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Jean-Laurent Casanova

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Nathalie Schmitt; Mau V Tran; Jacques Banchereau; Salah Eddine Bentebibel; Derek Blankenship; Stephanie Boisson-Dupuis; Laure Bourdery; Jacinta Bustamante; Jean-Laurent Casanova; Fran Hamlin; Virginia Pascual; Daniel A Savino; Hideki Ueno
IL-12 receptor β1 deficiency alters in vivo T follicular helper cell response in humans.
Yuval Itan; Patrick Nitschke; Lluis Quintana-Murci; Guillaume Vogt; Shen-Ying Zhang; Laurent Abel; Avinash Abhyankar; Dror Fried; Melina Herman; Jean-Laurent Casanova
The human gene connectome as a map of short cuts for morbid allele discovery.
Rebeca Pérez de Diego; Vanessa Sancho-Shimizu; Matthew W B Trotter; Shen-Ying Zhang; Laurent Abel; Jean-Laurent Casanova; Mark Crawford; Lazaro LORENZO; Claire Mulvey; Jasminka Godovac-Zimmermann
The proteome of Toll-like receptor 3-stimulated human immortalized fibroblasts: implications for susceptibility to herpes simplex virus encephalitis.

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2013: Nathalie Schmitt; Mau V Tran; Jacques Banchereau; Salah Eddine Bentebibel; Derek Blankenship; Stephanie Boisson-Dupuis; Laure Bourdery; Jacinta Bustamante; Jean-Laurent Casanova; Fran Hamlin; Virginia Pascual; Daniel A Savino; Hideki Ueno
IL-12 receptor β1 deficiency alters in vivo T follicular helper cell response in humans.
Blood 2013;121(17):3375-85.
2013: Yuval Itan; Patrick Nitschke; Lluis Quintana-Murci; Guillaume Vogt; Shen-Ying Zhang; Laurent Abel; Avinash Abhyankar; Dror Fried; Melina Herman; Jean-Laurent Casanova
The human gene connectome as a map of short cuts for morbid allele discovery.
Proceedings of the National Academy of Sciences of the United States of America 2013;110(14):5558-63.
2013: Rebeca Pérez de Diego; Vanessa Sancho-Shimizu; Matthew W B Trotter; Shen-Ying Zhang; Laurent Abel; Jean-Laurent Casanova; Mark Crawford; Lazaro LORENZO; Claire Mulvey; Jasminka Godovac-Zimmermann
The proteome of Toll-like receptor 3-stimulated human immortalized fibroblasts: implications for susceptibility to herpes simplex virus encephalitis.
The Journal of allergy and clinical immunology 2013;131(4):1157-66.
2013: Audrey V Grant; Mélanie Migaud; Daniel K Nolan; Satoshi Okada; Marianna Orlova; Vaomalala Raharimanga; V Rasolofo; Vincent Richard; Ayoub Sabri; Erwin Schurr; Ahmed Abid; K Alaoui-Tahiri; Luis B Barreiro; Majid Benkirane; Stéphanie Boisson-Dupuis; Anne Boland; Jacinta Bustamante; Jean-Laurent Casanova; Safa El Azbaoui; Jamila El Baghdadi; Y Gharbaoui; Ismail Abderrahmani Rhorfi; Laurent Abel
Age-dependent association between pulmonary tuberculosis and common TOX variants in the 8q12-13 linkage region.
American journal of human genetics 2013;92(3):407-14.
2013: Anne Puel; Jean-Laurent Casanova
Autoantibodies against cytokines: back to human genetics.
Blood 2013;121(8):1246-7.
2013: Xiao-Fei Kong; Danuta Kowalczyk; Alexandra Kreins; Anna Macura-Biegun; Mélanie Migaud; Marcela Moncada-Vélez; Satoshi Okada; Capucine Picard; Anna Szaflarska; Guillaume Vogt; Vanessa L Bryant; Jacinta Bustamante; Jean-Laurent Casanova; Ariane Chapgier; Damien Chaussabel; Claudia Djambas Khayat; Dieter Furthner; Steven M Holland; Yuval Itan; Laurent Abel; Avinash Abhyankar; Sulaiman Al-Ajaji; Saleh Al-Muhsen; Dusan Bogunovic; Stéphanie Boisson-Dupuis
Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease.
Human molecular genetics 2013;22(4):769-81.
2013: Seyed Alireza Mahdaviani; Seyed-Davood Mansouri; Seyed Amir Mohajerani; Nima Rezaei; Jean-Laurent Casanova; Ali Akbar Velayati
Pulmonary manifestations of chronic granulomatous disease.
Expert review of clinical immunology 2013;9(2):153-60.
2013: Nima Parvaneh; Luigi Daniele Notarangelo; Jean-Laurent Casanova; Mary Ellen Conley
Primary immunodeficiencies: a rapidly evolving story.
The Journal of allergy and clinical immunology 2013;131(2):314-23.
2013: Shen-Ying Zhang; Laurent Abel; Michael J Ciancanelli; Melina Herman; Rebeca Pérez de Diego; Vanessa Sancho-Shimizu; Jean-Laurent Casanova
TLR3 immunity to infection in mice and humans.
Current opinion in immunology 2013;25(1):19-33.
2013: Florent Toscano; Béatrice Vanbervliet; François Virard; Shen-Ying Zhang; Marc Bonnin; Jean-Laurent Casanova; Michael J Ciancanelli; Yann Estornes; Kenji Funami; Alejandra Garcia-Cattaneo; Misako Matsumoto; Audrey Pierrot; Jean-Jacques Pin; Toufic Renno; Tsukasa Seya; Serge Lebecque
Cleaved/associated TLR3 represents the primary form of the signaling receptor.
Journal of immunology (Baltimore, Md. : 1950) 2013;190(2):764-73.
2013: Shen-Ying Zhang; Laurent Abel; Jean-Laurent Casanova
Mendelian predisposition to herpes simplex encephalitis.
Handbook of clinical neurology 2013;112():1091-7.
2013: Dusan Bogunovic; Stéphanie Boisson-Dupuis; Jean-Laurent Casanova
ISG15: leading a double life as a secreted molecule.
Experimental & molecular medicine 2013;45():e18.
2013: Xiao-Fei Kong; Satoshi Okada; Abdelfettah Rouissi; Avinash Abhyankar; F Ailal; Aziz Bousfiha; Vanessa Bryant; Jacinta Bustamante; Jean-Laurent Casanova; Jennifer Hirst; Yuval Itan; Stéphanie Boisson-Dupuis
A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease.
PloS one 2013;8(3):e58286.
2013: Amandine Crequer; Stefania Jablonska; Laurent Abel; Jean-Laurent Casanova; Annick Lim; Slawomir Majewski; Gerard Orth; Vincent Pedergnana; Capucine Picard; Shen-Ying Zhang; Emmanuelle Jouanguy
EVER2 deficiency is associated with mild T-cell abnormalities.
Journal of clinical immunology 2013;33(1):14-21.
2013: Ahmed Aziz Bousfiha; Jean-Laurent Casanova; Leïla Jeddane; Nizar Mahlaoui; F Ailal; Ibtihal Benhsaien; Laurent Abel
Primary immunodeficiency diseases worldwide: more common than generally thought.
Journal of clinical immunology 2013;33(1):1-7.
2012: Sandra Weller; Shen-Ying Zhang; Simona Eva Zitnik; Carlos Rodrigo; Carlos Rodriguez-Gallego; Chaim M Roifman; Júlia Vasconcelos; Jean-Claude Weill; Alexandre Alcais; Peter Arkwright; Mélanie Bonnet; Yildiz Camcioglu; Jean-Laurent Casanova; Andrea Cerutti; Maya Chrabieh; Héloïse Delagreverie; Ben-Zion Garty; Cyrille Hoarau; Laura Israel; Andrew C Issekutz; László Maródi; Eric Meffre; Capucine Picard; Anne Puel; Claude-Agnès Reynaud
IgM+IgD+CD27+ B cells are markedly reduced in IRAK-4-, MyD88-, and TIRAP- but not UNC-93B-deficient patients.
Blood 2012;120(25):4992-5001.
2012: Horst von Bernuth; Capucine Picard; Anne Puel; Jean-Laurent Casanova
Experimental and natural infections in MyD88- and IRAK-4-deficient mice and humans.
European journal of immunology 2012;42(12):3126-35.
2012: Anne Puel; Laurent Abel; Sophie Cypowyj; László Maródi; Capucine Picard; Jean-Laurent Casanova
Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis.
Current opinion in allergy and clinical immunology 2012;12(6):616-22.
2012: Fabien G Lafaille; Gustavo Mostoslavsky; Laurent Abel; Avinash Abhyankar; Saleh Al-Muhsen; Jean-Laurent Casanova; Michael J Ciancanelli; George Q Daley; Yechiel Elkabetz; Peter A Goldstein; Melina Herman; Emmanuelle Jouanguy; Sotirios Keros; Jose Ordovas-Montanes; Itai Pessach; Sabine Plancoulaine; Thorsten M Schlaeger; Studer Lorenz; Marc Tardieu; Edmund Tu; Shui-Wang Ying; Shen-Ying Zhang; Luigi D Notarangelo
Impaired intrinsic immunity to HSV-1 in human iPSC-derived TLR3-deficient CNS cells.
Nature 2012;491(7426):769-73.
2012: Neslihan Edeer Karaca; Mine Hekimgil; Gulsen Kandiloglu; Güzide Aksu; Stéphanie Boisson-Dupuis; Jacinta Bustamante; Jean-Laurent Casanova; Nazan Ozsan; Necil Kutukculer
Granulomatous skin lesions, severe scrotal and lower limb edema due to mycobacterial infections in a child with complete IFN-γ receptor-1 deficiency.
Immunotherapy 2012;4(11):1121-7.
2012: Giulia Barcia; Nathalie Boddaert; Maile R Brown; Jean-Laurent Casanova; Haijun Chen; Roberta Cilio; Laurence Colleaux; Aline Deligniere; Isabelle Desguerre; Olivier Dulac; Matthew R Fleming; Valeswara-Rao Gazula; Leonard K Kaczmarek; Anna Kaminska; Jack Kronengold; Maeva Langouet; Arnold Munnich; Avinash Abhyankar; Patrick Nitschke; Rima Nabbout
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.
Nature genetics 2012;44(11):1255-9.
2012: László Maródi; Anne Puel; Beáta Tóth; Liudmyla Chernyshova; Sophie Cypowyj; Jean-Laurent Casanova
Molecular mechanisms of mucocutaneous immunity against Candida and Staphylococcus species.
The Journal of allergy and clinical immunology 2012;130(5):1019-27.
2012: Wei Xu; Robert Balderas; Derek Blankenship; Jean-Laurent Casanova; Sandra Clayton; Maria Teresa De La Morena; Melissa Dullaers; Marie-Cecile Herve; HyeMee Joo; SangKon Oh; Virginia Pascual; Capucine Picard; Jacques Banchereau
Macrophages induce differentiation of plasma cells through CXCL10/IP-10.
The Journal of experimental medicine 2012;209(10):1813-23, S1-2.
2012: Amandine Crequer; Claire Fieschi; Laure Gineau; Laurent Abel; Avinash Abhyankar; Jean-Laurent Casanova; James Krueger; Annick Lim; Cindy S Ma; Ingrid Mueller-Fleckenstein; Gérard Orth; Etienne Patin; Vincent Pedergnana; Capucine Picard; Monika Schmidt; Alain Taieb; Stuart G Tangye; Anja Troeger; David A Williams; Emmanuelle Jouanguy
Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections.
The Journal of clinical investigation 2012;122(9):3239-47.
2012: Sophie Cypowyj; László Maródi; Capucine Picard; Jean-Laurent Casanova; Anne Puel
Immunity to infection in IL-17-deficient mice and humans.
European journal of immunology 2012;42(9):2246-54.
2012: Miyuki Tsumura; Takahiro Yasumi; Shin'ichiro Yasunaga; Avinash Abhyankar; Saleh Al-Muhsen; Mofareh Alzahrani; Stéphanie Boisson-Dupuis; Jean-Laurent Casanova; Geyhad Elghazali; Toshio Heike; Xiao-Fei Kong; Takuji Murata; Tatsutoshi Nakahata; Ryuta Nishikomori; Hideto Obata; Motoaki Ohtsubo; Satoshi Okada; Hidemasa Sakai; Mohammed Al Shehri; Yoshihiro Takihara; Masao Kobayashi
Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease.
Human mutation 2012;33(9):1377-87.
2012: Melina Herman; Edyta Heropolitanska-Pliszka; Elisabeth Israelsson; Maja Klaudel-Dreszler; Pierre Lebon; Lazaro LORENZO; Yi-Hung Ou; Elodie Pauwels; Rebeca Pérez de Diego; Flore Rozenberg; Vanessa Sancho-Shimizu; Marc Tardieu; Michael A White; Shen-Ying Zhang; Laurent Abel; Avinash Abhyankar; Annabelle Cardon; Damien Chaussabel; Michael Ciancanelli; Yiqi Guo; Jean-Laurent Casanova
Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood.
The Journal of experimental medicine 2012;209(9):1567-82.
2012: Stéphanie Boisson-Dupuis; Laurent Abel; Sophie Cypowyj; Xiao-Fei Kong; Satoshi Okada; Anne Puel; Jean-Laurent Casanova
Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes.
Current opinion in immunology 2012;24(4):364-78.
2012: Beáta Tóth; Zsolt Tulassay; Jean-Laurent Casanova; Sophie Cypowyj; Leonóra Méhes; Anne Puel; Zsuzsanna Szalai; Szilvia Taskó; László Maródi
Herpes in STAT1 gain-of-function mutation [corrected].
Lancet 2012;379(9835):2500.
2012: Sara S Kilic; Alexandra Y Kreins; Laurent Abel; Stéphanie Boisson-Dupuis; Audrey V Grant; Mustafa Hacimustafaoglu; Jean-Laurent Casanova
A patient with tyrosine kinase 2 deficiency without hyper-IgE syndrome.
The Journal of pediatrics 2012;160(6):1055-7.
2012: Vincent Pedergnana; Patricia Tortevoye; Laurent Abel; Delphine Bacq-Daian; Anne Boland; Minji Byun; Jean-Laurent Casanova; Antoine Gessain; Sabine Plancoulaine
A major locus on chromosome 3p22 conferring predisposition to human herpesvirus 8 infection.
European journal of human genetics : EJHG 2012;20(6):690-5.
2012: Matthew Koss; Elisa Lenti; Nizar Mahlaoui; Owen W J Prall; Matilde Saggese; Mark Solloway; Bertrand Boisson; Ekaterina Bojilova; Alexandre Bolze; Andrea Brendolan; Terence D Capellini; Jean-Laurent Casanova; Ching-Pin Chang; David A Elliott; Richard P Harvey; Chisa Hidaka; Licia Selleri
Congenital asplenia in mice and humans with mutations in a Pbx/Nkx2-5/p15 module.
Developmental cell 2012;22(5):913-26.
2012: Cindy S Ma; Klaus Magdorf; Yoshiyuki Minegishi; Shigeaki Nonoyama; Jane Peake; Joanne M Smart; Melanie Wong; Peter Arkwright; Diana Averbuch; Danielle T Avery; Marcel Batten; Stéphanie Boisson-Dupuis; Jacinta Bustamante; Jean-Laurent Casanova; Anna Chan; Sharon Choo; Matthew C Cook; Elissa K Deenick; Dan Engelhard; Martyn A French; David A Fulcher; Paul Gray; Sara S Kilic; Alexandra Y Kreins; Stuart G Tangye
Functional STAT3 deficiency compromises the generation of human T follicular helper cells.
Blood 2012;119(17):3997-4008.
2012: Jean-Laurent Casanova; Steven M Holland; Luigi D Notarangelo
Inborn errors of human JAKs and STATs.
Immunity 2012;36(4):515-28.
2012: Caroline Michot; Arnold Munnich; Patrick Nitschke; Caroline Thalassinos; Avinash Abhyankar; Genevieve Baujat; Jean-Laurent Casanova; Alice Duncombe; Philippe Flahaut; Alice Goldenberg; Anne-Marie Guerrot; Esther Kinning; Céline Klein; Carine Le Goff; Martine Le Merrer; Stanislas Lyonnet; Valérie Cormier-Daire
Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis.
American journal of human genetics 2012;90(4):740-5.
2012: Laure Gineau; Laurent Abel; Alexandre Alcaïs; Said Aoufouchi; Jean-Laurent Casanova; Céline Cognet; Jean Dunne; Céline Eidenschenk; Conleth Feighery; Frédéric Geissmann; Nihan Kara; Francis Peter Lach; Capucine Picard; Owen Smith; Agata Smogorzewska; Bruce Stillman; Céline Trouillet; Uma Veturi; Eric Vivier; Emmanuelle Jouanguy
Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency.
The Journal of clinical investigation 2012;122(3):821-32.
2012: Amandine Crequer; Aurelia D'Amico; Geneviève de Saint Basile; Marianne Debré; Alain Fischer; Martine Munzer; Gérard Orth; Etienne Patin; Capucine Picard; Shen-Ying Zhang; Laurent Abel; Avinash Abhyankar; Jean-Laurent Casanova; Emmanuelle Jouanguy
Inherited MST1 deficiency underlies susceptibility to EV-HPV infections.
PloS one 2012;7(8):e44010.
2012: Nermeen Galal; Xiao-Fei Kong; Aisha Marsafy; Stéphanie Boisson-Dupuis; Jeannette Boutros; Jean-Laurent Casanova; Jacqueline Feinberg; Jacinta Bustamante
Mendelian susceptibility to mycobacterial disease in egyptian children.
Mediterranean journal of hematology and infectious diseases 2012;4(1):e2012033.
2011: Vanessa Sancho-Shimizu; Shen-Ying Zhang; Emmanuelle Jouanguy; Rebeca Perez de Diego; Jean-Laurent Casanova
Inborn errors of anti-viral interferon immunity in humans.
Current opinion in virology 2011;1(6):487-96.
2011: Monia Ouederni; Sami Scerra; Fabien Touzot; Quentin B Vincent; Laurent Abel; Mohamed Bejaoui; Stéphane Blanche; Aziz Bousfiha; Julie Bruneau; Danielle Canioni; Jean-Laurent Casanova; Marianne Debré; Alain Fischer; Pierre Frange; Yves Levy; Barbara Lisowska-Grospierre; Capucine Picard
Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients.
Blood 2011;118(19):5108-18.
2011: Katrina L Randall; Sarah Russell; Joanne M Smart; Andy Tan; Stuart G Tangye; Mehmet Yabas; Marco A Yamazaki-Nakashimada; Maria de la Luz Garcia-Cruz; Wafaa Al Suwairi; Peter D Arkwright; Edward M Bertram; Jean-Laurent Casanova; Stephanie S-Y Chan; Richard J Cornall; Ivan Fung; Emmanuelle Jouanguy; Teresa Lambe; Saul Oswaldo Lugo Reyes; Cindy S Ma; Yan Mei; Satoshi Okada; Jane Oliaro; Capucine Picard; Christopher C Goodnow
DOCK8 deficiency impairs CD8 T cell survival and function in humans and mice.
The Journal of experimental medicine 2011;208(11):2305-20.
2011: Yiqi Guo; Melina Herman; Emmanuelle Jouanguy; Pierre Lebon; Lazaro LORENZO; Elodie Pauwels; Rebeca Pérez de Diego; Paul Bastard Philippe; Capucine Picard; Sabine Plancoulaine; Flore Rozenberg; Vanessa Sancho-Shimizu; Marc Tardieu; Guillaume Vogt; Laurent Abel; Laia Alsina; Zafitsara Zo Andrianirina; Esperanza Anguiano; Magali Audry; Joana Azevedo; Annabelle Cardon; Jean-Laurent Casanova; Damien Chaussabel; Michael Ciancanelli; Frederic Geissmann; Shen-Ying Zhang
Herpes simplex virus encephalitis in a patient with complete TLR3 deficiency: TLR3 is otherwise redundant in protective immunity.
The Journal of experimental medicine 2011;208(10):2083-98.
2011: Magali Audry; Jean-Laurent Casanova; Huey-Hsuan Chang; Michael Ciancanelli; Aurelie Cobat; Alain Israel; Emmanuelle Jouanguy; Xiao-Xia Li; Lazaro LORENZO; Tim Niehues; Janine Reichenbach; Vanessa Sancho-Shimizu; Kun Yang; Shen-Ying Zhang; Laurent Abel; Anne Puel
NEMO is a key component of NF-κB- and IRF-3-dependent TLR3-mediated immunity to herpes simplex virus.
The Journal of allergy and clinical immunology 2011;128(3):610-7.e1-4.
2011: Slaheddine Marrakchi; Arnold Munnich; Xue-Yuan Pei; Christian Pons; Anne Puel; Blair R Renshaw; Mourad Sahbatou; Valérie Serre; John E Sims; Jennifer E Towne; Hamida Turki; Jihen Zribi; Hervé Bachelez; Elodie Bal; Christine Bodemer; Jean-Laurent Casanova; Maya Chrabieh; Céline Cluzeau; Jason Douangpanya; Faiza Fakhfakh; Michel Favre; Josué Feingold; Sylvie Fraitag; Emmanuelle Genin; Philippe Guigue; Smail Hadj-Rabia; Nadia Mahfoudh; Hafedh Makni; Sourour Mansour; Asma Smahi
Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis.
The New England journal of medicine 2011;365(7):620-8.
2011: Audrey V Grant; Eléonore Herquelot; Sara Sebnem Kilic; Daniel K Nolan; Ayse Palanduz; Ozden Sanal; Saleh Al-Muhsen; Stéphanie Boisson-Dupuis; Anne Boland; Jacinta Bustamante; Yildiz Camcioglu; Jean-Laurent Casanova; Ludovic de Beaucoudrey; Jacqueline Feinberg; Orchidée Filipe-Santos; Laurent Abel
Accounting for genetic heterogeneity in homozygosity mapping: application to Mendelian susceptibility to mycobacterial disease.
Journal of medical genetics 2011;48(8):567-71.
2011: Payam Tabarsi; Nahal Mansouri; Majid Marjani; Laurent Abel; Parisa Adimi; Stéphanie Boisson-Dupuis; Jacinta Bustamante; Jean-Laurent Casanova; Parissa Farnia; davood mansouri
Lethal tuberculosis in a previously healthy adult with IL-12 receptor deficiency.
Journal of clinical immunology 2011;31(4):537-9.
2011: Marjorie Hubeau; Alain Israel; Laura Israel; Flora Ngadjeua; Capucine Picard; Alessandro Plebani; Anne Puel; Michel Veron; Laurent Abel; Fabrice Agou; Kiran Belani; Christine Bodemer; Stéphanie Boisson-Dupuis; Jean-Laurent Casanova; Maya Chrabieh; Isabelle Fabre; Jacqueline Feinberg; Alain Fischer; Jacinta Bustamante
New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein.
Blood 2011;118(4):926-35.
2011: Capucine Picard; Jean-Laurent Casanova; Anne Puel
Infectious diseases in patients with IRAK-4, MyD88, NEMO, or IκBα deficiency.
Clinical microbiology reviews 2011;24(3):490-7.
2011: Kalle V Kisand; Desa Lilic; Jean-Laurent Casanova; Pärt Peterson; Anthony Meager; Nick Willcox
Mucocutaneous candidiasis and autoimmunity against cytokines in APECED and thymoma patients: clinical and pathogenetic implications.
European journal of immunology 2011;41(6):1517-27.
2011: Itai Pessach; Jose Ordovas-Montanes; Shen-Ying Zhang; Jean-Laurent Casanova; Silvia Giliani; Andrew R Gennery; Waleed Al-Herz; Philip D Manos; Thorsten M Schlaeger; In-Hyun Park; Francesca Rucci; Suneet Agarwal; Gustavo Mostoslavsky; George Q Daley; Luigi D Notarangelo
Induced pluripotent stem cells: a novel frontier in the study of human primary immunodeficiencies.
The Journal of allergy and clinical immunology 2011;127(6):1400-7.e4.
2011: Jacinta Bustamante; N Mahlaoui; Jean-Laurent Casanova; Stéphane Blanche
[Fungal infections and congenital immune deficiencies].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2011;18 Suppl 1():S8-14.
2011: Anne Puel; Sophie Cypowyj; Jacinta Bustamante; Jill F Wright; Luyan Liu; Hye Kyung Lim; Mélanie Migaud; Laura Israel; Maya Chrabieh; Magali Audry; Matthew Gumbleton; Antoine Toulon; Christine Bodemer; Jamila El Baghdadi; Matthew Whitters; Theresa Paradis; Jonathan Brooks; Mary Collins; Neil M Wolfman; Saleh Al-Muhsen; Miguel Galicchio; Laurent Abel; Capucine Picard; Jean-Laurent Casanova
Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity.
Science (New York, N.Y.) 2011;332(6025):65-8.
2011: Diana Averbuch; Ariane Chapgier; Stéphanie Boisson-Dupuis; Jean-Laurent Casanova; Dan Engelhard
The clinical spectrum of patients with deficiency of Signal Transducer and Activator of Transcription-1.
The Pediatric infectious disease journal 2011;30(4):352-5.
2011: Nima Rezaei; Asghar Aghamohammadi; Davood Mansouri; Nima Parvaneh; Jean-Laurent Casanova
Tuberculosis: a new look at an old disease.
Expert review of clinical immunology 2011;7(2):129-31.
2011: Jacinta Bustamante; Andres A Arias; Guillaume Vogt; Capucine Picard; Lizbeth Blancas Galicia; Carolina Prando; Audrey V Grant; Christophe C Marchal; Marjorie Hubeau; Ariane Chapgier; Ludovic de Beaucoudrey; Anne Puel; Jacqueline Feinberg; Ethan Valinetz; Lucile Jannière; Céline Besse; Anne Boland; Jean-Marie Brisseau; Stéphane Blanche; Olivier Lortholary; Claire Fieschi; Jean-François Emile; Stéphanie Boisson-Dupuis; Saleh Al-Muhsen; Bruce Woda; Peter E Newburger; Antonio Condino-Neto; Mary C Dinauer; Laurent Abel; Jean-Laurent Casanova
Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease.
Nature immunology 2011;12(3):213-21.
2011: Raquel Maia; Catarina Gouveia; Ana Moreira; Jean-Laurent Casanova; Vanessa Sancho-Shimizu; Maria João Brito
Early ''relapse'' after herpetic encephalitis: extensive white matter lesions in an infant with interferon production deficit.
Journal of child neurology 2011;26(3):369-72.
2011: Isabelle Pellier; D Loisel; Samir Benabidallah; Alexis Proust; Nizar Malhlaoui; Capucine Picard; Fatiha Najioullah; Geneviève de Saint Basile; Stephane Blanche; Xavier Rialland; Jean-Laurent Casanova; Sophie Dupuis Girod; Alain Fischer
Occurrence of aortic aneurysms in 5 cases of Wiskott-Aldrich syndrome.
Pediatrics 2011;127(2):e498-504.
2011: Saul Oswaldo Lugo Reyes; Felipe Suarez; Rose-Marie Herbigneaux; Hélène Pacquement; Yves Réguerre; Jean-Pierre Rivière; Maylis de Suremain; Yoann Rose; Jacqueline Feinberg; Nizar Malahoui; Alain Fischer; Stéphane Blanche; Jean-Laurent Casanova; Capucine Picard; Jacinta Bustamante
Hodgkin lymphoma in 2 children with chronic granulomatous disease.
The Journal of allergy and clinical immunology 2011;127(2):543-544.e1-3.
2011: Nicolas Vince; David Boutboul; Gaël Mouillot; Nicolas Just; Maria Peralta; Jean-Laurent Casanova; Mary Ellen Conley; Jean-Christophe Bories; Eric Oksenhendler; Marion Malphettes; Claire Fieschi
Defects in the CD19 complex predispose to glomerulonephritis, as well as IgG1 subclass deficiency.
The Journal of allergy and clinical immunology 2011;127(2):538-541.e1-5.
2011: Waleed Al-Herz; Aziz Bousfiha; Jean-Laurent Casanova; Helen Chapel; Mary Ellen Conley; Charlotte Cunningham-Rundles; Amos Etzioni; Alain Fischer; Jose Luis Franco; Raif S Geha; Lennart Hammarström; Shigeaki Nonoyama; Luigi Daniele Notarangelo; Hans Dieter Ochs; Jennifer M Puck; Chaim M Roifman; Reinhard Seger; Mimi L K Tang
Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency.
Frontiers in immunology 2011;2():54.
2011: Caner Aytekin; Stéphanie Boisson-Dupuis; J Bustamante; Jean-Laurent Casanova; Figen Dogu; Jacqueline Feinberg; D Guloglu; Gönül Tanir; Nilden Tuygun; Aydan Ikinciogullari
Bacille Calmette-Guérin lymphadenitis and recurrent oral candidiasis in an infant with a new mutation leading to interleukin-12 receptor beta-1 deficiency.
Journal of investigational allergology & clinical immunology : official organ of the International Association of Asthmology (INTERASMA) and Sociedad Latinoamericana de Alergia e Inmunología 2011;21(5):401-4.
2011: Stéphanie Boisson-Dupuis; Jamila El Baghdadi; Nima Parvaneh; Aziz Bousfiha; Jacinta Bustamante; Jacqueline Feinberg; Arina Samarina; Audrey V Grant; Lucile Janniere; Naima El Hafidi; Amal Hassani; Daniel Nolan; Jilali Najib; Yildiz Camcioglu; Nevin Hatipoglu; Cigdem Aydogmus; Gonul Tanir; Caner Aytekin; Melike Keser; Ayper Somer; Guside Aksu; Necil Kutukculer; Davood Mansouri; Alireza Mahdaviani; Setareh Mamishi; Alexandre Alcais; Laurent Abel; Jean-Laurent Casanova
IL-12Rβ1 deficiency in two of fifty children with severe tuberculosis from Iran, Morocco, and Turkey.
PloS one 2011;6(4):e18524.
2011: Abdullah A Alangari; Fahad Al Zamil; Abdulrahman M Al-Mazrou; Saleh Al-Muhsen; Stéphanie Boisson-Dupuis; Sitalbanat Awadallah; Abdelmageed Kambal; Jean-Laurent Casanova
Treatment of disseminated mycobacterial infection with high-dose IFN-γ in a patient with IL-12Rβ1 deficiency.
Clinical & developmental immunology 2011;2011():691956.
2011: Jean-Laurent Casanova; Laurent Abel; Lluis Quintana-Murci
Human TLRs and IL-1Rs in host defense: natural insights from evolutionary, epidemiological, and clinical genetics.
Annual review of immunology 2011;29():447-91.
2011: Nizar Mahlaoui; Veronique Minard-Colin; Capucine Picard; Alexandre Bolze; Cheng-Lung KU; Olivier Tournilhac; Brigitte Gilbert-Dussardier; Brigitte Pautard; Philippe Durand; Denis Devictor; Eric Lachassinne; Bernard Guillois; Michel Morin; François Gouraud; Françoise Valensi; Alain Fischer; Anne Puel; Laurent Abel; Damien Bonnet; Jean-Laurent Casanova
Isolated congenital asplenia: a French nationwide retrospective survey of 20 cases.
The Journal of pediatrics 2011;158(1):142-8, 148.e1.
2010: Xiao-Fei Kong; Michael Ciancanelli; Sami Al-Hajjar; Laia Alsina; Timothy Zumwalt; Jacinta Bustamante; Jacqueline Feinberg; Magali Audry; Carolina Prando; Vanessa Bryant; Alexandra Kreins; Dusan Bogunovic; Rabih Halwani; Xin-Xin Zhang; Laurent Abel; Damien Chaussabel; Saleh Al-Muhsen; Jean-Laurent Casanova; Stéphanie Boisson-Dupuis
A novel form of human STAT1 deficiency impairing early but not late responses to interferons.
Blood 2010;116(26):5895-906.
2010: Alexandre Bolze; Minji Byun; David McDonald; Neil V Morgan; Avinash Abhyankar; Lakshmanane Premkumar; Anne Puel; Chris M Bacon; Frédéric Rieux-Laucat; Ki Pang; Alison Britland; Laurent Abel; Andrew Cant; Eamonn R Maher; Stefan J Riedl; Sophie Hambleton; Jean-Laurent Casanova
Whole-exome-sequencing-based discovery of human FADD deficiency.
American journal of human genetics 2010;87(6):873-81.
2010: Alexandre Alcaïs; Lluis Quintana-Murci; David S Thaler; Erwin Schurr; Laurent Abel; Jean-Laurent Casanova
Life-threatening infectious diseases of childhood: single-gene inborn errors of immunity?
Annals of the New York Academy of Sciences 2010;1214():18-33.
2010: László Maródi; Jean-Laurent Casanova
Primary immunodeficiencies may reveal potential infectious diseases associated with immune-targeting mAb treatments.
The Journal of allergy and clinical immunology 2010;126(5):910-7.
2010: Minji Byun; Avinash Abhyankar; Virginie Lelarge; Sabine Plancoulaine; Ayse Palanduz; Leyla Telhan; Bertrand Boisson; Capucine Picard; Scott Dewell; Connie Zhao; Emmanuelle Jouanguy; Stefan Feske; Laurent Abel; Jean-Laurent Casanova
Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma.
The Journal of experimental medicine 2010;207(11):2307-12.
2010: Sigifredo Pedraza; Jose Luis Lezana; Arina Samarina; Ruth Aldana; Maria Teresa Herrera; Stéphanie Boisson-Dupuis; Jacinta Bustamante; Perle Pages; Jean-Laurent Casanova; Capucine Picard
Clinical disease caused by Klebsiella in 2 unrelated patients with interleukin 12 receptor beta1 deficiency.
Pediatrics 2010;126(4):e971-6.
2010: Rebeca Pérez de Diego; Vanessa Sancho-Shimizu; Lazaro Lorenzo; Anne Puel; Sabine Plancoulaine; Capucine Picard; Melina Herman; Annabelle Cardon; Anne Durandy; Jacinta Bustamante; Sivakumar Vallabhapurapu; Jerónimo Bravo; Klaus Warnatz; Yves Chaix; Françoise Cascarrigny; Pierre Lebon; Flore Rozenberg; Michael Karin; Marc Tardieu; Saleh Al-Muhsen; Emmanuelle Jouanguy; Shen-Ying Zhang; Laurent Abel; Jean-Laurent Casanova
Human TRAF3 adaptor molecule deficiency leads to impaired Toll-like receptor 3 response and susceptibility to herpes simplex encephalitis.
Immunity 2010;33(3):400-11.
2010: Jérôme Cros; Nicolas Cagnard; kevin woollard; Natacha Patey; Shen-Ying Zhang; Brigitte Senechal; Anne Puel; Subhra K Biswas; Despina Moshous; Capucine Picard; Jean-Philippe jais; David D'Cruz; Jean-Laurent Casanova; Céline Trouillet; Frederic Geissmann
Human CD14dim monocytes patrol and sense nucleic acids and viruses via TLR7 and TLR8 receptors.
Immunity 2010;33(3):375-86.
2010: María Cárdenes; Alfonso Angel-Moreno; Claire Fieschi; Ithaisa Sologuren; Elena Colino; Antonio Molinés; M Isabel García-Laorden; M Isolina Campos-Herrero; Miguel Andújar-Sánchez; Jean-Laurent Casanova; Carlos Rodríguez-Gallego
Oesophageal squamous cell carcinoma in a young adult with IL-12R beta 1 deficiency.
Journal of medical genetics 2010;47(9):635-7.
2010: Bing He; Raul Santamaria; Weifeng Xu; Montserrat Cols; Kang Chen; Irene Puga; Meimei Shan; Huabao Xiong; James B Bussel; April Chiu; Anne Puel; Jeanine Reichenbach; László Marodi; Rainer Döffinger; Julia Vasconcelos; Andrew Issekutz; Jens Krause; Graham Davies; Xiaoxia Li; Bodo Grimbacher; Alessandro Plebani; Eric Meffre; Capucine Picard; Charlotte Cunningham-Rundles; Jean-Laurent Casanova; Andrea Cerutti
The transmembrane activator TACI triggers immunoglobulin class switching by activating B cells through the adaptor MyD88.
Nature immunology 2010;11(9):836-45.
2010: Hidemi Toyoda; Masaru Ido; Kyoichi Nakanishi; Takashi Nakano; Hitoshi Kamiya; Akihiko Matsumine; Atsumasa Uchida; Hitoshi Mizutani; Ludovic de Beaucoudrey; Guillaume Vogt; Stéphanie Boisson-Dupuis; Jacinta Bustamante; Jean-Laurent Casanova; Yoshihiro Komada
Multiple cutaneous squamous cell carcinomas in a patient with interferon gamma receptor 2 (IFN gamma R2) deficiency.
Journal of medical genetics 2010;47(9):631-4.
2010: Nicolette Moes; Frédéric Rieux-Laucat; Bernadette Begue; Julien Verdier; Bénédicte Neven; Natacha Patey; Troy T Torgerson; Capucine Picard; Marie-Claude Stolzenberg; Corinne Ruemmele; Edmond Hhm Rings; Jean-Laurent Casanova; Hugues Piloquet; Armand Biver; Anne Breton; Hans D Ochs; Olivier Hermine; Alain Fischer; Olivier Goulet; Nadine Cerf-Bensussan; Frank M Ruemmele
Reduced expression of FOXP3 and regulatory T-cell function in severe forms of early-onset autoimmune enteropathy.
Gastroenterology 2010;139(3):770-8.
2010: Sigifredo Pedraza-Sánchez; Maria Teresa Herrera-Barrios; Ruth Aldana-Vergara; Milagros Neumann-Ordoñez; Yolanda González-Hernández; Eduardo Sada-Díaz; Ludovic de Beaucoudrey; Jean-Laurent Casanova; Martha Torres-Rojas
Bacille Calmette-Guérin infection and disease with fatal outcome associated with a point mutation in the interleukin-12/interleukin-23 receptor beta-1 chain in two Mexican families.
International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases 2010;14 Suppl 3():e256-60.
2010: Anne Puel; Capucine Picard; Sophie Cypowyj; Desa Lilic; Laurent Abel; Jean-Laurent Casanova
Inborn errors of mucocutaneous immunity to Candida albicans in humans: a role for IL-17 cytokines?
Current opinion in immunology 2010;22(4):467-74.
2010: Bertrand Nalpas; Roubila Lavialle-Meziani; Sabine Plancoulaine; Emmanuelle Jouanguy; Antoine Nalpas; Mona Munteanu; Frédéric Charlotte; Brigitte Ranque; Etienne Patin; Simon Heath; Hélène Fontaine; Anaïs Vallet-Pichard; Dominique Pontoire; Marc Bourlière; Jean-Laurent Casanova; Mark Lathrop; Christian Bréchot; Thierry Poynard; Fumihiko MATSUDA; Stanislas Pol; Laurent Abel
Interferon gamma receptor 2 gene variants are associated with liver fibrosis in patients with chronic hepatitis C infection.
Gut 2010;59(8):1120-6.
2010: Salima Hacein-Bey-Abina; Julia Hauer; Annick Lim; Capucine Picard; Gary P Wang; Charles C Berry; Chantal Martinache; Frédéric Rieux-Laucat; Sylvain Latour; Bernd H Belohradsky; Lily Leiva; Ricardo Sorensen; Marianne Debré; Jean-Laurent Casanova; Stéphane Blanche; Anne Durandy; Frederic D Bushman; Alain Fischer; Marina Cavazzana-Calvo
Efficacy of gene therapy for X-linked severe combined immunodeficiency.
The New England journal of medicine 2010;363(4):355-64.
2010: Laurent Abel; Jean-Laurent Casanova
[Human genetics of tuberculosis].
Bulletin de l'Académie nationale de médecine 2010;194(6):943-50; discussion 951-2.
2010: Jean-Laurent Casanova; Marc Tardieu; Laurent Abel
[Genetic predisposition to herpetic meningo-encephalitis in children].
Bulletin de l'Académie nationale de médecine 2010;194(6):915-22.
2010: László Maródi; Jean-Laurent Casanova
Can primary immunodeficiencies help to provide insights into infectious risks of therapeutic antibodies?
Nature reviews. Immunology 2010;10(5):299-300.
2010: Aziz Bousfiha; Capucine Picard; Stéphanie Boisson-Dupuis; Shen-Ying Zhang; Jacinta Bustamante; Anne Puel; Emmanuelle Jouanguy; Fatima Ailal; Jamila El Baghdadi; Laurent Abel; Jean-Laurent Casanova
Primary immunodeficiencies of protective immunity to primary infections.
Clinical immunology (Orlando, Fla.) 2010;135(2):204-9.
2010: Carolina Prando; Stéphanie Boisson-Dupuis; Audrey V Grant; Xiao-Fei Kong; Jacinta Bustamante; Jacqueline Feinberg; Ariane Chapgier; Yoann Rose; Lucile Jannière; Elena Rizzardi; Qiuping Zhang; Catherine M Shanahan; Louis Viollet; Stanislas LYONNET; Laurent Abel; Ezia Maria Ruga; Jean-Laurent Casanova
Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency.
American journal of medical genetics. Part A 2010;152A(3):622-9.
2010: Gürses Sahin; Ayse Palanduz; Gonul Aydogan; Olivier Cassar; A Ulya Ertem; Leyla Telhan; nur canpolat; Emmanuelle Jouanguy; Capucine Picard; Antoine Gessain; Laurent Abel; Jean-Laurent Casanova; Sabine Plancoulaine
Classic Kaposi sarcoma in 3 unrelated Turkish children born to consanguineous kindreds.
Pediatrics 2010;125(3):e704-8.
2010: Anne Puel; Rainer Döffinger; Angels Natividad; Maya Chrabieh; Gabriela Barcenas-Morales; Capucine Picard; Aurélie Cobat; Marie Ouachée-Chardin; Antoine Toulon; Jacinta Bustamante; Saleh Al-Muhsen; Mohammed Al-Owain; Peter Arkwright; Colm Costigan; Vivienne McConnell; Andrew J Cant; Mario Abinun; Michel Polak; Pierre-François Bougnères; Dinakantha S Kumararatne; László Marodi; Amit Nahum; Chaim Roifman; Stéphane Blanche; Alain Fischer; Christine Bodemer; Laurent Abel; Desa Lilic; Jean-Laurent Casanova
Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I.
The Journal of experimental medicine 2010;207(2):291-7.
2010: Marcus Gentsch; Aneta Kaczmarczyk; Karin van Leeuwen; Martin de Boer; Magdalena Kaus-Drobek; Marie-Claire Dagher; Petra Kaiser; Peter Arkwright; Manfred Gahr; Angela Rösen-Wolff; Matthias Bochtler; Elizabeth Secord; Pamela Britto-Williams; Gulam Mustafa Saifi; Anne Maddalena; Ghassan Dbaibo; Jacinta Bustamante; Jean-Laurent Casanova; Dirk Roos; Joachim Roesler
Alu-repeat-induced deletions within the NCF2 gene causing p67-phox-deficient chronic granulomatous disease (CGD).
Human mutation 2010;31(2):151-8.
2010: Heleen Borgers; Leen Moens; Capucine Picard; Axel Jeurissen; Marc Raes; Kate Sauer; Marijke Proesmans; Kris De Boeck; Jean-Laurent Casanova; Isabelle Meyts; Xavier Bossuyt
Laboratory diagnosis of specific antibody deficiency to pneumococcal capsular polysaccharide antigens by multiplexed bead assay.
Clinical immunology (Orlando, Fla.) 2010;134(2):198-205.
2010: Xiao-Fei Kong; Guillaume Vogt; Ariane Chapgier; Christophe Lamaze; Jacinta Bustamante; Carolina Prando; Anny Fortin; Anne Puel; Jacqueline Feinberg; Xin-Xin Zhang; Pauline Gonnord; Ulla M Pihkala-Saarinen; Mikko Arola; Petra Moilanen; Laurent Abel; Matti Korppi; Stéphanie Boisson-Dupuis; Jean-Laurent Casanova
A novel form of cell type-specific partial IFN-gammaR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon.
Human molecular genetics 2010;19(3):434-44.
2010: maria grazia marazzi; Ariane Chapgier; Anna-Carla Defilippi; Vito Pistoia; Sara Mangini; Cesarina Savioli; Anna Dell'Acqua; Jacqueline Feinberg; ENRICO TORTOLI; Jean-Laurent Casanova
Disseminated Mycobacterium scrofulaceum infection in a child with interferon-gamma receptor 1 deficiency.
International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases 2010;14(2):e167-70.
2010: Danielle T Avery; Elissa K Deenick; Cindy S Ma; Santi Suryani; Nicholas Simpson; Gary Y Chew; Tyani D Chan; Umamainthan Palendira; Jacinta Bustamante; Stéphanie Boisson-Dupuis; Sharon Choo; Karl E Bleasel; Jane Peake; Cecile King; Martyn A French; Dan Engelhard; Sami Al-Hajjar; Saleh Al-Muhsen; Klaus Magdorf; Joachim Roesler; Peter Arkwright; Pravin Hissaria; D Sean Riminton; Melanie Wong; Robert Brink; David A Fulcher; Jean-Laurent Casanova; Matthew C Cook; Stuart G Tangye
B cell-intrinsic signaling through IL-21 receptor and STAT3 is required for establishing long-lived antibody responses in humans.
The Journal of experimental medicine 2010;207(1):155-71.
2010: Mohammed Al-Owain; Namik Kaya; Hamad Al-Zaidan; Ibrahim Bin Hussain; Hadeel Al-Manea; Hindi Al-Hindi; Shelley Kennedy; M Anwar Iqbal; Hamad Al-Mojalli; Albandary Al-Bakheet; Anne Puel; Jean-Laurent Casanova; Saleh Al-Muhsen
Renal failure associated with APECED and terminal 4q deletion: evidence of autoimmune nephropathy.
Clinical & developmental immunology 2010;2010():586342.
2009: Luigi D Notarangelo; Alain Fischer; Raif S Geha; Jean-Laurent Casanova; Helen Chapel; Mary Ellen Conley; Charlotte Cunningham-Rundles; Amos Etzioni; Lennart Hammartröm; Shigeaki Nonoyama; Hans D Ochs; Jennifer Puck; Chaim Roifman; Reinhard Seger; Josiah Wedgwood
Primary immunodeficiencies: 2009 update.
The Journal of allergy and clinical immunology 2009;124(6):1161-78.
2009: L Maródi; Jean-Laurent Casanova
Novel primary immunodeficiencies relevant to internal medicine: novel phenotypes.
Journal of internal medicine 2009;266(6):502-6.
2009: Aurelie Cobat; Caroline J Gallant; Leah Simkin; Gillian F Black; Kim Stanley; Jane Hughes; Timothy Doherty; Willem A Hanekom; Brian Eley; Jean-Philippe Jaïs; Anne Boland-Auge; Paul van Helden; Jean-Laurent Casanova; Laurent Abel; Eileen G Hoal; Erwin Schurr; Alexandre Alcaïs
Two loci control tuberculin skin test reactivity in an area hyperendemic for tuberculosis.
The Journal of experimental medicine 2009;206(12):2583-91.
2009: Jens C Krause; Pegah Ghandil; Maya Chrabieh; Jean-Laurent Casanova; Capucine Picard; Anne Puel; C Buddy Creech
Very late-onset group B Streptococcus meningitis, sepsis, and systemic shigellosis due to interleukin-1 receptor-associated kinase-4 deficiency.
Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2009;49(9):1393-6.
2009: Luigi D Notarangelo; Jean-Laurent Casanova
Primary immunodeficiencies: increasing market share.
Current opinion in immunology 2009;21(5):461-5.
2009: Paolo Ruggero Errante; Carolina Prando; Jacinta Bustamante; Walmir Cutrin Aragão Filho; Paulo Vitor Soelio Pereira; Jussara Rehder; Jean-Laurent Casanova; Peter E Newburger; Antônio Condino Neto
Comment on "Impaired priming and activation of the neutrophil NADPH oxidase in patients with IRAK4 or NEMO deficiency".
Journal of immunology (Baltimore, Md. : 1950) 2009;183(6):3559.
2009: Alexandre Alcaïs; Laurent Abel; Jean-Laurent Casanova
Human genetics of infectious diseases: between proof of principle and paradigm.
The Journal of clinical investigation 2009;119(9):2506-14.
2009: Jean-Laurent Casanova; Laurent Abel
Revisiting Crohn's disease as a primary immunodeficiency of macrophages.
The Journal of experimental medicine 2009;206(9):1839-43.
2009: Luis B Barreiro; Meriem Ben-Ali; Hélène Quach; Guillaume Laval; Etienne Patin; Joseph K Pickrell; Christiane Bouchier; Magali Tichit; Olivier Neyrolles; Brigitte Gicquel; Judith R Kidd; Kenneth K Kidd; Alexandre Alcaïs; Josiane Ragimbeau; Sandra Pellegrini; Laurent Abel; Jean-Laurent Casanova; Lluis Quintana-Murci
Evolutionary dynamics of human Toll-like receptors and their different contributions to host defense.
PLoS genetics 2009;5(7):e1000562.
2009: Petra Moilanen; Matti Korppi; Liisa Hovi; Ariane Chapgier; Jacqueline Feinberg; Xiao-Fei Kong; Stéphanie Boisson-Dupuis; Mikko Arola; Jean-Laurent Casanova; Ulla M Saarinen-Pihkala
Successful hematopoietic stem cell transplantation from an unrelated donor in a child with interferon gamma receptor deficiency.
The Pediatric infectious disease journal 2009;28(7):658-60.
2009: László Maródi; Jean-Laurent Casanova
Primary immunodeficiency diseases: the J Project.
Lancet 2009;373(9682):2179-81.
2009: Capucine Picard; Anne Puel; S-Y Zhang; Jacinta Bustamante; V Sancho-Shimizu; L Abel; Jean-Laurent Casanova
[Genetic susceptibility and infection in children].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2009;16(6):934-5.
2009: Ariane Chapgier; Xiao-Fei Kong; Stéphanie Boisson-Dupuis; Emmanuelle Jouanguy; Diana Averbuch; Jacqueline Feinberg; Shen-Ying Zhang; Jacinta Bustamante; Guillaume Vogt; Julien Lejeune; Eleonore Mayola; Ludovic de Beaucoudrey; Laurent Abel; Dan Engelhard; Jean-Laurent Casanova
A partial form of recessive STAT1 deficiency in humans.
The Journal of clinical investigation 2009;119(6):1502-14.
2009: Bénédicte Neven; Sandrine Leroy; Hélène Decaluwe; Françoise Le Deist; Capucine Picard; Despina Moshous; Nizar Mahlaoui; Marianne Debré; Jean-Laurent Casanova; Liliane Dal Cortivo; Yoann Madec; Salima Hacein-Bey-Abina; Geneviève de Saint Basile; Jean-Pierre De Villartay; Stéphane Blanche; Marina Cavazzana-Calvo; Alain Fischer
Long-term outcome after hematopoietic stem cell transplantation of a single-center cohort of 90 patients with severe combined immunodeficiency.
Blood 2009;113(17):4114-24.
2009: Aude Magerus-Chatinet; Marie-Claude Stolzenberg; Maria S Loffredo; Bénédicte Neven; Catherine Schaffner; Nicolas Ducrot; Peter Arkwright; Brigitte Bader-Meunier; José Barbot; Stéphane Blanche; Jean-Laurent Casanova; Marianne Debré; Alina Ferster; Claire Fieschi; Benoit Florkin; Claire Galambrun; Olivier Hermine; Olivier Lambotte; Eric Solary; Caroline Thomas; Francoise Le Deist; Capucine Picard; Alain Fischer; Frédéric Rieux-Laucat
FAS-L, IL-10, and double-negative CD4- CD8- TCR alpha/beta+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function.
Blood 2009;113(13):3027-30.
2009: Mahnaz Sadeghi-Shanbestari; Khalil Ansarin; Seyed Hudieh Maljaei; Mandana Rafeey; Zakaria Pezeshki; Ahmmad Kousha; Reza Baradaran; Jean-Laurent Casanova; Jacqueline Feinberg; Jean-Pierre De Villartay
Immunologic aspects of patients with disseminated bacille Calmette-Guerin disease in north-west of Iran.
Italian journal of pediatrics 2009;35():42.
2008: Shen-Ying Zhang; Stéphanie Boisson-Dupuis; Ariane Chapgier; Kun Yang; Jacinta Bustamante; Anne Puel; Capucine Picard; Laurent Abel; Emmanuelle Jouanguy; Jean-Laurent Casanova
Inborn errors of interferon (IFN)-mediated immunity in humans: insights into the respective roles of IFN-alpha/beta, IFN-gamma, and IFN-lambda in host defense.
Immunological reviews 2008;226():29-40.
2008: Loïc de Pontual; Philippe Ovetchkine; Diana Rodriguez; Audrey Grant; Anne Puel; Jacinta Bustamante; Sabine Plancoulaine; Laurent Yona; Pierre-Yves Lienhart; Danièle Dehesdin; Michel Huerre; Régis Tournebize; Philippe Sansonetti; Laurent Abel; Jean-Laurent Casanova
Rhinoscleroma: a French national retrospective study of epidemiological and clinical features.
Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2008;47(11):1396-402.
2008: Isabelle Isnardi; Yen-Shing Ng; Iva Srdanovic; Roja Motaghedi; Sergei Rudchenko; Horst von Bernuth; Shen-Ying Zhang; Anne Puel; Emmanuelle Jouanguy; Capucine Picard; Ben-Zion Garty; Yildiz Camcioglu; Rainer Doffinger; Dinakantha Kumararatne; Graham Davies; John Gallin; Soichi Haraguchi; Noorbibi K Day; Jean-Laurent Casanova; Eric Meffre
IRAK-4- and MyD88-dependent pathways are essential for the removal of developing autoreactive B cells in humans.
Immunity 2008;29(5):746-57.
2008: Jerzy Fraczek; Tae Whan Kim; Hui Xiao; Jianhong Yao; Qian Wen; Yali Li; Jean-Laurent Casanova; Juliusz Pryjma; Xiaoxia Li
The kinase activity of IL-1 receptor-associated kinase 4 is required for interleukin-1 receptor/toll-like receptor-induced TAK1-dependent NFkappaB activation.
The Journal of biological chemistry 2008;283(46):31697-705.
2008: Filomeen Haerynck; Steve M Holland; Sergio D Rosenzweig; Jean-Laurent Casanova; Petra Schelstraete; Frans De Baets
Disseminated Mycobacterium avium infection in a patient with a novel mutation in the interleukin-12 receptor-beta1 chain.
The Journal of pediatrics 2008;153(5):721-2.
2008: Marcos Luengo-Blanco; Carolina Prando; Jacinta Bustamante; Walmir Cutrim Aragão-Filho; Paulo Vitor Soeiro Pereira; Jussara Rehder; Carolyn Padden; Jean-Laurent Casanova; Peter E Newburger; Antonio Condino-Neto
Essential role of nuclear factor-kappaB for NADPH oxidase activity in normal and anhidrotic ectodermal dysplasia leukocytes.
Blood 2008;112(4):1453-60.
2008: Guillaume Vogt; Jacinta Bustamante; Ariane Chapgier; Jacqueline Feinberg; Stephanie Boisson Dupuis; Capucine Picard; Nizar Mahlaoui; Laure Gineau; Alexandre Alcaïs; Christophe Lamaze; Jennifer M Puck; Geneviève de Saint Basile; Claudia Djambas Khayat; Raymond Mikhael; Jean-Laurent Casanova
Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation.
The Journal of experimental medicine 2008;205(8):1729-37.
2008: Jean-Laurent Casanova; Claire Fieschi; Shen-Ying Zhang; Laurent Abel
Revisiting human primary immunodeficiencies.
Journal of internal medicine 2008;264(2):115-27.
2008: Sophie Guia; Céline Cognet; Ludovic de Beaucoudrey; Marlowe S Tessmer; Emmanuelle Jouanguy; Claire Berger; Orchidée Filipe-Santos; Jacqueline Feinberg; Yildiz Camcioglu; Jacob Levy; Suliman Al Jumaah; Sami Al-Hajjar; Jean-Louis Stephan; Claire Fieschi; Laurent Abel; Laurent Brossay; Jean-Laurent Casanova; Eric Vivier
A role for interleukin-12/23 in the maturation of human natural killer and CD56+ T cells in vivo.
Blood 2008;111(10):5008-16.
2008: Jacinta Bustamante; Shen-Ying Zhang; Horst von Bernuth; Laurent Abel; Jean-Laurent Casanova
From infectious diseases to primary immunodeficiencies.
Immunology and allergy clinics of North America 2008;28(2):235-58, vii.
2008: Rebecca A Marsh; Anne W Lucky; THOMAS WALSH; M Cristina Pacheco; Michael G Rinaldi; Erica Mailler-Savage; Anne Puel; Jean-Laurent Casanova; Jack J Bleesing; Marie-Dominique Filippi; David A Williams; Michael O Daines; Alexandra H Filipovich
Cutaneous infection with Metarhizium anisopliae in a patient with hypohidrotic ectodermal dysplasia and immune deficiency.
The Pediatric infectious disease journal 2008;27(3):283-4.
2008: Jeannette L Comeau; Tong-Jun Lin; Marian B Macken; Bo Li; Cheng-Lung KU; Horst von Bernuth; Jean-Laurent Casanova; Andrew C Issekutz
Staphylococcal pericarditis, and liver and paratracheal abscesses as presentations in two new cases of interleukin-1 receptor associated kinase 4 deficiency.
The Pediatric infectious disease journal 2008;27(2):170-4.
2008: Jacinta Bustamante; Stéphanie Boisson-Dupuis; Emmanuelle Jouanguy; Capucine Picard; Anne Puel; Laurent Abel; Jean-Laurent Casanova
Novel primary immunodeficiencies revealed by the investigation of paediatric infectious diseases.
Current opinion in immunology 2008;20(1):39-48.
2008: Martin Rottman; Claire Soudais; Guillaume Vogt; Laurent Renia; Jean-François Emile; Hélène Decaluwe; Jean-Louis Gaillard; Jean-Laurent Casanova
IFN-gamma mediates the rejection of haematopoietic stem cells in IFN-gammaR1-deficient hosts.
PLoS medicine 2008;5(1):e26.
2008: Anne Puel; Capucine Picard; Mathie Lorrot; Charlotte Pons; Maya Chrabieh; Lazaro LORENZO; Maria Mamani-Matsuda; Emmanuelle Jouanguy; Dominique Gendrel; Jean-Laurent Casanova
Recurrent staphylococcal cellulitis and subcutaneous abscesses in a child with autoantibodies against IL-6.
Journal of immunology (Baltimore, Md. : 1950) 2008;180(1):647-54.
2007: Vanessa Sancho-Shimizu; Shen-Ying Zhang; Laurent Abel; Marc Tardieu; Flore Rozenberg; Emmanuelle Jouanguy; Jean-Laurent Casanova
Genetic susceptibility to herpes simplex virus 1 encephalitis in mice and humans.
Current opinion in allergy and clinical immunology 2007;7(6):495-505.
2007: Shen-Ying Zhang; Emmanuelle Jouanguy; Vanessa Sancho-Shimizu; Horst von Bernuth; Kun Yang; Laurent Abel; Capucine Picard; Anne Puel; Jean-Laurent Casanova
Human Toll-like receptor-dependent induction of interferons in protective immunity to viruses.
Immunological reviews 2007;220():225-36.
2007: Martin Rottman; Emilie Catherinot; Patrick Hochedez; Jean-François Emile; Jean-Laurent Casanova; Jean-Louis Gaillard; Claire Soudais
Importance of T cells, gamma interferon, and tumor necrosis factor in immune control of the rapid grower Mycobacterium abscessus in C57BL/6 mice.
Infection and immunity 2007;75(12):5898-907.
2007: Lluis Quintana-Murci; Alexandre Alcaïs; Laurent Abel; Jean-Laurent Casanova
Immunology in natura: clinical, epidemiological and evolutionary genetics of infectious diseases.
Nature immunology 2007;8(11):1165-71.
2007: Raif S Geha; Luigi D Notarangelo; Jean-Laurent Casanova; Helen Chapel; Mary Ellen Conley; Alain Fischer; Lennart Hammarström; Shigeaki Nonoyama; Hans D Ochs; Jennifer M Puck; Chaim M Roifman; Reinhard Seger; Josiah Wedgwood
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
The Journal of allergy and clinical immunology 2007;120(4):776-94.
2007: Elana Lavine; Raz Somech; Jun Yan Zhang; Anne Puel; Xavier Bossuyt; Capucine Picard; Jean-Laurent Casanova; Chaim M Roifman
Cellular and humoral aberrations in a kindred with IL-1 receptor-associated kinase 4 deficiency.
The Journal of allergy and clinical immunology 2007;120(4):948-50.
2007: Martin Chalumeau; Dominique Monnet; Antoine P Brézin; Dominique Gendrel; Jean-Laurent Casanova; Bénédicte Gérard; Sylvie Chollet-Martin
Chorioretinal lesions as the unique feature of complete chronic granulomatous disease in an 8-year-old girl.
European journal of pediatrics 2007;166(10):1069-70.
2007: Jean-Laurent Casanova; Laurent Abel
Primary immunodeficiencies: a field in its infancy.
Science (New York, N.Y.) 2007;317(5838):617-9.
2007: Daniela Boselli; Giuliana Losana; Paola Bernabei; Daniela Bosisio; Pam Drysdale; Rolf Kiessling; John S H Gaston; David A Lammas; Jean-Laurent Casanova; Dinakantha S Kumararatne; Francesco Novelli
IFN-gamma regulates Fas ligand expression in human CD4+ T lymphocytes and controls their anti-mycobacterial cytotoxic functions.
European journal of immunology 2007;37(8):2196-204.
2007: Francis Serour; Avraham Mizrahi; Eli Somekh; Jacqueline Feinberg; Capucine Picard; Jean-Laurent Casanova; Ilan Dalal
Analysis of the interleukin-12/interferon-gamma pathway in children with non-tuberculous mycobacterial cervical lymphadenitis.
European journal of pediatrics 2007;166(8):835-41.
2007: Oded Scheuerman; Ludovic de Beaucoudrey; Vered Hoffer; Jacqueline Feinberg; Jean-Laurent Casanova; Ben-Zion Garty
Mycobacterial disease in a child with surface-expressed non-functional interleukin-12Rbeta1 chains.
The Israel Medical Association journal : IMAJ 2007;9(7):560-1.
2007: Jacinta Bustamante; Guzide Aksu; Guillaume Vogt; Ludovic de Beaucoudrey; Ferah Genel; Ariane Chapgier; Orchidée Filipe-Santos; Jacqueline Feinberg; Jean-François Emile; Necil Kutukculer; Jean-Laurent Casanova
BCG-osis and tuberculosis in a child with chronic granulomatous disease.
The Journal of allergy and clinical immunology 2007;120(1):32-8.
2007: Dirk Holzinger; Carl Jorns; Silke Stertz; Stéphanie Boisson-Dupuis; Robert Thimme; Manfred Weidmann; Jean-Laurent Casanova; Otto Haller; Georg Kochs
Induction of MxA gene expression by influenza A virus requires type I or type III interferon signaling.
Journal of virology 2007;81(14):7776-85.
2007: Emmanuelle Jouanguy; Shen-Ying Zhang; Ariane Chapgier; Vanessa Sancho-Shimizu; Anne Puel; Capucine Picard; Stéphanie Boisson-Dupuis; Laurent Abel; Jean-Laurent Casanova
Human primary immunodeficiencies of type I interferons.
Biochimie 2007;89(6-7):878-83.
2007: Guillaume Vogt; Benoît Vogt; Nadia Chuzhanova; Karin Julenius; David N Cooper; Jean-Laurent Casanova
Gain-of-glycosylation mutations.
Current opinion in genetics & development 2007;17(3):245-51.
2007: Ewa Bernatowska; Beata Wolska-Kusnierz; Malgorzata Pac; Magdalena Kurenko-Deptuch; Zofia Zwolska; Jean-Laurent Casanova; Barbara Piatosa; Jacques van Dongen; Kazimierz Roszkowski; Bozena Mikoluc; Maja Klaudel-Dreszler; Anna Liberek
Disseminated bacillus Calmette-Guérin infection and immunodeficiency.
Emerging infectious diseases 2007;13(5):799-801.
2007: Jean-Laurent Casanova; Laurent Abel
Human genetics of infectious diseases: a unified theory.
The EMBO journal 2007;26(4):915-22.
2007: Jacinta Bustamante; Capucine Picard; Claire Fieschi; Orchidée Filipe-Santos; Jacqueline Feinberg; Christian Perronne; Ariane Chapgier; Ludovic de Beaucoudrey; Guillaume Vogt; Damien Sanlaville; Arnaud Lemainque; Jean-François Emile; Laurent Abel; Jean-Laurent Casanova
A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease.
Journal of medical genetics 2007;44(2):e65.
2007: Capucine Picard; Horst von Bernuth; Cheng-Lung KU; Kun Yang; Anne Puel; Jean-Laurent Casanova
Inherited human IRAK-4 deficiency: an update.
Immunologic research 2007;38(1-3):347-52.
2007: Capucine Picard; Laurent Abel; Jean-Laurent Casanova
Human monogenic disorders that confer predisposition to specific infections.
Novartis Foundation symposium 2007;281():65-73; discussion 73-8, 208-9.
2007: Cheng-Lung KU; Capucine Picard; Melinda Erdös; Axel Jeurissen; Jacinta Bustamante; Anne Puel; Horst von Bernuth; Orchidée Filipe-Santos; Huey-Hsuan Chang; Tatiana Lawrence; Marc Raes; László Maródi; Xavier Bossuyt; Jean-Laurent Casanova
IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease.
Journal of medical genetics 2007;44(1):16-23.
2006: Céline Eidenschenk; Emmanuelle Jouanguy; Alexandre Alcaïs; Jean-Jacques Mention; Benoit Pasquier; Ingrid M Fleckenstein; Anne Puel; Laure Gineau; Jean-Claude Carel; Eric Vivier; Françoise Le Deist; Jean-Laurent Casanova
Familial NK cell deficiency associated with impaired IL-2- and IL-15-dependent survival of lymphocytes.
Journal of immunology (Baltimore, Md. : 1950) 2006;177(12):8835-43.
2006: Horst von Bernuth; Cheng-Lung KU; Carlos Rodriguez-Gallego; Shenying Zhang; Ben-Zion Garty; László Maródi; Helen Chapel; Maya Chrabieh; Richard L Miller; Capucine Picard; Anne Puel; Jean-Laurent Casanova
A fast procedure for the detection of defects in Toll-like receptor signaling.
Pediatrics 2006;118(6):2498-503.
2006: Donald J Davidson; Andrew J Currie; Dawn Bowdish; Kelly L Brown; Carrie M Rosenberger; Rebecca C Ma; Johan Bylund; Paul A Campsall; Anne Puel; Capucine Picard; Jean-Laurent Casanova; Stuart E Turvey; Robert E W Hancock; Rebecca S Devon; David P Speert
IRAK-4 mutation (Q293X): rapid detection and characterization of defective post-transcriptional TLR/IL-1R responses in human myeloid and non-myeloid cells.
Journal of immunology (Baltimore, Md. : 1950) 2006;177(11):8202-11.
2006: Orchidée Filipe-Santos; Jacinta Bustamante; Ariane Chapgier; Guillaume Vogt; Ludovic de Beaucoudrey; Jacqueline Feinberg; Emmanuelle Jouanguy; Stéphanie Boisson-Dupuis; Claire Fieschi; Capucine Picard; Jean-Laurent Casanova
Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features.
Seminars in immunology 2006;18(6):347-61.
2006: Laurent Abel; Jean-Laurent Casanova
Human genetics of infectious diseases: Fundamental insights from clinical studies.
Seminars in immunology 2006;18(6):327-9.
2006: Armanda Casrouge; Shen-Ying Zhang; Céline Eidenschenk; Emmanuelle Jouanguy; Anne Puel; Kun Yang; Alexandre Alcais; Capucine Picard; Nora Mahfoufi; Nathalie Nicolas; Lazaro LORENZO; Sabine Plancoulaine; Brigitte Sénéchal; Frederic Geissmann; Koichi Tabeta; Kasper Hoebe; Xin Du; Richard L Miller; Bénédicte Héron; Cyril Mignot; Thierry Billette de Villemeur; Pierre Lebon; Olivier Dulac; Flore Rozenberg; Bruce Beutler; Marc Tardieu; Laurent Abel; Jean-Laurent Casanova
Herpes simplex virus encephalitis in human UNC-93B deficiency.
Science (New York, N.Y.) 2006;314(5797):308-12.
2006: Capucine Picard; Orchidée Filipe-Santos; Ariane Chapgier; Horst von Bernuth; Guillaume Vogt; Jean-Laurent Casanova
[Genetic predisposition and children infectious disease].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2006;13(10):1342-6.
2006: Francesc Miro; Cinzia Nobile; Nicolas Blanchard; Marianne Lind; Orchidée Filipe-Santos; Claire Fieschi; Ariane Chapgier; Guillaume Vogt; Ludovic de Beaucoudrey; Dinakantha S Kumararatne; Françoise Le Deist; Jean-Laurent Casanova; Sebastian Amigorena; Claire Hivroz
T cell-dependent activation of dendritic cells requires IL-12 and IFN-gamma signaling in T cells.
Journal of immunology (Baltimore, Md. : 1950) 2006;177(6):3625-34.
2006: Paul Verdu; Luis B Barreiro; Etienne Patin; Antoine Gessain; Olivier Cassar; Judith R Kidd; Kenneth K Kidd; Doron M Behar; Alain Froment; Evelyne Heyer; Lucas Sica; Jean-Laurent Casanova; Laurent Abel; Lluis Quintana-Murci
Evolutionary insights into the high worldwide prevalence of MBL2 deficiency alleles.
Human molecular genetics 2006;15(17):2650-8.
2006: Raffaele Renella; Capucine Picard; Bénédicte Neven; Marie Ouachée-Chardin; Jean-Laurent Casanova; Françoise Le Deist; Marina Cavazzana-Calvo; Stéphane Blanche; Alain Fischer
Human leucocyte antigen-identical haematopoietic stem cell transplantation in major histocompatiblity complex class II immunodeficiency: reduced survival correlates with an increased incidence of acute graft-versus-host disease and pre-existing viral infections.
British journal of haematology 2006;134(5):510-6.
2006: Ariane Chapgier; Stéphanie Boisson-Dupuis; Emmanuelle Jouanguy; Guillaume Vogt; Jacqueline Feinberg; Ada Prochnicka-Chalufour; Armanda Casrouge; Kun Yang; Claire Soudais; Claire Fieschi; Orchidée Filipe Santos; Jacinta Bustamante; Capucine Picard; Ludovic de Beaucoudrey; Jean-François Emile; Peter Arkwright; Robert D Schreiber; Claudia Rolinck-Werninghaus; Angela Rösen-Wolff; Klaus Magdorf; Joachim Roesler; Jean-Laurent Casanova
Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease.
PLoS genetics 2006;2(8):e131.
2006: Capucine Picard; Jean-Laurent Casanova; Laurent Abel
Mendelian traits that confer predisposition or resistance to specific infections in humans.
Current opinion in immunology 2006;18(4):383-90.
2006: Jianzhong Qin; Jianhong Yao; Grace Cui; Hui Xiao; Tae Whan Kim; Jerzy Fraczek; Paul Wightman; Shintaro Sato; Shizuo Akira; Anne Puel; Jean-Laurent Casanova; Bing Su; Xiaoxia Li
TLR8-mediated NF-kappaB and JNK activation are TAK1-independent and MEKK3-dependent.
The Journal of biological chemistry 2006;281(30):21013-21.
2006: Jamila El Baghdadi; Marianna Orlova; Andrea Alter; Brigitte Ranque; Mohamed Chentoufi; Faouzia Lazrak; Moulay-Idriss Archane; Jean-Laurent Casanova; Abdellah Benslimane; Erwin Schurr; Laurent Abel
An autosomal dominant major gene confers predisposition to pulmonary tuberculosis in adults.
The Journal of experimental medicine 2006;203(7):1679-84.
2006: Sophie Dupuis-Girod; Caterina Cancrini; Françoise Le Deist; Paolo Palma; Christine Bodemer; Anne Puel; Susanna Livadiotti; Capucine Picard; Xavier Bossuyt; Paolo Rossi; Alain Fischer; Jean-Laurent Casanova
Successful allogeneic hemopoietic stem cell transplantation in a child who had anhidrotic ectodermal dysplasia with immunodeficiency.
Pediatrics 2006;118(1):e205-11.
2006: Capucine Picard; Fethi Mellouli; Renan Duprez; Gaëlle Chédeville; Bénédicte Neven; Sylvie Fraitag; Jean Delaunay; Françoise Le Deist; Alain Fischer; Stéphane Blanche; Christine Bodemer; Antoine Gessain; Jean-Laurent Casanova; Mohamed Bejaoui
Kaposi's sarcoma in a child with Wiskott-Aldrich syndrome.
European journal of pediatrics 2006;165(7):453-7.
2006: Maria Tsolia; Ariane Chapgier; Polyxeni Taprantzi; Marina Servitzoglou; Ioannis Tassios; Nikolaos Spyridis; Fotini Papageorgiou; Orchidée Filipe Santos; Jean-Laurent Casanova; Panayiotis Spyridis
Disseminated nontuberculous mycobacterial infection in a child with interferon-gamma receptor 1 deficiency.
European journal of pediatrics 2006;165(7):458-61.
2006: Gönül Tanir; Figen Dogu; Nilden Tuygun; Aydan Ikinciogullari; Caner Aytekin; Cumhur Aydemir; Mutlu Yuksek; Esin Cengiz Boduroglu; Ludovic de Beaucoudrey; Claire Fieschi; Jacqueline Feinberg; Jean-Laurent Casanova; Emel Babacan
Complete deficiency of the IL-12 receptor beta1 chain: three unrelated Turkish children with unusual clinical features.
European journal of pediatrics 2006;165(6):415-7.
2006: Guillaume Vogt; Ariane Chapgier; Nadia Chuzhanova; Jacqueline Feinberg; Claire Fieschi; Stéphanie Boisson-Dupuis; Alexandre Alcaïs; Laurent Abel; David N Cooper; Jean-Laurent Casanova
[Gains of glycosylation mutations].
Médecine sciences : M/S 2006;22(5):480-2.
2006: Ariane Chapgier; Robert F Wynn; Emmanuelle Jouanguy; Orchidée Filipe-Santos; Shenying Zhang; Jacqueline Feinberg; Kay Hawkins; Jean-Laurent Casanova; Peter Arkwright
Human complete Stat-1 deficiency is associated with defective type I and II IFN responses in vitro but immunity to some low virulence viruses in vivo.
Journal of immunology (Baltimore, Md. : 1950) 2006;176(8):5078-83.
2006: Luigi D Notarangelo; Jean-Laurent Casanova; Mary Ellen Conley; Helen Chapel; Alain Fischer; Jennifer M Puck; Chaim M Roifman; Reinhard Seger; Raif S Geha
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest, 2005.
The Journal of allergy and clinical immunology 2006;117(4):883-96.
2006: María Cardenes; Horst von Bernuth; Ayoze García-Saavedra; Esther Santiago; Anne Puel; Cheng-Lung KU; Jean-François Emile; Capucine Picard; Jean-Laurent Casanova; Elena Colino; Ana Bordes; Antonio Garfia; Carlos Rodríguez-Gallego
Autosomal recessive interleukin-1 receptor-associated kinase 4 deficiency in fourth-degree relatives.
The Journal of pediatrics 2006;148(4):549-51.
2006: Marie Ouachée-Chardin; Caroline Elie; Geneviève de Saint Basile; Françoise Le Deist; Nizar Mahlaoui; Capucine Picard; Bénédicte Neven; Jean-Laurent Casanova; Marc Tardieu; Marina Cavazzana-Calvo; Stéphane Blanche; Alain Fischer
Hematopoietic stem cell transplantation in hemophagocytic lymphohistiocytosis: a single-center report of 48 patients.
Pediatrics 2006;117(4):e743-50.
2006: Céline Eidenschenk; Jean Dunne; Emmanuelle Jouanguy; Claire Fourlinnie; Laure Gineau; Delphine Bacq; Corrina McMahon; Owen Smith; Jean-Laurent Casanova; Laurent Abel; Conleth Feighery
A novel primary immunodeficiency with specific natural-killer cell deficiency maps to the centromeric region of chromosome 8.
American journal of human genetics 2006;78(4):721-7.
2006: Anne Puel; Janine Reichenbach; Jacinta Bustamante; Cheng-Lung KU; Jacqueline Feinberg; Rainer Döffinger; Marion Bonnet; Orchidée Filipe-Santos; Ludovic de Beaucoudrey; Anne Durandy; Gerd Horneff; Francesco Novelli; Volker Wahn; Asma Smahi; Alain Israel; Tim Niehues; Jean-Laurent Casanova
The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.
American journal of human genetics 2006;78(4):691-701.
2006: Necil Kutukculer; Ferah Genel; Guzide Aksu; Bülent Karapinar; Can Ozturk; Cengiz Cavusoglu; Jean-Laurent Casanova; Claire Fieschi
Cutaneous leukocytoclastic vasculitis in a child with interleukin-12 receptor beta-1 deficiency.
The Journal of pediatrics 2006;148(3):407-9.
2006: Raffaele Renella; Jean-Marie Perez; Sylvie Chollet-Martin; Sabine Sarnacki; Alain Fischer; Stéphane Blanche; Jean-Laurent Casanova; Capucine Picard
Burkholderia pseudomallei infection in chronic granulomatous disease.
European journal of pediatrics 2006;165(3):175-7.
2006: Dietke Buck; Despina Moshous; Régina de Chasseval; Yunmei Ma; Françoise Le Deist; Marina Cavazzana-Calvo; Alain Fischer; Jean-Laurent Casanova; Michael R Lieber; Jean-Pierre De Villartay
Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV.
European journal of immunology 2006;36(1):224-35.
2006: Pawel Remiszewski; Barbara Roszkowska-Sliz; Jolanta Winek; Ariane Chapgier; Jacquelin Feinberg; Renata Langfort; Iwona Bestry; Ewa Augustynowicz-Kopeć; Jakub Ptak; Jean-Laurent Casanova; Ewa Rowińska-Zakrzewska
Disseminated Mycobacterium avium infection in a 20-year-old female with partial recessive IFNgammaR1 deficiency.
Respiration; international review of thoracic diseases 2006;73(3):375-8.
2006: Anita E Smyth; Paul Jackson; David A Lammas; M Suhail Asghar; Alistair D Crockard; Jean-Laurent Casanova; Dinakantha S Kumararatne; J David M Edgar
Differential response to interferon-gamma therapy in a family with dominant negative partial interferon-gamma receptor1 deficiency.
European journal of pediatrics 2006;165(1):71-2.
2005: Alexandre Alcaïs; Claire Fieschi; Laurent Abel; Jean-Laurent Casanova
Tuberculosis in children and adults: two distinct genetic diseases.
The Journal of experimental medicine 2005;202(12):1617-21.
2005: Philip M D Wood; Claire Fieschi; Capucine Picard; Tom H M Ottenhoff; Jean-Laurent Casanova; Dinakantha S Kumararatne
Inherited defects in the interferon-gamma receptor or interleukin-12 signalling pathways are not sufficient to cause allergic disease in children.
European journal of pediatrics 2005;164(12):741-7.
2005: davood mansouri; Parisa Adimi; Mehdi Mirsaeidi; Nahal Mansouri; Soheila Khalilzadeh; Mohammad Reza Masjedi; Parvaneh Adimi; Payam Tabarsi; Mohammad Naderi; Orchidée Filipe-Santos; Guillaume Vogt; Ludovic de Beaucoudrey; Jacinta Bustamante; Ariane Chapgier; Jacqueline Feinberg; Ali Akbar Velayati; Jean-Laurent Casanova
Inherited disorders of the IL-12-IFN-gamma axis in patients with disseminated BCG infection.
European journal of pediatrics 2005;164(12):753-7.
2005: Horst von Bernuth; Anne Puel; Cheng-Lung KU; Kun Yang; Jacinta Bustamante; Huey-Hsuan Chang; Capucine Picard; Jean-Laurent Casanova
Septicemia without sepsis: inherited disorders of nuclear factor-kappa B-mediated inflammation.
Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2005;41 Suppl 7():S436-9.
2005: Kun Yang; Anne Puel; Shenying Zhang; Céline Eidenschenk; Cheng-Lung KU; Armanda Casrouge; Capucine Picard; Horst von Bernuth; Brigitte Senechal; Sabine Plancoulaine; Sami Al-Hajjar; Abdulaziz Al-Ghonaium; László Maródi; Donald Davidson; David P Speert; Chaim M Roifman; Ben-Zion Garty; Adrian Ozinsky; Franck J Barrat; Robert L Coffman; Richard L Miller; Xiaoxia Li; Pierre Lebon; Carlos Rodriguez-Gallego; Helen Chapel; Frederic Geissmann; Emmanuelle Jouanguy; Jean-Laurent Casanova
Human TLR-7-, -8-, and -9-mediated induction of IFN-alpha/beta and -lambda Is IRAK-4 dependent and redundant for protective immunity to viruses.
Immunity 2005;23(5):465-78.
2005: Jean-Pierre De Villartay; Annick Lim; Hamoud Al-Mousa; Sophie Dupont; Julie Déchanet-Merville; Edith Coumau-Gatbois; Marie-lise GOUGEON; Arnaud Lemainque; Céline Eidenschenk; Emmanuelle Jouanguy; Laurent Abel; Jean-Laurent Casanova; Alain Fischer; Françoise Le Deist
A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection.
The Journal of clinical investigation 2005;115(11):3291-9.
2005: Emilie Catherinot; Claire Fieschi; Jacqueline Feinberg; Jean-Laurent Casanova; Louis-Jean Couderc
[Genetic susceptibility to mycobacterial disease: Mendelian disorders of the interleukin-12 -interferon-gamma axis].
Revue des maladies respiratoires 2005;22(5 Pt 1):767-76.
2005: Charlotte Catalano-Pons; Pierre Quartier; Marianne Leruez-Ville; Florentia Kaguelidou; Dominique Gendrel; Gérard Lenoir; Jean-Laurent Casanova; Damien Bonnet
Primary cytomegalovirus infection, atypical Kawasaki disease, and coronary aneurysms in 2 infants.
Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2005;41(5):e53-6.
2005: Dewton Moraes-Vasconcelos; Anete Sevciovic Grumach; Augusto Yamaguti; Maria Elisa B Andrade; Claire Fieschi; Ludovic de Beaucoudrey; Jean-Laurent Casanova; Alberto J S Duarte
Paracoccidioides brasiliensis disseminated disease in a patient with inherited deficiency in the beta1 subunit of the interleukin (IL)-12/IL-23 receptor.
Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2005;41(4):e31-7.
2005: Natascha Remus; Jamila El Baghdadi; Laurent Abel; Jean-Laurent Casanova
[Genetics and immunity of tuberculosis].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2005;12 Suppl 2():S74-9.
2005: Jean-Laurent Casanova; Claire Fieschi; Jacinta Bustamante; Janine Reichenbach; Natascha Remus; Horst von Bernuth; Capucine Picard
From idiopathic infectious diseases to novel primary immunodeficiencies.
The Journal of allergy and clinical immunology 2005;116(2):426-30.
2005: Jean-Laurent Casanova; Laurent Abel
Inborn errors of immunity to infection: the rule rather than the exception.
The Journal of experimental medicine 2005;202(2):197-201.
2005: Bruce Beutler; Jean-Laurent Casanova
New frontiers in immunology. Workshop on the road ahead: future directions in fundamental and clinical immunology.
EMBO reports 2005;6(7):620-3.
2005: Cheng-Lung KU; Sophie Dupuis-Girod; Anna-Maria Dittrich; Jacinta Bustamante; Orchidée Filipe Santos; Ilka Schulze; Yves Bertrand; Gérard Couly; Christine Bodemer; Xavier Bossuyt; Capucine Picard; Jean-Laurent Casanova
NEMO mutations in 2 unrelated boys with severe infections and conical teeth.
Pediatrics 2005;115(5):e615-9.
2005: Claire Fieschi; Matthieu Allez; Jean-Laurent Casanova
High risk of infectious disease caused by salmonellae and mycobacteria infections in patients with Crohn disease treated with anti-interleukin-12 antibody.
Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2005;40(9):1381.
2005: Helen Chapel; Anne Puel; Horst von Bernuth; Capucine Picard; Jean-Laurent Casanova
Shigella sonnei meningitis due to interleukin-1 receptor-associated kinase-4 deficiency: first association with a primary immune deficiency.
Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2005;40(9):1227-31.
2005: Namik Ozbek; Claire Fieschi; Bafak T Yilmaz; Ludovic de Beaucoudrey; Beyhan Demirhan; Jacqueline Feinberg; Yunus Emre Bikmaz; Jean-Laurent Casanova
Interleukin-12 receptor beta 1 chain deficiency in a child with disseminated tuberculosis.
Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2005;40(6):e55-8.
2005: Amos Etzioni; Céline Eidenschenk; Rina Katz; Rafeal Beck; Jean-Laurent Casanova; Shimon Pollack
Fatal varicella associated with selective natural killer cell deficiency.
The Journal of pediatrics 2005;146(3):423-5.
2005: Ana Belinda Campos-Xavier; Jean-Laurent Casanova; Yves Doumaz; JOSUE FEINGOLD; Arnold Munnich; Valérie Cormier-Daire
Intrafamilial phenotypic variability of osteopetrosis due to chloride channel 7 (CLCN7) mutations.
American journal of medical genetics. Part A 2005;133A(2):216-8.
2005: Timo Ulrichs; Claire Fieschi; Eva Nevicka; Helmut Hahn; Martin Brezina; Stefan H E Kaufmann; Jean-Laurent Casanova; Klara Frecerova
Variable outcome of experimental interferon-gamma therapy of disseminated Bacillus Calmette-Guerin infection in two unrelated interleukin-12Rbeta1-deficient Slovakian children.
European journal of pediatrics 2005;164(3):166-72.
2005: Capucine Picard; Jean-Laurent Casanova
[Genetic predisposition and susceptibility to mycobacterial infections: the IL-12-IFNgamma axis deficiency].
Revue médicale de Bruxelles 2005;26(1):17-9.
2005: Cheng-Lung KU; Kun Yang; Jacinta Bustamante; Anne Puel; Horst von Bernuth; Orchidée Filipe Santos; Tatiana Lawrence; Huey-Hsuan Chang; Hamoud Al-Mousa; Capucine Picard; Jean-Laurent Casanova
Inherited disorders of human Toll-like receptor signaling: immunological implications.
Immunological reviews 2005;203():10-20.
2005: Alexandre Alcaïs; Marcelo T Mira; Jean-Laurent Casanova; Erwin Schurr; Laurent Abel
Genetic dissection of immunity in leprosy.
Current opinion in immunology 2005;17(1):44-8.
2005: Anne Puel; Kun Yang; Cheng-Lung KU; Horst von Bernuth; Jacinta Bustamante; Orchidée Filipe Santos; Tatiana Lawrence; Huey-Hsuan Chang; Hamoud Al-Mousa; Capucine Picard; Jean-Laurent Casanova
Heritable defects of the human TLR signalling pathways.
Journal of endotoxin research 2005;11(4):220-4.
2005: Capucine Picard; Jean-Laurent Casanova
Novel primary immunodeficiencies.
Advances in experimental medicine and biology 2005;568():89-99.
2005: Tatiana Lawrence; Anne Puel; Janine Reichenbach; Cheng-Lung KU; Ariane Chapgier; Ellen Renner; Véronique Minard-Colin; Marie Ouachée; Jean-Laurent Casanova
Autosomal-dominant primary immunodeficiencies.
Current opinion in hematology 2005;12(1):22-30.
2004: Susan E Dorman; Capucine Picard; David A Lammas; Klaus Heyne; Jaap T van Dissel; Richard Baretto; Sergio D Rosenzweig; Melanie Newport; Michael Levin; Joachim Roesler; Dinakantha S Kumararatne; Jean-Laurent Casanova; Steven M Holland
Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies.
Lancet 2004;364(9451):2113-21.
2004: Batool Sharifi-Mood; Minoo Mohraz; Seyed Davood Mansouri; Roya Alavi-Naini; Hamid Reza Kouhpayeh; Mohammad Naderi; Orchidce Filipe Santos; Guillaume Vogt; Ariane Chapgicr; Jacqueline Feinberg; Jean-Laurent Casanova; Taghi Naserpoor
Recurrent non-typhoidal salmonella bacteremia in a patient with interleukin -12p40 deficiency.
Iranian journal of allergy, asthma, and immunology 2004;3(4):197-200.
2004: Joachim Roesler; Mitchell E Horwitz; Capucine Picard; Pierre Bordigoni; Graham Davies; Ewa Koscielniak; Mike Levin; Paul Veys; Ursula Reuter; Ansgar Schulz; Christian Thiede; Thomas Klingebiel; Alain Fischer; Steven M Holland; Jean-Laurent Casanova; Wilhelm Friedrich
Hematopoietic stem cell transplantation for complete IFN-gamma receptor 1 deficiency: a multi-institutional survey.
The Journal of pediatrics 2004;145(6):806-12.
2004: Tim Niehues; Janine Reichenbach; Jennifer Neubert; Sonja Gudowius; Anne Puel; Gerd Horneff; Elke Lainka; Uta Dirksen; Horst Schroten; Rainer Döffinger; Jean-Laurent Casanova; Volker Wahn
Nuclear factor kappaB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia.
The Journal of allergy and clinical immunology 2004;114(6):1456-62.
2004: Capucine Picard; Jean-Laurent Casanova
Inherited disorders of cytokines.
Current opinion in pediatrics 2004;16(6):648-58.
2004: Sandra Weller; Moritz C Braun; Bruce K Tan; Andreas Rosenwald; Corinne Cordier; Mary Ellen Conley; Alessandro Plebani; Dinakantha S Kumararatne; Damien Bonnet; Olivier Tournilhac; Gil Tchernia; Birte Steiniger; Louis M Staudt; Jean-Laurent Casanova; Claude-Agnes Reynaud; Jean-Claude Weill
Human blood IgM "memory" B cells are circulating splenic marginal zone B cells harboring a prediversified immunoglobulin repertoire.
Blood 2004;104(12):3647-54.
2004: Calman MacLennan; Claire Fieschi; David A Lammas; Capucine Picard; Susan E Dorman; Ozden Sanal; Jenny M MacLennan; Steven M Holland; Tom H M Ottenhoff; Jean-Laurent Casanova; Dinakantha S Kumararatne
Interleukin (IL)-12 and IL-23 are key cytokines for immunity against Salmonella in humans.
The Journal of infectious diseases 2004;190(10):1755-7.
2004: Jacqueline Feinberg; Claire Fieschi; Rainer Doffinger; Max Feinberg; Tony Leclerc; Stéphanie Boisson-Dupuis; Capucine Picard; Jacinta Bustamante; Ariane Chapgier; Orchidée Filipe-Santos; Cheng-Lung KU; Ludovic de Beaucoudrey; Janine Reichenbach; Guillemette Antoni; Ramatoulaye Baldé; Alexandre Alcaïs; Jean-Laurent Casanova
Bacillus Calmette Guerin triggers the IL-12/IFN-gamma axis by an IRAK-4- and NEMO-dependent, non-cognate interaction between monocytes, NK, and T lymphocytes.
European journal of immunology 2004;34(11):3276-84.
2004: Francesco Novelli; Jean-Laurent Casanova
The role of IL-12, IL-23 and IFN-gamma in immunity to viruses.
Cytokine & growth factor reviews 2004;15(5):367-77.
2004: Claire Fieschi; Marita Bosticardo; Ludovic de Beaucoudrey; Stéphanie Boisson-Dupuis; Jacqueline Feinberg; Orchidée Filipe Santos; Jacinta Bustamante; Jacov Levy; Fabio Candotti; Jean-Laurent Casanova
A novel form of complete IL-12/IL-23 receptor beta1 deficiency with cell surface-expressed nonfunctional receptors.
Blood 2004;104(7):2095-101.
2004: Luigi D Notarangelo; Jean-Laurent Casanova; Alain Fischer; Jennifer M Puck; Fred S Rosen; Reinhard Seger; Raif S Geha
Primary immunodeficiency diseases: an update.
The Journal of allergy and clinical immunology 2004;114(3):677-87.
2004: Natascha Remus; Jamila El Baghdadi; Claire Fieschi; Jacqueline Feinberg; Thibaut Quintin; Mohamed Chentoufi; Erwin Schurr; Abdellah Benslimane; Jean-Laurent Casanova; Laurent Abel
Association of IL12RB1 polymorphisms with pulmonary tuberculosis in adults in Morocco.
The Journal of infectious diseases 2004;190(3):580-7.
2004: Caroline Laffort; Françoise Le Deist; Michel Favre; Sophie Caillat-Zucman; Isabelle Radford-Weiss; Marianne Debré; Sylvie Fraitag; Stéphane Blanche; Marina Cavazzana-Calvo; Geneviève de Saint Basile; Jean-Pierre De Villartay; Silvia Giliani; Gérard Orth; Jean-Laurent Casanova; Christine Bodemer; Alain Fischer
Severe cutaneous papillomavirus disease after haemopoietic stem-cell transplantation in patients with severe combined immune deficiency caused by common gammac cytokine receptor subunit or JAK-3 deficiency.
Lancet 2004;363(9426):2051-4.
2004: Jianzhong Qin; Zhengfan Jiang; Youcun Qian; Jean-Laurent Casanova; Xiaoxia Li
IRAK4 kinase activity is redundant for interleukin-1 (IL-1) receptor-associated kinase phosphorylation and IL-1 responsiveness.
The Journal of biological chemistry 2004;279(25):26748-53.
2004: Marita Bosticardo; Iren Witte; Claire Fieschi; Francesco Novelli; Jean-Laurent Casanova; Fabio Candotti
Retroviral-mediated gene transfer restores IL-12 and IL-23 signaling pathways in T cells from IL-12 receptor beta1-deficient patients.
Molecular therapy : the journal of the American Society of Gene Therapy 2004;9(6):895-901.
2004: Sophie Caillat-Zucman; Françoise Le Deist; Elie Haddad; monique Gannagé; Liliane Dal Cortivo; Nada Jabado; Salima Hacein-Bey-Abina; Stéphane Blanche; Jean-Laurent Casanova; A Fischer; Marina Cavazzana-Calvo
Impact of HLA matching on outcome of hematopoietic stem cell transplantation in children with inherited diseases: a single-center comparative analysis of genoidentical, haploidentical or unrelated donors.
Bone marrow transplantation 2004;33(11):1089-95.
2004: Jean-Laurent Casanova; Laurent Abel
Human Mannose-binding Lectin in Immunity: Friend, Foe, or Both?
The Journal of experimental medicine 2004;199(10):1295-9.
2004: Noorbibi Day; Nutthapong Tangsinmankong; Hans Ochs; Rajivi P Rucker; Capucine Picard; Jean-Laurent Casanova; Soichi Haraguchi; Robert Good
Interleukin receptor-associated kinase (IRAK-4) deficiency associated with bacterial infections and failure to sustain antibody responses.
The Journal of pediatrics 2004;144(4):524-6.
2004: Yildiz Camcioglu; Capucine Picard; Vincent Lacoste; Stéphanie Dupuis; Necla Akçakaya; Haluk Cokura; Gültekin Kaner; Cuyan Demirkesen; Sabine Plancoulaine; Jean-François Emile; Antoine Gessain; Jean-Laurent Casanova
HHV-8-associated Kaposi sarcoma in a child with IFNgammaR1 deficiency.
The Journal of pediatrics 2004;144(4):519-23.
2004: Mitsuteru Akahoshi; Mami Ishihara; Natascha Remus; Kazuko Uno; Katsuhisa Miyake; Tomomitsu Hirota; Kazuko Nakashima; Akira Matsuda; Mizuo Kanda; Tadao Enomoto; Shigeaki Ohno; Hitoshi Nakashima; Jean-Laurent Casanova; Julian M Hopkin; Mayumi Tamari; Xiao-Quan Mao; Taro Shirakawa
Association between IFNA genotype and the risk of sarcoidosis.
Human genetics 2004;114(5):503-9.
2004: Anne Puel; Capucine Picard; Cheng-Lung KU; Asma Smahi; Jean-Laurent Casanova
Inherited disorders of NF-kappaB-mediated immunity in man.
Current opinion in immunology 2004;16(1):34-41.
2004: Jean-Laurent Casanova
[Genetic predisposition to infectious diseases: identification of new genetic immunodeficiencies].
Bulletin et mémoires de l'Académie royale de médecine de Belgique 2004;159(1-2):132-6.
2004: Jean-Laurent Casanova; Laurent Abel
The human model: a genetic dissection of immunity to infection in natural conditions.
Nature reviews. Immunology 2004;4(1):55-66.
2004: Frédéric Bernard; Capucine Picard; Valérie Cormier-Daire; Céline Eidenschenk; Graziella Pinto; Jacinta-Cecilia Bustamante; Emmanuelle Jouanguy; Dominique Teillac-Hamel; Virginie Colomb; Isabelle Funck-Brentano; Véronique Pascal; Eric Vivier; Alain Fischer; Françoise Le Deist; Jean-Laurent Casanova
A novel developmental and immunodeficiency syndrome associated with intrauterine growth retardation and a lack of natural killer cells.
Pediatrics 2004;113(1 Pt 1):136-41.
2004: Rainer Döffinger; Matthew R Helbert; Gabriela Barcenas-Morales; Kun Yang; Stéphanie Dupuis; Lourdes Ceron-Gutierrez; Clara Espitia-Pinzon; Neil Barnes; Graham Bothamley; Jean-Laurent Casanova; Hilary J Longhurst; Dinakantha S Kumararatne
Autoantibodies to interferon-gamma in a patient with selective susceptibility to mycobacterial infection and organ-specific autoimmunity.
Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2004;38(1):e10-4.
2003: Mary Ellen Conley; Delphine Saragoussi; Luigi D Notarangelo; Amos Etzioni; Jean-Laurent Casanova
An international study examining therapeutic options used in treatment of Wiskott-Aldrich syndrome.
Clinical immunology (Orlando, Fla.) 2003;109(3):272-7.
2003: Capucine Picard; Anne Puel; Jacinta Bustamante; Cheng-Lung KU; Jean-Laurent Casanova
Primary immunodeficiencies associated with pneumococcal disease.
Current opinion in allergy and clinical immunology 2003;3(6):451-9.
2003: Gilles Courtois; Asma Smahi; Janine Reichenbach; Rainer Döffinger; Caterina Cancrini; Marion Bonnet; Anne Puel; Christine Chable-Bessia; Shoji Yamaoka; Jacqueline Feinberg; Sophie Dupuis-Girod; Christine Bodemer; Susanna Livadiotti; Francesco Novelli; Paolo Rossi; Alain Fischer; Alain Israël; Arnold Munnich; Françoise Le Deist; Jean-Laurent Casanova
A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency.
The Journal of clinical investigation 2003;112(7):1108-15.
2003: Isabel Caragol; Miquel Raspall; Claire Fieschi; Jaqueline Feinberg; María N Larrosa; Manuel Hernández; Concepción Figueras; Jose-María Bertrán; Jean-Laurent Casanova; Teresa Español
Clinical tuberculosis in 2 of 3 siblings with interleukin-12 receptor beta1 deficiency.
Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2003;37(2):302-6.
2003: Orna Staretz-Haham; Rimma Melamed; Matityahu Lifshitz; Nurith Porat; Claire Fieschi; Jean-Laurent Casanova; Jacov Levy
Interleukin-12 receptor beta1 deficiency presenting as recurrent Salmonella infection.
Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2003;37(1):137-40.
2003: Claire Fieschi; Jean-Laurent Casanova
The role of interleukin-12 in human infectious diseases: only a faint signature.
European journal of immunology 2003;33(6):1461-4.
2003: Sophie Dupuis-Girod; Jacques Medioni; Elie Haddad; Pierre Quartier; Marina Cavazzana-Calvo; Françoise Le Deist; Geneviève de Saint Basile; Jean Delaunay; Klaus Schwarz; Jean-Laurent Casanova; Stéphane Blanche; Alain Fischer
Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients.
Pediatrics 2003;111(5 Pt 1):e622-7.
2003: Ewa Koscielniak; Tjitske de Boer; Stephanie Dupuis; Ludmila Naumann; Jean-Laurent Casanova; Tom H M Ottenhoff
Disseminated Mycobacterium peregrinum infection in a child with complete interferon-gamma receptor-1 deficiency.
The Pediatric infectious disease journal 2003;22(4):378-80.
2003: Capucine Picard; Anne Puel; Marion Bonnet; Cheng-Lung KU; Jacinta Bustamante; Kun Yang; Claire Soudais; Stéphanie Dupuis; Jacqueline Feinberg; Claire Fieschi; Carole Elbim; Remi Hitchcock; David A Lammas; Graham Davies; Abdulaziz Al-Ghonaium; Hassan Al-Rayes; Sulaiman Al-Jumaah; Sami Al-Hajjar; Ibrahim Zaid Al-Mohsen; Husn H Frayha; Rajivi P Rucker; Thomas R Hawn; Alan Aderem; Haysam Tufenkeji; Soichi Haraguchi; Noorbibi K Day; Robert A Good; Marie-Anne Gougerot-Pocidalo; Adrian Ozinsky; Jean-Laurent Casanova
Pyogenic bacterial infections in humans with IRAK-4 deficiency.
Science (New York, N.Y.) 2003;299(5615):2076-9.
2003: Stéphanie Dupuis; Emmanuelle Jouanguy; Sami Al-Hajjar; Claire Fieschi; Ibrahim Zaid Al-Mohsen; Sulaiman Al-Jumaah; Kun Yang; Ariane Chapgier; Céline Eidenschenk; Pierre Eid; Abdulaziz Al-Ghonaium; Haysam Tufenkeji; Husn H Frayha; Suleiman Al-Gazlan; Hassan Al-Rayes; Robert D Schreiber; Ion Gresser; Jean-Laurent Casanova
Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency.
Nature genetics 2003;33(3):388-91.
2003: Despina Moshous; Christophe Pannetier; Régina de Chasseval Rd; Françoise le Deist Fl; Marina Cavazzana-Calvo; Serge Romana; Elizabeth Macintyre; Danielle Canioni; Nicole Brousse; Alain Fischer; Jean-Laurent Casanova; Jean-Pierre de Villartay
Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis.
The Journal of clinical investigation 2003;111(3):381-7.
2003: Pierre Quartier; Olivier Tournilhac; Christine Archimbaud; Leila Lazaro; Carine Chaleteix; Pascale Millet; Hélène Peigue-Lafeuille; Stéphane Blanche; Alain Fischer; Jean-Laurent Casanova; Philippe Travade; Marc Tardieu
Enteroviral meningoencephalitis after anti-CD20 (rituximab) treatment.
Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2003;36(3):e47-9.
2002: Giuliana Losana; Chiara Bovolenta; Laura Rigamonti; Igor Borghi; Frédéric Altare; Emmanuelle Jouanguy; Guido Forni; Jean-Laurent Casanova; Barbara Sherry; Manuela Mengozzi; Trinchieri Giorgio; Guido Poli; Franca Gerosa; Francesco Novelli
IFN-gamma and IL-12 differentially regulate CC-chemokine secretion and CCR5 expression in human T lymphocytes.
Journal of leukocyte biology 2002;72(4):735-42.
2002: Asma Smahi; Gilles Courtois; Smail Hadj Rabia; Rainer Döffinger; Christine Bodemer; Arnold Munnich; Jean-Laurent Casanova; Alain Israël
The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes.
Human molecular genetics 2002;11(20):2371-5.
2002: Jean-Laurent Casanova; Erwin Schurr; Laurent Abel; Emil Skamene
Forward genetics of infectious diseases: immunological impact.
Trends in immunology 2002;23(10):469-72.
2002: Jérôme Feldmann; Françoise Le Deist; Marie Ouachée-Chardin; Stéphanie Certain; Sarah Alexander; Pierre Quartier; Elie Haddad; Nico M Wulffraat; Jean-Laurent Casanova; Stéphane Blanche; Alain Fischer; Geneviève de Saint Basile
Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis.
British journal of haematology 2002;117(4):965-72.
2002: Sophie Dupuis-Girod; Nadège Corradini; Smaïl Hadj-Rabia; Jean-Christophe Fournet; Laurence Faivre; Françoise Le Deist; Philippe Durand; Rainer Döffinger; Asma Smahi; Alain Israel; Gilles Courtois; Nicole Brousse; Stéphane Blanche; Arnold Munnich; Alain Fischer; Jean-Laurent Casanova; Christine Bodemer
Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother.
Pediatrics 2002;109(6):e97.
2002: Rainer Döffinger; Stéphanie Dupuis; Capucine Picard; Claire Fieschi; Jacqueline Feinberg; Gabriela Barcenas-Morales; Jean-Laurent Casanova
Inherited disorders of IL-12- and IFNgamma-mediated immunity: a molecular genetics update.
Molecular immunology 2002;38(12-13):903-9.
2002: Franck Bourdeaut; Pierre Quartier; Groob Alkaer; Alain Fischer; Jean-Laurent Casanova; Stéphane Blanche
Propionibacterium acnes chest infections in patients with chronic granulomatous disease: case reports.
Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2002;34(6):853-4.
2002: Sabine Plancoulaine; A Alcaïs; Laurent Abel; Jean-Laurent Casanova
[Human mycobacterial infections: impact of host genetic factors].
Revue médicale de Liège 2002;57(3):165-70.
2002: Giuliana Losana; Laura Rigamonti; Igor Borghi; Barbara Assenzio; Silvia Ariotti; Emmanuelle Jouanguy; Frédéric Altare; Guido Forni; Jean-Laurent Casanova; Francesco Novelli
Requirement for both IL-12 and IFN-gamma signaling pathways in optimal IFN-gamma production by human T cells.
European journal of immunology 2002;32(3):693-700.
2002: David A Lammas; E De Heer; J David M Edgar; V Novelli; Anne Ben-Smith; R Baretto; Pam Drysdale; J Binch; Calman MacLennan; Dinakantha S Kumararatne; S Panchalingam; Tom H M Ottenhoff; Jean-Laurent Casanova; Jean-François Emile
Heterogeneity in the granulomatous response to mycobacterial infection in patients with defined genetic mutations in the interleukin 12-dependent interferon-gamma production pathway.
International journal of experimental pathology 2002;83(1):1-20.
2002: Capucine Picard; Claire Fieschi; Frédéric Altare; Sulaiman Al-Jumaah; Sami Al-Hajjar; Jacqueline Feinberg; Stéphanie Dupuis; Claire Soudais; Ibrahim Zaid Al-Mohsen; Emmanuelle Génin; David A Lammas; Dinakantha S Kumararatne; Tony Leclerc; Arash Rafii; Husn H Frayha; Belinda Murugasu; Lee Bee Wah; Raja Sinniah; Michael Loubser; Emi Okamoto; Abdulaziz Al-Ghonaium; Haysam Tufenkeji; Laurent Abel; Jean-Laurent Casanova
Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds.
American journal of human genetics 2002;70(2):336-48.
2002: Jean-Laurent Casanova; Laurent Abel
Genetic dissection of immunity to mycobacteria: the human model.
Annual review of immunology 2002;20():581-620.
2001: Janine Reichenbach; S Rosenzweig; Rainer Döffinger; Stéphanie Dupuis; Steven M Holland; Jean-Laurent Casanova
Mycobacterial diseases in primary immunodeficiencies.
Current opinion in allergy and clinical immunology 2001;1(6):503-11.
2001: J David M Edgar; A E Smyth; J Pritchard; David A Lammas; Emmanuelle Jouanguy; R Hague; V Novelli; S Dempsey; L Sweeney; A J Taggart; D O'hara; Jean-Laurent Casanova; Dinakantha S Kumararatne
Interferon-gamma receptor deficiency mimicking Langerhans' cell histiocytosis.
The Journal of pediatrics 2001;139(4):600-3.
2001: Jean-Laurent Casanova
Mendelian susceptibility to mycobacterial infection in man.
Swiss medical weekly 2001;131(31-32):445-54.
2001: Frédéric Altare; A Ensser; Adrien Breiman; Janine Reichenbach; J E Baghdadi; Alain Fischer; Jean-François Emile; Jean-Louis Gaillard; E Meinl; Jean-Laurent Casanova
Interleukin-12 receptor beta1 deficiency in a patient with abdominal tuberculosis.
The Journal of infectious diseases 2001;184(2):231-6.
2001: Stéphanie Dupuis; C Dargemont; Claire Fieschi; N Thomassin; S Rosenzweig; J Harris; Steven M Holland; Robert D Schreiber; Jean-Laurent Casanova
Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation.
Science (New York, N.Y.) 2001;293(5528):300-3.
2001: Natascha Remus; Janine Reichenbach; Capucine Picard; C Rietschel; P Wood; David A Lammas; Dinakantha S Kumararatne; Jean-Laurent Casanova
Impaired interferon gamma-mediated immunity and susceptibility to mycobacterial infection in childhood.
Pediatric research 2001;50(1):8-13.
2001: Guzide Aksu; C Tirpan; C Cavuşoğlu; Saliha Soydan; F Altare; Jean-Laurent Casanova; Necil Kutukculer
Mycobacterium fortuitum-chelonae complex infection in a child with complete interleukin-12 receptor beta 1 deficiency.
The Pediatric infectious disease journal 2001;20(5):551-3.
2001: Claire Fieschi; Stéphanie Dupuis; Capucine Picard; C I Smith; Steven M Holland; Jean-Laurent Casanova
High levels of interferon gamma in the plasma of children with complete interferon gamma receptor deficiency.
Pediatrics 2001;107(4):E48.
2001: A Villella; Capucine Picard; Emmanuelle Jouanguy; Stéphanie Dupuis; S Popko; Nazha Abughali; Howard J Meyerson; Jean-Laurent Casanova; Robert Hostoffer
Recurrent Mycobacterium avium osteomyelitis associated with a novel dominant interferon gamma receptor mutation.
Pediatrics 2001;107(4):E47.
2001: Rainer Döffinger; Asma Smahi; Christine Bessia; Frederic Geissmann; Jacqueline Feinberg; Anne Durandy; Christine Bodemer; Sue Kenwrick; Sophie Dupuis-Girod; Stéphane Blanche; P Wood; S H Rabia; Denis J Headon; Paul A Overbeek; Françoise Le Deist; Steven M Holland; K Belani; Dinakantha S Kumararatne; Alain Fischer; R Shapiro; M E Conley; E Reimund; H Kalhoff; M Abinun; Arnold Munnich; Alain Israël; Gilles Courtois; Jean-Laurent Casanova
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.
Nature genetics 2001;27(3):277-85.
2001: Marina Cavazzana-Calvo; Isabelle André-Schmutz; Salima Hacein-Bey; John Schindler; H Vitetta; Stéphanie Dupuis; Pierre Quartier; Gaëlle Chedeville; Etienne Vilmer; Jean-Laurent Casanova; R Buffet; Sophie Caillat-Zucman; Isabelle Radford; Françoise Le Deist; Alain Fischer
[T-cell-depleted HLA non-identical bone marrow transplantation in the child: prevention of graft-versus-host reaction by administration of donor T lymphocytes alloreactive against the recipient].
Journal de la Société de biologie 2001;195(1):65-8.
2000: Stéphanie Dupuis; Rainer Döffinger; Capucine Picard; Claire Fieschi; Frédéric Altare; Emmanuelle Jouanguy; Laurent Abel; Jean-Laurent Casanova
Human interferon-gamma-mediated immunity is a genetically controlled continuous trait that determines the outcome of mycobacterial invasion.
Immunological reviews 2000;178():129-37.
2000: Rainer Döffinger; Frédéric Altare; Jean-Laurent Casanova
Genetic heterogeneity of Mendelian susceptibility to mycobacterial infection.
Microbes and infection / Institut Pasteur 2000;2(13):1553-7.
2000: Pierre Quartier; S Foray; Jean-Laurent Casanova; I Hau-Rainsard; Stéphane Blanche; Alain Fischer
Enteroviral meningoencephalitis in X-linked agammaglobulinemia: intensive immunoglobulin therapy and sequential viral detection in cerebrospinal fluid by polymerase chain reaction.
The Pediatric infectious disease journal 2000;19(11):1106-8.
2000: D Stefanutti; L Morais; Jean-Christophe Fournet; Dominique M. Jan; Jean-Laurent Casanova; Pierre Scheinmann; Jacques de BLIC
Value of open lung biopsy in immunocompromised children.
The Journal of pediatrics 2000;137(2):165-71.
2000: Emmanuelle Jouanguy; Stéphanie Dupuis; Annaïck Pallier; Rainer Döffinger; Marie-Claude Fondanèche; Claire Fieschi; S Lamhamedi-Cherradi; Frédéric Altare; Jean-François Emile; P Lutz; P Bordigoni; Haluk Cokugras; Necla Akcakaya; J Landman-Parker; J Donnadieu; Yildiz Camcioglu; Jean-Laurent Casanova
In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma.
The Journal of clinical investigation 2000;105(10):1429-36.
2000: Marina Cavazzana-Calvo; Salima Hacein-Bey; Geneviève de Saint Basile; Fabian Gross; E Yvon; P Nusbaum; Françoise Selz; Christophe Hue; Stéphanie Certain; Jean-Laurent Casanova; Philippe Bousso; F L Deist; Alain Fischer
Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease.
Science (New York, N.Y.) 2000;288(5466):669-72.
2000: Jean-Laurent Casanova
[Genetic predisposition to infective diseases in humans. Mendelian predisposition to mycobacterial infections].
Bulletin de l'Académie nationale de médecine 2000;184(7):1409-15; discussion 1415-6.
2000: Jean-Laurent Casanova
[Mendelian predisposition to mycobacterial infections in humans].
Journal de la Société de biologie 2000;194(1):25-8.
2000: Rainer Döffinger; Emmanuelle Jouanguy; Stéphanie Dupuis; Marie-Claude Fondanèche; Jean Louis Stephan; Jean-François Emile; S Lamhamedi-Cherradi; Frédéric Altare; Annaïck Pallier; Gabriela Barcenas-Morales; E Meinl; C Krause; S Pestka; Robert D Schreiber; Francesco Novelli; Jean-Laurent Casanova
Partial interferon-gamma receptor signaling chain deficiency in a patient with bacille Calmette-Guérin and Mycobacterium abscessus infection.
The Journal of infectious diseases 2000;181(1):379-84.
2000: Laura Rigamonti; Silvia Ariotti; Giuliana Losana; Roberto Gradini; M A Russo; Emmanuelle Jouanguy; Jean-Laurent Casanova; Guido Forni; Francesco Novelli
Surface expression of the IFN-gamma R2 chain is regulated by intracellular trafficking in human T lymphocytes.
Journal of immunology (Baltimore, Md. : 1950) 2000;164(1):201-7.
1999: Peisong Gao; Xiao-Quan Mao; Emmanuelle Jouanguy; Annaïck Pallier; Rainer Döffinger; Y Tanaka; H Nakashima; T Otsuka; Mark H Roberts; T Enomoto; Yoshihiro Dake; M Kawai; S Sasaki; stanley shaldon; P Coull; Chaker N Adra; Y Niho; Jean-Laurent Casanova; Taro Shirakawa; Julian M Hopkin
Nonpathogenic common variants of IFNGR1 and IFNGR2 in association with total serum IgE levels.
Biochemical and biophysical research communications 1999;263(2):425-9.
1999: Emmanuelle Jouanguy; Rainer Döffinger; Stéphanie Dupuis; Annaïck Pallier; Frédéric Altare; Jean-Laurent Casanova
IL-12 and IFN-gamma in host defense against mycobacteria and salmonella in mice and men.
Current opinion in immunology 1999;11(3):346-51.
1999: S Lamhamedi-Cherradi; C de Chastellier; Jean-Laurent Casanova
Growth of Mycobacterium bovis, Bacille Calmette-Guérin, within human monocytes-macrophages cultured in serum-free medium.
Journal of immunological methods 1999;225(1-2):75-86.
1999: Pierre Quartier; Marianne Debré; Jacques de BLIC; R de Sauverzac; N Sayegh; Nada Jabado; Elie Haddad; Stéphane Blanche; Jean-Laurent Casanova; C I Smith; Françoise Le Deist; Geneviève de Saint Basile; Alain Fischer
Early and prolonged intravenous immunoglobulin replacement therapy in childhood agammaglobulinemia: a retrospective survey of 31 patients.
The Journal of pediatrics 1999;134(5):589-96.
1999: Emmanuelle Jouanguy; S Lamhamedi-Cherradi; David A Lammas; Susan E Dorman; Marie-Claude Fondanèche; Stéphanie Dupuis; Rainer Döffinger; Frédéric Altare; John Girdlestone; Jean-François Emile; H Ducoulombier; D Edgar; J Clarke; V A Oxelius; M Brai; V Novelli; Klaus Heyne; Alain Fischer; Steven M Holland; Dinakantha S Kumararatne; Robert D Schreiber; Jean-Laurent Casanova
A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection.
Nature genetics 1999;21(4):370-8.
1998: Frédéric Altare; David A Lammas; Patrick Revy; Emmanuelle Jouanguy; Rainer Döffinger; S Lamhamedi; Pam Drysdale; Dagmar Scheel-Toellner; John Girdlestone; P Darbyshire; M Wadhwa; H Dockrell; Mike Salmon; Alain Fischer; Anne Durandy; Jean-Laurent Casanova; Dinakantha S Kumararatne
Inherited interleukin 12 deficiency in a child with bacille Calmette-Guérin and Salmonella enteritidis disseminated infection.
The Journal of clinical investigation 1998;102(12):2035-40.
1998: Nada Jabado; Jean-Laurent Casanova; Elie Haddad; F Dulieu; J C Fournet; Bertrand Dupont; Alain Fischer; Christophe Hennequin; Stéphane Blanche
Invasive pulmonary infection due to Scedosporium apiospermum in two children with chronic granulomatous disease.
Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 1998;27(6):1437-41.
1998: F Bernard; Jean-Laurent Casanova; G Cournot; Nada Jabado; J Peake; Sébastien Jauliac; Alain Fischer; Claire Hivroz
The protein tyrosine kinase p60c-Src is not implicated in the pathogenesis of the human autosomal recessive form of osteopetrosis: a study of 13 children.
The Journal of pediatrics 1998;133(4):537-43.
1998: Frédéric Altare; Emmanuelle Jouanguy; S Lamhamedi; Rainer Döffinger; Alain Fischer; Jean-Laurent Casanova
Mendelian susceptibility to mycobacterial infection in man.
Current opinion in immunology 1998;10(4):413-7.
1998: Frédéric Altare; Anne Durandy; David A Lammas; Jean-François Emile; S Lamhamedi; Françoise Le Deist; Pam Drysdale; Emmanuelle Jouanguy; Rainer Döffinger; Françoise Bernaudin; O Jeppsson; Jared A Gollob; E Meinl; A W Segal; Alain Fischer; Dinakantha S Kumararatne; Jean-Laurent Casanova
Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency.
Science (New York, N.Y.) 1998;280(5368):1432-5.
1998: Marie-Claude Fondaneche; Jean Villard; Wojciech Wiszniewski; Emmanuelle Jouanguy; A Etzioni; Françoise Le Deist; Ad Peijnenburg; Jean-Laurent Casanova; Walter Reith; Bernard Mach; Alain Fischer; Barbara Lisowska-Grospierre
Genetic and molecular definition of complementation group D in MHC class II deficiency.
Human molecular genetics 1998;7(5):879-85.
1998: N Aladjidi; Jean-Laurent Casanova; Danielle Canioni; Françoise Valensi; N Brousse; Stéphane Blanche; Alain Fischer
Severe aplastic anemia of neonatal onset: a single-center retrospective study of six children.
The Journal of pediatrics 1998;132(4):600-5.
1998: Frédéric Altare; Emmanuelle Jouanguy; S Lamhamedi-Cherradi; M C Fondanéche; C Fizame; F Ribiérre; G Merlin; Z Dembic; R Schreiber; Barbara Lisowska-Grospierre; Alain Fischer; E Seboun; Jean-Laurent Casanova
A causative relationship between mutant IFNgR1 alleles and impaired cellular response to IFNgamma in a compound heterozygous child.
American journal of human genetics 1998;62(3):723-6.
1998: S Lamhamedi; Emmanuelle Jouanguy; Frédéric Altare; Joachim Roesler; Jean-Laurent Casanova
Interferon-gamma receptor deficiency: relationship between genotype, environment, and phenotype (Review).
International journal of molecular medicine 1998;1(2):415-8.
1998: Alain Fischer; Elie Haddad; Nada Jabado; Jean-Laurent Casanova; Stéphane Blanche; Françoise Le Deist; Marina Cavazzana-Calvo
Stem cell transplantation for immunodeficiency.
Springer seminars in immunopathology 1998;19(4):479-92.
1997: Emmanuelle Jouanguy; S Lamhamedi-Cherradi; Frédéric Altare; Marie-Claude Fondanèche; D Tuerlinckx; Stéphane Blanche; Jean-François Emile; Jean-Louis Gaillard; R Schreiber; M Levin; Alain Fischer; Claire Hivroz; Jean-Laurent Casanova
Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guérin infection and a sibling with clinical tuberculosis.
The Journal of clinical investigation 1997;100(11):2658-64.
1997: Emmanuelle Jouanguy; Frédéric Altare; S Lamhamedi-Cherradi; Jean-Laurent Casanova
Infections in IFNGR-1-deficient children.
Journal of interferon & cytokine research : the official journal of the International Society for Interferon and Cytokine Research 1997;17(10):583-7.
1997: Catherine Pierre-Audigier; Emmanuelle Jouanguy; S Lamhamedi; Frédéric Altare; J Rauzier; Véronique Vincent; D Canioni; Jean-François Emile; Alain Fischer; Stéphane Blanche; Jean-Louis Gaillard; Jean-Laurent Casanova
Fatal disseminated Mycobacterium smegmatis infection in a child with inherited interferon gamma receptor deficiency.
Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 1997;24(5):982-4.
1997: Jean-François Emile; Natacha Patey; Frédéric Altare; S Lamhamedi; Emmanuelle Jouanguy; Françoise Boman; J Quillard; M Lecomte-Houcke; Olivier Verola; J F Mousnier; Frédérique Dijoud; Stéphane Blanche; Alain Fischer; Nicole Brousse; Jean-Laurent Casanova
Correlation of granuloma structure with clinical outcome defines two types of idiopathic disseminated BCG infection.
The Journal of pathology 1997;181(1):25-30.
1996: Emmanuelle Jouanguy; Frédéric Altare; S Lamhamedi; Patrick Revy; Jean-François Emile; M Newport; M Levin; Stéphane Blanche; E Seboun; Alain Fischer; Jean-Laurent Casanova
Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guérin infection.
The New England journal of medicine 1996;335(26):1956-61.
1996: Jean-Laurent Casanova; Stéphane Blanche; Jean-François Emile; Emmanuelle Jouanguy; S Lamhamedi; Frédéric Altare; Jean-Louis Stéphan; Françoise Bernaudin; P Bordigoni; D Turck; A Lachaux; M Albertini; A Bourrillon; J P Dommergues; M A Pocidalo; Françoise Le Deist; Jean-Louis Gaillard; C Griscelli; Alain Fischer
Idiopathic disseminated bacillus Calmette-Guérin infection: a French national retrospective study.
Pediatrics 1996;98(4 Pt 1):774-8.
1995: Jean-Laurent Casanova; Emmanuelle Jouanguy; S Lamhamedi; Stéphane Blanche; Alain Fischer
Immunological conditions of children with BCG disseminated infection.
Lancet 1995;346(8974):581.
1993: Jean-Laurent Casanova; J L Maryanski
Antigen-selected T-cell receptor diversity and self-nonself homology.
Immunology today 1993;14(8):391-4.
1993: H Robson MacDonald; Jean-Laurent Casanova; J L Maryanski; Jean-Charles Cerottini
Oligoclonal expansion of major histocompatibility complex class I-restricted cytolytic T lymphocytes during a primary immune response in vivo: direct monitoring by flow cytometry and polymerase chain reaction.
The Journal of experimental medicine 1993;177(5):1487-92.
1993: P Romero; Jean-Laurent Casanova; Jean-Charles Cerottini; J L Maryanski; Immanuel F Luescher
Differential T cell receptor photoaffinity labeling among H-2Kd restricted cytotoxic T lymphocyte clones specific for a photoreactive peptide derivative. Labeling of the alpha-chain correlates with J alpha segment usage.
The Journal of experimental medicine 1993;177(5):1247-56.
1993: David M Ojcius; F Godeau; Jean-Pierre Abastado; Jean-Laurent Casanova; Philippe Kourilsky
Real-time measurement of antigenic peptide binding to empty and preloaded single-chain major histocompatibility complex class I molecules.
European journal of immunology 1993;23(5):1118-24.
1993: J L Maryanski; R Lüthy; Pedro Romero; F Healy; C Drouet; Jean-Laurent Casanova; C Jaulin; Philippe Kourilsky; Giampietro Corradin
The interaction of antigenic peptides with the H-2Kd MHC class I molecule.
Seminars in immunology 1993;5(2):95-104.
1993: Jean-Laurent Casanova; F Martinon; H Gournier; C Barra; C Pannetier; A Regnault; Philippe Kourilsky; Jean-Charles Cerottini; J L Maryanski
T cell receptor selection by and recognition of two class I major histocompatibility complex-restricted antigenic peptides that differ at a single position.
The Journal of experimental medicine 1993;177(3):811-20.
1992: C Jaulin; Jean-Laurent Casanova; Pedro Romero; Immanuel F Luescher; A S Cordey; J L Maryanski; Philippe Kourilsky
Highly diverse T cell recognition of a single Plasmodium berghei peptide presented by a series of mutant H-2Kd molecules.
Journal of immunology (Baltimore, Md. : 1950) 1992;149(12):3990-4.
1992: Jean-Laurent Casanova; Jean-Charles Cerottini; M Matthes; A Necker; H Gournier; C Barra; C Widmann; H Robson MacDonald; F Lemonnier; Bernard Malissen; J L Maryanski
H-2-restricted cytolytic T lymphocytes specific for HLA display T cell receptors of limited diversity.
The Journal of experimental medicine 1992;176(2):439-47.
1992: C Jaulin; Pedro Romero; Immanuel F Luescher; Jean-Laurent Casanova; Ada Prochnicka-Chalufour; Pierre Langlade-Demoyen; J L Maryanski; Philippe Kourilsky
Most residues on the floor of the antigen binding site of the class I MHC molecule H-2Kd influence peptide presentation.
International immunology 1992;4(8):945-53.
1992: Pedro Romero; G Eberl; Jean-Laurent Casanova; A S Cordey; C Widmann; Immanuel F Luescher; Giampietro Corradin; J L Maryanski
Immunization with synthetic peptides containing a defined malaria epitope induces a highly diverse cytotoxic T lymphocyte response. Evidence that two peptide residues are buried in the MHC molecule.
Journal of immunology (Baltimore, Md. : 1950) 1992;148(6):1871-8.
1992: F Godeau; Jean-Laurent Casanova; Immanuel F Luescher; Karen D Fairchild; Christiane Delarbre; C Saucier; Gabriel Gachelin; Philippe Kourilsky
Binding of low concentration of peptide to H-2Kd produced in insect cells requires mouse beta 2-microglobulin co-expression.
International immunology 1992;4(2):265-75.
1992: Philippe Kourilsky; Jean-Laurent Casanova; Ricardo Cibotti; C Jaulin
The T cell repertoire in response to foreign and self-antigens.
Comptes rendus de l'Académie des sciences. Série III, Sciences de la vie 1992;314(9 Suppl):31-4.
1991: Jean-Laurent Casanova; Pedro Romero; C Widmann; Philippe Kourilsky; J L Maryanski
T cell receptor genes in a series of class I major histocompatibility complex-restricted cytotoxic T lymphocyte clones specific for a Plasmodium berghei nonapeptide: implications for T cell allelic exclusion and antigen-specific repertoire.
The Journal of experimental medicine 1991;174(6):1371-83.
1991: Ada Prochnicka-Chalufour; Jean-Laurent Casanova; Stratis Avrameas; J M Claverie; Philippe Kourilsky
Biased amino acid distributions in regions of the T cell receptors and MHC molecules potentially involved in their association.
International immunology 1991;3(9):853-64.
1991: F Godeau; Jean-Laurent Casanova; Karen D Fairchild; C Saucier; Christiane Delarbre; Gabriel Gachelin; Philippe Kourilsky
Expression and characterization of recombinant mouse beta 2-microglobulin type a in insect cells infected with recombinant baculoviruses.
Research in immunology 1991;142(5-6):409-16.
1990: Jean-Laurent Casanova; C Pannetier; C Jaulin; Philippe Kourilsky
Optimal conditions for directly sequencing double-stranded PCR products with sequenase.
Nucleic acids research 1990;18(13):4028.
1989: Ada Prochnicka-Chalufour; Jean-Laurent Casanova; Philippe Kourilsky; J M Claverie
Extensive structural homology between H-2 K/D/L antigens and non-polymorphic class I Qa, Tla and "37" molecules suggests they may act as peptide carriers.
Research in immunology 1989;140(2):133-44.