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Luigi Notarangelo

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Luigi D Notarangelo
Into the wild-The use and abuse of stem cells in clinical practice.
Luigi D Notarangelo
Partial defects of T-cell development associated with poor T-cell function.
Alessandra Pangrazio; Jamal Raza; Andrea Sbardellati; Claire Schlack; Ansgar Schulz; Gabriele Strauss; Lucia Susani; Olivier M Vanakker; Ashok Vellodi; Paolo Vezzoni; Anna Villa; Canan Albayrak; Davut Albayrak; Elena Caldana; Barbara De Moerloose; Anders Fasth; Kimberly A Kasow; Uwe Kornak; Jörn-Sven Kühl; Nadia Lo Iacono; Luigi D Notarangelo; Paul J Orchard; Cristina Sobacchi
SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity.

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All Publications

2013: Luigi D Notarangelo
Into the wild-The use and abuse of stem cells in clinical practice.
American journal of hematology 2013;88(6):447-8.
2013: Luigi D Notarangelo
Partial defects of T-cell development associated with poor T-cell function.
The Journal of allergy and clinical immunology 2013;131(5):1297-305.
2013: Alessandra Pangrazio; Jamal Raza; Andrea Sbardellati; Claire Schlack; Ansgar Schulz; Gabriele Strauss; Lucia Susani; Olivier M Vanakker; Ashok Vellodi; Paolo Vezzoni; Anna Villa; Canan Albayrak; Davut Albayrak; Elena Caldana; Barbara De Moerloose; Anders Fasth; Kimberly A Kasow; Uwe Kornak; Jörn-Sven Kühl; Nadia Lo Iacono; Luigi D Notarangelo; Paul J Orchard; Cristina Sobacchi
SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2013;28(5):1041-9.
2013: Roshini S Abraham; Francesco Frugoni; Silvia Giliani; Salman Kirmani; Yu-Nee Lee; Daniel E Maddox; Mike Recher; Jolan E Walter; Luigi D Notarangelo
Adult-onset manifestation of idiopathic T-cell lymphopenia due to a heterozygous RAG1 mutation.
The Journal of allergy and clinical immunology 2013;131(5):1421-3.
2013: Federica Cattaneo; Hermann Eibel; Claudia Fiorini; Silvia Giliani; Stefania Masneri; Luigi D Notarangelo; Francesca Antonelli; Sachin N Baxi; Francisco A Bonilla; Jose G Calderon; Mike Recher; Angela R Smith; Erdyni Tsitsikov; Christian A Wysocki; Sung-Yun Pai
Hypomorphic Janus kinase 3 mutations result in a spectrum of immune defects, including partial maternal T-cell engraftment.
The Journal of allergy and clinical immunology 2013;131(4):1136-45.
2013: Waleed Al-Herz; Osama Alsmadi; Francesco Frugoni; Motasem Melhem; Mike Recher; Luigi D Notarangelo
Major histocompatibility complex class II deficiency in Kuwait: clinical manifestations, immunological findings and molecular profile.
Journal of clinical immunology 2013;33(3):513-9.
2013: Lauren A Henderson; Gregory Hopkins; Luigi D Notarangelo; Waleed Al-Herz; Francisco A Bonilla; Anne Marie Comeau; Francesco Frugoni; Katja Weinacht; Sung-Yun Pai
First reported case of Omenn syndrome in a patient with reticular dysgenesis.
The Journal of allergy and clinical immunology 2013;131(4):1227-30, 1230.e1-3.
2013: Javier Chinen; Luigi D Notarangelo; William T Shearer
Advances in basic and clinical immunology in 2012.
The Journal of allergy and clinical immunology 2013;131(3):675-82.
2013: Luigi D Notarangelo
In Wiskott-Aldrich syndrome, platelet count matters.
Blood 2013;121(9):1484-5.
2013: Mike Recher; Michela Rizzini; Dale T Umetsu; Jolan E Walter; Hermann Eibel; Ari J Fried; Francesco Frugoni; Silvia Giliani; Christoph Hess; Hye Young Kim; Michel J Massaad; Divij Mathew; Luigi D Notarangelo; Raif S Geha
Intronic SH2D1A mutation with impaired SAP expression and agammaglobulinemia.
Clinical immunology (Orlando, Fla.) 2013;146(2):84-9.
2013: Pietro Luigi Poliani; Chaim M Roifman; Elena Fontana; Luigi D Notarangelo
ζ Chain-associated protein of 70 kDa (ZAP70) deficiency in human subjects is associated with abnormalities of thymic stromal cells: Implications for T-cell tolerance.
The Journal of allergy and clinical immunology 2013;131(2):597-600.e1-2.
2013: Nima Rezaei; Luigi D Notarangelo
Hematopoietic stem cell transplantation for hyper-IgM syndromes.
Pediatric transplantation 2013;17(1):1-2.
2013: Luigi D Notarangelo
Functional T cell immunodeficiencies (with T cells present).
Annual review of immunology 2013;31():195-225.
2012: Janet Chou; Ghassan Dbaibo; David Fraulino; Raif S Geha; Soha Ghanem; Silvia Giliani; Rima Hanna-Wakim; Adlette Inati; Jennifer Kane; Yu-Nee Lee; Gérard Lefranc; Iman Mahfouz; André Mégarbané; Luigi D Notarangelo; Irit Tirosh; Michel J Massaad
A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome.
The Journal of allergy and clinical immunology 2012;130(6):1414-6.
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: Waleed Al-Herz; Luigi D Notarangelo
Classification of primary immunodeficiency disorders: one-fits-all does not help anymore.
Clinical immunology (Orlando, Fla.) 2012;144(1):24-5.
2012: Donald B Bloch; Rita Nobre; Luigi D Notarangelo; Waleed Al-Herz; Andrea U Steinbicker; Mike Recher
Decreased IL-10 production by EBV-transformed B cells from patients with VODI: implications for the pathogenesis of Crohn disease.
The Journal of allergy and clinical immunology 2012;129(6):1678-80.
2012: Lisa S Westerberg; Cox Terhorst; Frederick W Alt; Marisa Baptista; Carin Dahlberg; Cynthia Detre; Michelle A Eston; Marton Keszei; Christopher J Moran; Luigi D Notarangelo; Scott B Snapper
Wiskott-Aldrich syndrome protein (WASP) and N-WASP are critical for peripheral B-cell development and function.
Blood 2012;119(17):3966-74.
2012: Jean-Laurent Casanova; Steven M Holland; Luigi D Notarangelo
Inborn errors of human JAKs and STATs.
Immunity 2012;36(4):515-28.
2012: Gaetana Lanzi; Silvana Martino; Stefania Masneri; Michel J Massaad; Cinzia Mazza; Davide Montin; Daniele Moratto; Luigi D Notarangelo; Tiziana Paganini; Silvia Parolini; Itai Pessach; Alessandro Plebani; Fulvio Porta; Narayanaswamy Ramesh; Gianfranco Savoldi; Giovanna Tabellini; Pierangelo Tovo; Donatella Vairo; Ottavia Delmonte; Raif S Geha; Silvia Giliani
A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP.
The Journal of experimental medicine 2012;209(1):29-34.
2011: Itai M Pessach; Luigi D Notarangelo
Primary immunodeficiency modeling with induced pluripotent stem cells.
Current opinion in allergy and clinical immunology 2011;11(6):505-11.
2011: Luigi D Notarangelo
Regulatory T-like cells: another variation on the theme of hypomorphic mutations?
Clinical immunology (Orlando, Fla.) 2011;141(3):242-3.
2011: Vicki Modell; Luigi D Notarangelo; Jordan S Orange; Chaim M Roifman; John M Routes; Ricardo U Sorensen; Bonnie Gee; David B Lewis; Fred Modell
Global study of primary immunodeficiency diseases (PI)--diagnosis, treatment, and economic impact: an updated report from the Jeffrey Modell Foundation.
Immunologic research 2011;51(1):61-70.
2011: Donatella Vairo; Flavia Bazzoni; Sara Gasperini; Silvia Giliani; Luigi D Notarangelo; Silvia Parolini; Alessandro Plebani; Fulvio Porta; Giovanna Tabellini; Nicola Tamassia; Laura Tassone; Raffaele Badolato
Severe impairment of IFN-γ and IFN-α responses in cells of a patient with a novel STAT1 splicing mutation.
Blood 2011;118(7):1806-17.
2011: Greta Meyers; Yen-Shing Ng; Luigi D Notarangelo; Frédéric Rieux-Laucat; Jolan E Walter; Guzide Aksu; Jason M Bannock; Mary Ellen Conley; Charlotte Cunningham-Rundles; Marianne Debré; Anne Durandy; Sara S Kilic; Aubert Lavoie; Eric Meffre
Activation-induced cytidine deaminase (AID) is required for B-cell tolerance in humans.
Proceedings of the National Academy of Sciences of the United States of America 2011;108(28):11554-9.
2011: Miguel A de la Fuente; Erwin W Gelfand; Silvia Giliani; Alejandra King; D Holmes Morton; Hans D Ochs; Sung-Yun Pai; Itai Pessach; Mike Recher; Nicholas L Rider; Kevin A Strauss; Jolan E Walter; Margaret Adair; Francisco A Bonilla; Luigi D Notarangelo
Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia.
The Journal of allergy and clinical immunology 2011;128(1):139-46.
2011: Itai Pessach; Luigi D Notarangelo
Gene therapy for primary immunodeficiencies: looking ahead, toward gene correction.
The Journal of allergy and clinical immunology 2011;127(6):1344-50.
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: Luigi D Notarangelo
Correcting CGD safely, iPSo facto.
Blood 2011;117(21):5554-6.
2011: Ivonne Sponzilli; Luigi D Notarangelo
Severe combined immunodeficiency (SCID): from molecular basis to clinical management.
Acta bio-medica : Atenei Parmensis 2011;82(1):5-13.
2011: Michel J Massaad; Narayanaswamy Ramesh; Severine Le Bras; Silvia Giliani; Luigi D Notarangelo; Waleed Al-Herz; Luigi D Notarangelo; Raif S Geha
A peptide derived from the Wiskott-Aldrich syndrome (WAS) protein-interacting protein (WIP) restores WAS protein level and actin cytoskeleton reorganization in lymphocytes from patients with WAS mutations that disrupt WIP binding.
The Journal of allergy and clinical immunology 2011;127(4):998-1005.e1-2.
2011: Cinzia Mazza; Fabio Buzi; Federica Ortolani; Alberto Vitali; Luigi D Notarangelo; Giovanna Weber; Rosa Bacchetta; Annarosa Soresina; Vassilios Lougaris; Nella A Greggio; Andrea Taddio; Srdjan Pasic; Monique De Vroede; Malgorzata Pac; Sara Sebnem Kilic; Sanal Ozden; Roberto Rusconi; Silvana Martino; Donatella Capalbo; Mariacarolina Salerno; Claudio Pignata; Giorgio Radetti; GIUSEPPE MAGGIORE; Alessandro Plebani; Luigi D Notarangelo; Raffaele Badolato
Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome.
Clinical immunology (Orlando, Fla.) 2011;139(1):6-11.
2011: Waleed Al-Herz; Kamal K Naguib; Luigi D Notarangelo; Raif S Geha; Amal Alwadaani
Parental consanguinity and the risk of primary immunodeficiency disorders: report from the Kuwait National Primary Immunodeficiency Disorders Registry.
International archives of allergy and immunology 2011;154(1):76-80.
2010: Jaime E Hale; Francisco A Bonilla; Sung-Yun Pai; Jacalyn L Gerstel-Thompson; Luigi D Notarangelo; Roger B Eaton; Anne Marie Comeau
Identification of an infant with severe combined immunodeficiency by newborn screening.
The Journal of allergy and clinical immunology 2010;126(5):1073-4.
2010: Anne Marie Comeau; Jaime E Hale; Sung-Yun Pai; Francisco A Bonilla; Luigi D Notarangelo; Mark S Pasternack; H Cody Meissner; Ellen Rae Cooper; Alfred DeMaria; Inderneel Sahai; Roger B Eaton
Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency.
Journal of inherited metabolic disease 2010;33(Suppl 2):S273-81.
2010: Andrew R Gennery; Mary A Slatter; Laure Grandin; Pierre Taupin; Andrew J Cant; Paul Veys; Persis J Amrolia; H Bobby Gaspar; E Graham Davies; Wilhelm Friedrich; Manfred Hoenig; Luigi D Notarangelo; Evelina Mazzolari; Fulvio Porta; Robbert G M Bredius; Arjan C Lankester; Nico M Wulffraat; Reinhard Seger; Tayfun Güngör; Anders Fasth; Petr Sedlacek; Benedicte Neven; Stephane Blanche; Alain Fischer; Marina Cavazzana-Calvo; Paul Landais
Transplantation of hematopoietic stem cells and long-term survival for primary immunodeficiencies in Europe: entering a new century, do we do better?
The Journal of allergy and clinical immunology 2010;126(3):602-10.e1-11.
2010: Luigi D Notarangelo
PIDs and cancer: an evolving story.
Blood 2010;116(8):1189-90.
2010: Suk See De Ravin; Edward W Cowen; Kol A Zarember; Narda L Whiting-Theobald; Douglas B Kuhns; Netanya G Sandler; Daniel C Douek; Stefania Pittaluga; Pietro L Poliani; Yu-Nee Lee; Luigi D Notarangelo; Lei Wang; Frederick W Alt; Elizabeth M Kang; Joshua D Milner; Julie E Niemela; Mary Fontana-Penn; Sara H Sinal; Harry L Malech
Hypomorphic Rag mutations can cause destructive midline granulomatous disease.
Blood 2010;116(8):1263-71.
2010: Victoria Bordon; Andrew R Gennery; Mary A Slatter; Els Vandecruys; Geneviève Laureys; Paul Veys; Waseem Qasim; Qasim Waseem; Wilhelm Friedrich; Nico M Wulfraat; Franziska Scherer; Andrew J Cant; Alain Fischer; Marina Cavazzana-Calvo; Marina Cavazanna-Calvo; Robbert G M Bredius; Luigi D Notarangelo; Evelina Mazzolari; Bénédicte Neven; Tayfun Güngör; Güngör Tayfun
Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation.
Blood 2010;116(1):27-35.
2010: Chaim M Roifman; Alain Fischer; Luigi D Notarangelo; M Teresa de la Morena; Reinhard A Seger
Indications for hemopoietic stem cell transplantation.
Immunology and allergy clinics of North America 2010;30(2):261-2.
2010: Sung-Yun Pai; Luigi D Notarangelo
Hematopoietic cell transplantation for Wiskott-Aldrich syndrome: advances in biology and future directions for treatment.
Immunology and allergy clinics of North America 2010;30(2):179-94.
2010: Helena Stabile; Claudia Carlino; Cinzia Mazza; Silvia Giliani; Stefania Morrone; Luigi D Notarangelo; Luigi D Notarangelo; Angela Santoni; Angela Gismondi
Impaired NK-cell migration in WAS/XLT patients: role of Cdc42/WASp pathway in the control of chemokine-induced beta2 integrin high-affinity state.
Blood 2010;115(14):2818-26.
2010: Francesca Rucci; Luigi D Notarangelo; Alex Fazeli; Laura Patrizi; Thomas Hickernell; Tiziana Paganini; Kristen M Coakley; Cynthia Detre; Marton Keszei; Jolan E Walter; Lauren Feldman; Hwei-Ling Cheng; Pietro Luigi Poliani; Jing H Wang; Barbara B Balter; Mike Recher; Emma-Maria Andersson; Shan Zha; Silvia Giliani; Cox Terhorst; Frederick W Alt; Catherine T Yan
Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome.
Proceedings of the National Academy of Sciences of the United States of America 2010;107(7):3024-9.
2010: Luigi D Notarangelo
Primary immunodeficiencies.
The Journal of allergy and clinical immunology 2010;125(2 Suppl 2):S182-94.
2010: Barbara Cassani; Pietro Luigi Poliani; Daniele Moratto; Cristina Sobacchi; Veronica Marrella; Laura Imperatori; Donatella Vairo; Alessandro Plebani; Silvia Giliani; Paolo Vezzoni; Fabio Facchetti; Fulvio Porta; Luigi D Notarangelo; Anna Villa; Raffaele Badolato
Defect of regulatory T cells in patients with Omenn syndrome.
The Journal of allergy and clinical immunology 2010;125(1):209-16.
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: Linda M Griffith; Morton J Cowan; Luigi D Notarangelo; Jennifer M Puck; Rebecca H Buckley; Fabio Candotti; Mary Ellen Conley; Thomas A Fleisher; H Bobby Gaspar; Donald B Kohn; Hans D Ochs; Richard J O'Reilly; J Douglas Rizzo; Chaim M Roifman; Trudy N Small; William T Shearer
Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management.
The Journal of allergy and clinical immunology 2009;124(6):1152-60.e12.
2009: Maurilia Fiorini; Giovanna Piovani; Richard F Schumacher; Chiara Magri; Valeria Bertini; Evelina Mazzolari; Lucia Notarangelo; Luigi D Notarangelo; Sergio Barlati
ITGB2 mutation combined with deleted ring 21 chromosome in a child with leukocyte adhesion deficiency.
The Journal of allergy and clinical immunology 2009;124(6):1356-8.
2009: Arturo Borzutzky; Brian Crompton; Anke K Bergmann; Silvia Giliani; Sachin Baxi; Madelena Martin; Ellis J Neufeld; Luigi D Notarangelo
Reversible severe combined immunodeficiency phenotype secondary to a mutation of the proton-coupled folate transporter.
Clinical immunology (Orlando, Fla.) 2009;133(3):287-94.
2009: H Bobby Gaspar; Alessandro Aiuti; Fulvio Porta; Fabio Candotti; Michael S Hershfield; Luigi D Notarangelo
How I treat ADA deficiency.
Blood 2009;114(17):3524-32.
2009: Luigi D Notarangelo; Jean-Laurent Casanova
Primary immunodeficiencies: increasing market share.
Current opinion in immunology 2009;21(5):461-5.
2009: Itai M Pessach; Luigi D Notarangelo
X-linked primary immunodeficiencies as a bridge to better understanding X-chromosome related autoimmunity.
Journal of autoimmunity 2009;33(1):17-24.
2009: Pietro Luigi Poliani; Fabio Facchetti; Maria Ravanini; Andrew Richard Gennery; Anna Villa; Chaim M Roifman; Luigi D Notarangelo
Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn syndrome.
Blood 2009;114(1):105-8.
2009: Laura Tassone; Lucia D Notarangelo; Vanessa Bonomi; Gianfranco Savoldi; Alberto Sensi; Annarosa Soresina; C I Edvard Smith; Fulvio Porta; Alessandro Plebani; Luigi D Notarangelo; Raffaele Badolato
Clinical and genetic diagnosis of warts, hypogammaglobulinemia, infections, and myelokathexis syndrome in 10 patients.
The Journal of allergy and clinical immunology 2009;123(5):1170-3, 1173.e1-3.
2009: Itai Pessach; Jolan Walter; Luigi D Notarangelo
Recent advances in primary immunodeficiencies: identification of novel genetic defects and unanticipated phenotypes.
Pediatric research 2009;65(5 Pt 2):3R-12R.
2009: William J Sheehan; Ottavia M Delmonte; David T Miller; Amy E Roberts; Francisco A Bonilla; Massimo Morra; Silvia Giliani; Sung-Yun Pai; Luigi D Notarangelo; Hans C Oettgen
Novel presentation of Omenn syndrome in association with aniridia.
The Journal of allergy and clinical immunology 2009;123(4):966-9.
2009: Luigi D Notarangelo; Raffaele Badolato
Leukocyte trafficking in primary immunodeficiencies.
Journal of leukocyte biology 2009;85(3):335-43.
2009: Luigi D Notarangelo
Primary immunodeficiencies (PIDs) presenting with cytopenias.
Hematology / the Education Program of the American Society of Hematology. American Society of Hematology. Education Program 2009;():139-43.
2009: Evelina Mazzolari; Donatella de Martiis; Concetta Forino; Arnalda Lanfranchi; Silvia Giliani; Roberto Marzollo; Paolo Airò; Luisa Imberti; Fulvio Porta; Luigi D Notarangelo
Single-center analysis of long-term outcome after hematopoietic cell transplantation in children with congenital severe T cell immunodeficiency.
Immunologic research 2009;44(1-3):4-17.
2008: Luigi D Notarangelo; Chaim M Roifman; Silvia Giliani
Cartilage-hair hypoplasia: molecular basis and heterogeneity of the immunological phenotype.
Current opinion in allergy and clinical immunology 2008;8(6):534-9.
2008: Joao B Oliveira; Luigi D Notarangelo; Thomas A Fleisher
Applications of flow cytometry for the study of primary immune deficiencies.
Current opinion in allergy and clinical immunology 2008;8(6):499-509.
2008: Luigi D Notarangelo; Itai Pessach
Out of breath: GM-CSFRalpha mutations disrupt surfactant homeostasis.
The Journal of experimental medicine 2008;205(12):2693-7.
2008: Lisa S Westerberg; Miguel A de la Fuente; Fredrik Wermeling; Hans D Ochs; Mikael C I Karlsson; Scott B Snapper; Luigi D Notarangelo
WASP confers selective advantage for specific hematopoietic cell populations and serves a unique role in marginal zone B-cell homeostasis and function.
Blood 2008;112(10):4139-47.
2008: Chaim M Roifman; Melvin Berger; Luigi D Notarangelo
Management of primary antibody deficiency with replacement therapy: summary of guidelines.
Immunology and allergy clinics of North America 2008;28(4):875-6, x.
2008: Thomas A Fleisher; Luigi D Notarangelo
What does it take to call it a pathogenic mutation?
Clinical immunology (Orlando, Fla.) 2008;128(3):285-6.
2008: Matteo M Guerrini; Cristina Sobacchi; Barbara Cassani; Mario Abinun; Sara S Kilic; Alessandra Pangrazio; Daniele Moratto; Evelina Mazzolari; Jill Clayton-Smith; Paul Orchard; Fraser Coxon; Miep H Helfrich; Julie Crockett; David Mellis; Ashok Vellodi; Ilhan Tezcan; Luigi D Notarangelo; Michael J Rogers; Paolo Vezzoni; Anna Villa; Annalisa Frattini
Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations.
American journal of human genetics 2008;83(1):64-76.
2008: Alessandra Santoro; Sonia Cannella; Antonino Trizzino; Giuseppa Bruno; Carmen De Fusco; Luigi D Notarangelo; Daniela Pende; Gillian M Griffiths; Maurizio Aricò
Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3.
Haematologica 2008;93(7):1086-90.
2008: Anna Villa; Veronica Marrella; Francesca Rucci; Luigi D Notarangelo
Genetically determined lymphopenia and autoimmune manifestations.
Current opinion in immunology 2008;20(3):318-24.
2008: Baldassarre Martire; Roberto Rondelli; Annarosa Soresina; Claudio Pignata; Teresa Broccoletti; Andrea Finocchi; Paolo Rossi; Marco Gattorno; Marco Rabusin; Chiara Azzari; Rosa Dellepiane; Maria Chiara Pietrogrande; Antonino Trizzino; Paolo Di Bartolomeo; Silvana Martino; Luigi Carpino; Fausto Cossu; Franco Locatelli; Rita Maccario; Paolo Pierani; Maria C Putti; Achille Stabile; Luigi D Notarangelo; Alberto G Ugazio; Alessandro Plebani; Domenico De Mattia
Clinical features, long-term follow-up and outcome of a large cohort of patients with Chronic Granulomatous Disease: an Italian multicenter study.
Clinical immunology (Orlando, Fla.) 2008;126(2):155-64.
2008: Luigi D Notarangelo; David J Rawlings; Kathleen E Sullivan
An exemplum of XLA.
Clinical immunology (Orlando, Fla.) 2008;126(2):137-9.
2008: Donn M Stewart; Lan Tian; Luigi D Notarangelo; David L Nelson
X-linked hypogammaglobulinemia and isolated growth hormone deficiency: an update.
Immunologic research 2008;40(3):262-70.
2008: Luigi D Notarangelo; Carol H Miao; Hans D Ochs
Wiskott-Aldrich syndrome.
Current opinion in hematology 2008;15(1):30-6.
2008: Hulya Ozsahin; Marina Cavazzana-Calvo; Luigi D Notarangelo; Ansgar Schulz; Adrian J Thrasher; Evelina Mazzolari; Mary A Slatter; Françoise Le Deist; Stephane Blanche; Paul Veys; Anders Fasth; R G M Bredius; Petr Sedlacek; Nico M Wulffraat; Juan Ortega; Carsten Heilmann; Anne O'Meara; Jacek Wachowiak; Krzysztof Kalwak; Susanne Matthes-Martin; Tayfun Gungor; Aydan Ikinciogullari; Paul Landais; Andrew J Cant; Wilhelm Friedrich; Alain Fischer
Long-term outcome following hematopoietic stem-cell transplantation in Wiskott-Aldrich syndrome: collaborative study of the European Society for Immunodeficiencies and European Group for Blood and Marrow Transplantation.
Blood 2008;111(1):439-45.
2008: Ponpan Matangkasombut; Muriel Pichavant; Doris E Saez; Silvia Giliani; Evelina Mazzolari; Andrea Finocchi; Anna Villa; Cristina Sobacchi; Patricia Cortes; Dale T Umetsu; Luigi D Notarangelo
Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutations.
Blood 2008;111(1):271-4.
2008: Melinda Erdos; Gabriella Lakos; Beáta Dérfalvi; Luigi D Notarangelo; Anne Durandy; László Maródi
Molecular genetic analysis of Hungarian patients with the hyper-immunoglobulin M syndrome.
Molecular immunology 2008;45(1):278-82.
2007: Sebastiano Guarnaccia; Andrea Lombardi; Alessandro Gaffurini; Mariateresa Chiarini; Serena Domenighini; Emanuele D'Agata; R Fabian Schumacher; Raffaele Spiazzi; Luigi D Notarangelo
Application and implementation of the GINA asthma guidelines by specialist and primary care physicians: a longitudinal follow-up study on 264 children.
Primary care respiratory journal : journal of the General Practice Airways Group 2007;16(6):357-62.
2007: László Maródi; Luigi D Notarangelo
Immunological and genetic bases of new primary immunodeficiencies.
Nature reviews. Immunology 2007;7(11):851-61.
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: Evelina Mazzolari; Concetta Forino; Sara Guerci; Luisa Imberti; Arnalda Lanfranchi; Fulvio Porta; Luigi D Notarangelo
Long-term immune reconstitution and clinical outcome after stem cell transplantation for severe T-cell immunodeficiency.
The Journal of allergy and clinical immunology 2007;120(4):892-9.
2007: Daniele Moratto; Silvia Giliani; Luigi D Notarangelo; Cinzia Mazza; Evelina Mazzolari; Luigi D Notarangelo
The Wiskott-Aldrich syndrome: from genotype-phenotype correlation to treatment.
Expert review of clinical immunology 2007;3(5):813-24.
2007: Evelina Mazzolari; Gaetana Lanzi; Concetta Forino; Arnalda Lanfranchi; G Aksu; C Ozturk; Silvia Giliani; Luigi D Notarangelo; Necil Kutukculer
First report of successful stem cell transplantation in a child with CD40 deficiency.
Bone marrow transplantation 2007;40(3):279-81.
2007: Maria Pia Bondioni; Marzia Duse; Alessandro Plebani; Annarosa Soresina; Luigi D Notarangelo; Marco Berlucchi; Luigi Grazioli
Pulmonary and sinusal changes in 45 patients with primary immunodeficiencies: computed tomography evaluation.
Journal of computer assisted tomography 2007;31(4):620-8.
2007: Marta Donini; Stefania Fontana; Gianfranco Savoldi; William Vermi; Laura Tassone; Francesca Gentili; Elena Zenaro; Daniela Ferrari; Luigi D Notarangelo; Fulvio Porta; Fabio Facchetti; Luigi D Notarangelo; Stefano Dusi; Raffaele Badolato
G-CSF treatment of severe congenital neutropenia reverses neutropenia but does not correct the underlying functional deficiency of the neutrophil in defending against microorganisms.
Blood 2007;109(11):4716-23.
2007: Roberta Castriconi; Alessandra Dondero; Claudia Cantoni; Mariella Della Chiesa; Carola Prato; Marina Nanni; Maurilia Fiorini; Lucia Notarangelo; Silvia Parolini; Lorenzo Moretta; Luigi D Notarangelo; Alessandro Moretta; Cristina Bottino
Functional characterization of natural killer cells in type I leukocyte adhesion deficiency.
Blood 2007;109(11):4873-81.
2007: Veronica Marrella; Pietro Luigi Poliani; Anna Casati; Francesca Rucci; Laura Frascoli; Marie-lise GOUGEON; Brigitte Lemercier; Marita Bosticardo; Maria Ravanini; Manuela Battaglia; Maria Grazia Roncarolo; Marina Cavazzana-Calvo; Fabio Facchetti; Luigi D Notarangelo; Paolo Vezzoni; Fabio Grassi; Anna Villa
A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome.
The Journal of clinical investigation 2007;117(5):1260-9.
2007: Claire Booth; Michael S Hershfield; Luigi D Notarangelo; Rebecca Buckley; Manfred Hoenig; Nizar Mahlaoui; Marina Cavazzana-Calvo; Alessandro Aiuti; H Bobby Gaspar
Management options for adenosine deaminase deficiency; proceedings of the EBMT satellite workshop (Hamburg, March 2006).
Clinical immunology (Orlando, Fla.) 2007;123(2):139-47.
2007: Làszlò Maròdi; Luigi D Notarangelo
Education and worldwide collaboration pays off.
Nature immunology 2007;8(4):323-4.
2007: Pietro Luigi Poliani; stefania mitola; Maria Ravanini; Giulia Ferrari Toninelli; C D'Ippolito; Luigi D Notarangelo; L Bercich; C Wagener; Maurizio Memo; M Presta; Fabio Facchetti
CEACAM1/VEGF cross-talk during neuroblastic tumour differentiation.
The Journal of pathology 2007;211(5):541-9.
2007: Francesco Marangoni; Sara Trifari; Samantha Scaramuzza; Cristina Panaroni; Silvana Martino; Luigi D Notarangelo; Zeina Baz; Ayse Metin; Federica Cattaneo; Anna Villa; Alessandro Aiuti; Manuela Battaglia; Maria-Grazia Roncarolo; Loic DUPRE
WASP regulates suppressor activity of human and murine CD4(+)CD25(+)FOXP3(+) natural regulatory T cells.
The Journal of experimental medicine 2007;204(2):369-80.
2007: Donn M Stewart; Lan Tian; Luigi D Notarangelo; David L Nelson
X-linked hypogammaglobulinemia and isolated growth hormone deficiency: an update.
Immunologic research 2007;38(1-3):391-9.
2007: Chaim M Roifman; Eyal Grunebaum; Ilan Dalal; Luigi D Notarangelo
Matched unrelated bone marrow transplant for severe combined immunodeficiency.
Immunologic research 2007;38(1-3):191-200.
2007: Luigi D Notarangelo; Gaetana Lanzi; Paola Toniati; Silvia Giliani
Immunodeficiencies due to defects of class-switch recombination.
Immunologic research 2007;38(1-3):68-77.
2007: Luigi D Notarangelo; Alessandro Plebani; Evelina Mazzolari; Annarosa Soresina; Maria Pia Bondioni
Genetic causes of bronchiectasis: primary immune deficiencies and the lung.
Respiration; international review of thoracic diseases 2007;74(3):264-75.
2007: Federico Marchetti; Jenny Bua; Alessandro Ventura; Luigi D Notarangelo; Salvatore Di Maio; Giuseppina Migliore; Maurizio Bonati
The awareness among paediatricians of off-label prescribing in children: a survey of Italian hospitals.
European journal of clinical pharmacology 2007;63(1):81-5.
2006: Luigi D Notarangelo; Concetta Forino; Evelina Mazzolari
Stem cell transplantation in primary immunodeficiencies.
Current opinion in allergy and clinical immunology 2006;6(6):443-8.
2006: Alessandra Santoro; Sonia Cannella; G Bossi; Federico Gallo; Antonino Trizzino; Daniela Pende; F Dieli; G Bruno; Jane C Stinchcombe; C Micalizzi; Carmela De Fusco; Cesare Danesino; Lorenzo Moretta; Luigi D Notarangelo; Gillian M Griffiths; Maurizio Aricò
Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis.
Journal of medical genetics 2006;43(12):953-60.
2006: Sara Trifari; Giovanni Sitia; Alessandro Aiuti; Samantha Scaramuzza; Francesco Marangoni; Luca G Guidotti; Silvana Martino; Paola Saracco; Luigi D Notarangelo; Maria-Grazia Roncarolo; Loic DUPRE
Defective Th1 cytokine gene transcription in CD4+ and CD8+ T cells from Wiskott-Aldrich syndrome patients.
Journal of immunology (Baltimore, Md. : 1950) 2006;177(10):7451-61.
2006: Sung-Yun Pai; D DeMartiis; Concetta Forino; S Cavagnini; Arnalda Lanfranchi; Silvia Giliani; Daniele Moratto; Cinzia Mazza; Fulvio Porta; Luisa Imberti; Luigi D Notarangelo; Evelina Mazzolari
Stem cell transplantation for the Wiskott-Aldrich syndrome: a single-center experience confirms efficacy of matched unrelated donor transplantation.
Bone marrow transplantation 2006;38(10):671-9.
2006: Daniele Moratto; Anna Virginia Gulino; Stefania Fontana; Luigi Mori; Silvia Pirovano; Annarosa Soresina; Antonella Meini; Luisa Imberti; Luigi D Notarangelo; Alessandro Plebani; Raffaele Badolato
Combined decrease of defined B and T cell subsets in a group of common variable immunodeficiency patients.
Clinical immunology (Orlando, Fla.) 2006;121(2):203-14.
2006: Stefania Fontana; Silvia Parolini; William Vermi; Sarah Booth; Federico Gallo; Marta Donini; Marzia Benassi; Francesca Gentili; Daniela Ferrari; Luigi D Notarangelo; Patrizia Cavadini; Emanuela Marcenaro; Stefano Dusi; Marco A Cassatella; Fabio Facchetti; Gillian M Griffiths; Alessandro Moretta; Luigi D Notarangelo; Raffaele Badolato
Innate immunity defects in Hermansky-Pudlak type 2 syndrome.
Blood 2006;107(12):4857-64.
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: Luigi D Notarangelo; Evelina Mazzolari
Natural killer cell deficiencies and severe varicella infection.
The Journal of pediatrics 2006;148(4):563-4; author reply 564.
2006: Luigi D Notarangelo; Gaetana Lanzi; Sophie Peron; Anne Durandy
Defects of class-switch recombination.
The Journal of allergy and clinical immunology 2006;117(4):855-64.
2006: Alba Pilotta; Patrizia Mella; M Filisetti; Barbara Felappi; E Prandi; G Parrinello; Luigi D Notarangelo; Fabio Buzi
Common polymorphisms of the growth hormone (GH) receptor do not correlate with the growth response to exogenous recombinant human GH in GH-deficient children.
The Journal of clinical endocrinology and metabolism 2006;91(3):1178-80.
2006: Silvia Giliani; Carmen Bonfim; Geneviève de Saint Basile; Gaetana Lanzi; Nicole Brousse; Adriana Koliski; Mariester Malvezzi; Alain Fischer; Luigi D Notarangelo; Françoise Le Deist
Omenn syndrome in an infant with IL7RA gene mutation.
The Journal of pediatrics 2006;148(2):272-4.
2006: Eyal Grunebaum; Evelina Mazzolari; Fulvio Porta; Daniela Dallera; Adelle Atkinson; Brenda Reid; Luigi D Notarangelo; Chaim M Roifman
Bone marrow transplantation for severe combined immune deficiency.
JAMA : the journal of the American Medical Association 2006;295(5):508-18.
2006: Asghar Aghamohammadi; Maurilia Fiorini; Mostafa Moin; Nima Parvaneh; Shahram Teimourian; Mehdi Yeganeh; Francesca Goffi; Hirokazu Kanegane; Ali Akbar Amirzargar; Zahra Pourpak; Nima Rezaei; Ali Salavati; Nima Pouladi; Sina Abdollahzade; Luigi D Notarangelo; Toshio Miyawaki; Alessandro Plebani
Clinical, immunological and molecular characteristics of 37 Iranian patients with X-linked agammaglobulinemia.
International archives of allergy and immunology 2006;141(4):408-14.
2006: Luigi D Notarangelo; Eleonora Gambineri; Raffaele Badolato
Immunodeficiencies with autoimmune consequences.
Advances in immunology 2006;89():321-70.
2005: Donn M Stewart; Lan Tian; Luigi D Notarangelo; David L Nelson
Update on X-linked hypogammaglobulinemia with isolated growth hormone deficiency.
Current opinion in allergy and clinical immunology 2005;5(6):510-2.
2005: Luigi D Notarangelo; Lucia D Notarangelo; Hans D Ochs
WASP and the phenotypic range associated with deficiency.
Current opinion in allergy and clinical immunology 2005;5(6):485-90.
2005: Fabio Malacarne; Tiziana Benicchi; Lucia Dora Notarangelo; Luigi Mori; Silvia Parolini; Luigi Caimi; Michael Hershfield; Luigi D Notarangelo; Luisa Imberti
Reduced thymic output, increased spontaneous apoptosis and oligoclonal B cells in polyethylene glycol-adenosine deaminase-treated patients.
European journal of immunology 2005;35(11):3376-86.
2005: Claretta Gioia Losi; Antonietta Silini; Claudia Fiorini; Annarosa Soresina; Antonella Meini; Simona Ferrari; Luigi D Notarangelo; Vassilios Lougaris; Alessandro Plebani
Mutational analysis of human BAFF receptor TNFRSF13C (BAFF-R) in patients with common variable immunodeficiency.
Journal of clinical immunology 2005;25(5):496-502.
2005: Raffaele Badolato; R Fabian Schumacher; Elisabetta Rodella; Franco Gargiulo; Carlo Torti; Luigi D Notarangelo; Marzia Duse
Genotyping for guiding drug choice in human immunodeficiency virus-infected children failing multiple antiretroviral treatment regimens.
The Pediatric infectious disease journal 2005;24(8):747-9.
2005: Christina Trambas; Federico Gallo; Daniela Pende; Stefania Marcenaro; Lorenzo Moretta; Carmela De Fusco; Alessandra Santoro; Luigi D Notarangelo; Maurizio Arico; Gillian M Griffiths
A single amino acid change, A91V, leads to conformational changes that can impair processing to the active form of perforin.
Blood 2005;106(3):932-7.
2005: Hans D Ochs; Luigi D Notarangelo
Structure and function of the Wiskott-Aldrich syndrome protein.
Current opinion in hematology 2005;12(4):284-91.
2005: Evelina Mazzolari; D Moshous; Concetta Forino; D De Martiis; C Offer; Arnalda Lanfranchi; Silvia Giliani; Luisa Imberti; Srdjan Pasic; Alberto G Ugazio; Fulvio Porta; Luigi D Notarangelo
Hematopoietic stem cell transplantation in Omenn syndrome: a single-center experience.
Bone marrow transplantation 2005;36(2):107-14.
2005: Evelina Mazzolari; Concetta Forino; M Fontana; C D'Ippolito; Arnalda Lanfranchi; E Gambineri; H Ochs; Raffaele Badolato; Luigi D Notarangelo
A new case of IPEX receiving bone marrow transplantation.
Bone marrow transplantation 2005;35(10):1033-4.
2005: Antonio Musio; Veronica Marrella; Cristina Sobacchi; Francesca Rucci; Laura Fariselli; Silvia Giliani; Gaetana Lanzi; Luigi D Notarangelo; Domenico Delia; Roberto Colombo; Paolo Vezzoni; Anna Villa
Damaging-agent sensitivity of Artemis-deficient cell lines.
European journal of immunology 2005;35(4):1250-6.
2005: Patrizia Cavadini; William Vermi; Fabio Facchetti; Stefania Fontana; Seiho Nagafuchi; Evelina Mazzolari; Anna Sediva; Veronica Marrella; Anna Villa; Alain Fischer; Luigi D Notarangelo; Raffaele Badolato
AIRE deficiency in thymus of 2 patients with Omenn syndrome.
The Journal of clinical investigation 2005;115(3):728-32.
2005: Marko Pesu; Fabio Candotti; Matthew Husa; Sigrun Hofmann; Luigi D Notarangelo; John O'Shea
Jak3, severe combined immunodeficiency, and a new class of immunosuppressive drugs.
Immunological reviews 2005;203():127-42.
2005: Silvia Giliani; Luigi Mori; Geneviève de Saint Basile; Françoise Le Deist; Carmen Rodriguez-Perez; Concetta Forino; Evelina Mazzolari; Stéphanie Dupuis; Ronit Elhasid; Aharon Kessel; Claire Galambrun; Juana Gil; Alain Fischer; Amos Etzioni; Luigi D Notarangelo
Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients.
Immunological reviews 2005;203():110-26.
2004: Yinzhu Jin; Cinzia Mazza; Jacinda R Christie; Silvia Giliani; Maurilia Fiorini; Patrizia Mella; Francesca Gandellini; Donn M Stewart; Qili Zhu; David L Nelson; Luigi D Notarangelo; Hans D Ochs
Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation.
Blood 2004;104(13):4010-9.
2004: Alessandro Plebani; Annarosa Soresina; Luigi D Notarangelo; Isabella Quinti; Domenico De Mattia; Vivana Moschese; Roberto Rondelli; Andrea Pession; Alberto G Ugazio
The italian network of primary immunodeficiencies.
Iranian journal of allergy, asthma, and immunology 2004;3(4):165-8.
2004: Raffaele Badolato; Stefania Fontana; Luigi D Notarangelo; Gianfranco Savoldi
Congenital neutropenia: advances in diagnosis and treatment.
Current opinion in allergy and clinical immunology 2004;4(6):513-21.
2004: Luigi D Notarangelo; Cinzia Mazza; Concetta Forino; Evelina Mazzolari; Fabio Buzi
AIRE and immunological tolerance: insights from the study of autoimmune polyendocrinopathy candidiasis and ectodermal dystrophy.
Current opinion in allergy and clinical immunology 2004;4(6):491-6.
2004: Claudia Fiorini; Sawssen Jilani; Claretta Gioia Losi; Antonietta Silini; Silvia Giliani; Simona Ferrari; Luigi D Notarangelo; Alessandro Plebani; Taher Sfar; Ahmed Helal
A novel activation-induced cytidine deaminase gene mutation in a Tunisian family with hyper IgM syndrome.
European journal of pediatrics 2004;163(12):704-8.
2004: MARISA VULCANO; Stefano Dusi; Daniele Lissandrini; Raffaele Badolato; Paola Mazzi; Elena Riboldi; Elena Borroni; Angelica Calleri; Marta Donini; Alessandro Plebani; Luigi D Notarangelo; Tiziana Musso; Silvano Sozzani
Toll receptor-mediated regulation of NADPH oxidase in human dendritic cells.
Journal of immunology (Baltimore, Md. : 1950) 2004;173(9):5749-56.
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: Hans D Ochs; Luigi D Notarangelo
X-linked immunodeficiencies.
Current allergy and asthma reports 2004;4(5):339-48.
2004: Andrea Di Cataldo; Gregoria Bertuna; Elena Mirabile; Silvana Munda; Katia Tettoni; Luigi D Notarangelo; Fabio Facchetti; Luca Lo Nigro
Natural killer lymphoma/leukemia: an uncommon pediatric case with indolent course.
Leukemia & lymphoma 2004;45(8):1687-9.
2004: Srdjan Pasic; Dragana Vujic; Maurilia Fiorini; Luigi D Notarangelo
T-cell lymphoblastic leukemia/lymphoma in Nijmegen breakage syndrome.
Haematologica 2004;89(8):ECR27.
2004: Anna Virginia Gulino; Daniele Moratto; Silvano Sozzani; Patrizia Cavadini; Karel Otero; Laura Tassone; Luisa Imberti; Silvia Pirovano; Lucia D Notarangelo; Roberta Soresina; Evelina Mazzolari; David L Nelson; Luigi D Notarangelo; Raffaele Badolato
Altered leukocyte response to CXCL12 in patients with warts hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome.
Blood 2004;104(2):444-52.
2004: Angela Gismondi; Loredana Cifaldi; Cinzia Mazza; Silvia Giliani; Silvia Parolini; Stefania Morrone; Jordan Jacobelli; Elisabetta Bandiera; Luigi D Notarangelo; Angela Santoni
Impaired natural and CD16-mediated NK cell cytotoxicity in patients with WAS and XLT: ability of IL-2 to correct NK cell functional defect.
Blood 2004;104(2):436-43.
2004: Silvia Pirovano; Luigi D Notarangelo; Monica Valotti; Alberto G Ugazio; Alberto Albertini; Luisa Imberti
Mutations of the T-cell receptor constant region after in utero stem cell transplantation.
Immunogenetics 2004;56(3):214-9.
2004: Silvia Pirovano; Luigi D Notarangelo; Fabio Malacarne; Evelina Mazzolari; Fulvio Porta; Arnalda Lanfranchi; Silvia Giliani; Sandro Zucca; Sergio Pecorelli; Alberto Albertini; Alberto G Ugazio; Luisa Imberti
Reconstitution of T-cell compartment after in utero stem cell transplantation: analysis of T-cell repertoire and thymic output.
Haematologica 2004;89(4):450-61.
2004: Maurilia Fiorini; Roberta Franceschini; Annarosa Soresina; R Fabian Schumacher; Alberto G Ugazio; Paolo Rossi; Alessandro Plebani; Luigi D Notarangelo
BTK: 22 novel and 25 recurrent mutations in European patients with X-linked agammaglobulinemia.
Human mutation 2004;23(3):286.
2004: Andrew R Gennery; Khulood Khawaja; Paul Veys; R G M Bredius; Luigi D Notarangelo; Evelina Mazzolari; Alain Fischer; Paul Landais; Marina Cavazzana-Calvo; Wilhelm Friedrich; Anders Fasth; Nico M Wulffraat; Susanne Matthes-Martin; Danièle Bensoussan; Pierre Bordigoni; Andrzej Lange; Antonio Pagliuca; Marino Andolina; Andrew J Cant; E Graham Davies
Treatment of CD40 ligand deficiency by hematopoietic stem cell transplantation: a survey of the European experience, 1993-2002.
Blood 2004;103(3):1152-7.
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: Stefania Fontana; Daniele Moratto; Surinder Mangal; Maria De Francesco; William Vermi; Simona Ferrari; Fabio Facchetti; Necil Kutukculer; Claudia Fiorini; Marzia Duse; Pranab K Das; Luigi D Notarangelo; Alessandro Plebani; Raffaele Badolato
Functional defects of dendritic cells in patients with CD40 deficiency.
Blood 2003;102(12):4099-106.
2003: Annalisa Frattini; Alessandra Pangrazio; Lucia Susani; Cristina Sobacchi; Max Mirolo; Mario Abinun; Marino Andolina; Adrienne Flanagan; Edwin M Horwitz; Ercan Mihci; Luigi D Notarangelo; Ugo Ramenghi; Anna Teti; Johan L K Van Hove; Dragana Vujic; Terri Young; Alberto Albertini; Paul J Orchard; Paolo Vezzoni; Anna Villa
Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2003;18(10):1740-7.
2003: Piergiacomo Calzavara-Pinton; Fulvio Porta; Teodosio Izzi; Marina Venturini; Rossana Capezzera; Cristina Zane; Luigi D Notarangelo
Prospects for ultraviolet A1 phototherapy as a treatment for chronic cutaneous graft-versus-host disease.
Haematologica 2003;88(10):1169-75.
2003: Luigi D Notarangelo; Hans D Ochs
Wiskott-Aldrich Syndrome: a model for defective actin reorganization, cell trafficking and synapse formation.
Current opinion in immunology 2003;15(5):585-91.
2003: Necil Kutukculer; Serap Aksoylar; Savas Kansoy; Nazan Cetingul; Luigi D Notarangelo
Outcome of hematopoietic stem cell transplantation in hyper-IgM syndrome caused by CD40 deficiency.
The Journal of pediatrics 2003;143(1):141-2.
2003: Fabio Buzi; Raffaele Badolato; Cinzia Mazza; Silvia Giliani; Luigi D Notarangelo; G Radetti; A Plebani; Luigi D Notarangelo
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome: time to review diagnostic criteria?
The Journal of clinical endocrinology and metabolism 2003;88(7):3146-8.
2003: A Virginia Gulino; Luigi D Notarangelo
Hyper IgM syndromes.
Current opinion in rheumatology 2003;15(4):422-9.
2003: Scott Brodeur; Federica Angelini; Leonard B Bacharier; Anna Blom; Emiko Mizoguchi; Hiroshi Fujiwara; Alessandro Plebani; Luigi D Notarangelo; Bjorn Dahlback; Erdyni N Tsitsikov; Raif S Geha
C4b-binding protein (C4BP) activates B cells through the CD40 receptor.
Immunity 2003;18(6):837-48.
2003: Silvia Pirovano; Evelina Mazzolari; Srdjan Pasic; Alberto Albertini; Luigi D Notarangelo; Luisa Imberti
Impaired thymic output and restricted T-cell repertoire in two infants with immunodeficiency and early-onset generalized dermatitis.
Immunology letters 2003;86(1):93-7.
2003: Luigi D Notarangelo; Silvia Giliani; Evelina Mazzolari; A Virginia Gulino
Primary immune deficiencies unravel the molecular basis of immune response.
Reviews in clinical and experimental hematology 2003;7(1):84-111.
2003: Necil Kutukculer; Daniele Moratto; Yesim Aydinok; Vassilios Lougaris; Serap Aksoylar; Alessandro Plebani; Ferah Genel; Luigi D Notarangelo
Disseminated cryptosporidium infection in an infant with hyper-IgM syndrome caused by CD40 deficiency.
The Journal of pediatrics 2003;142(2):194-6.
2002: Annarosa Soresina; Vassilios Lougaris; Silvia Giliani; Fabio Cardinale; Lucio Armenio; Marco Cattalini; Luigi D Notarangelo; Alessandro Plebani
Mutations of the X-linked lymphoproliferative disease gene SH2D1A mimicking common variable immunodeficiency.
European journal of pediatrics 2002;161(12):656-9.
2002: Daniele Alberti; Alessandro Borsellino; Chiara Locatelli; Roberto Nani; Maurizio Cheli; Giuliani Torre; Luigi D Notarangelo; Giuseppe Locatelli
Percutaneous transhepatic alcoholization: a new therapeutic strategy in children with chronic granulomatous disease and liver abscess.
The Pediatric infectious disease journal 2002;21(11):1081-3.
2002: Maurilia Fiorini; William Vermi; Fabio Facchetti; Daniele Moratto; Giulio Alessandri; Lucia Notarangelo; Arnaldo Caruso; Piergiovanni Grigolato; Alberto G Ugazio; Luigi D Notarangelo; Raffaele Badolato
Defective migration of monocyte-derived dendritic cells in LAD-1 immunodeficiency.
Journal of leukocyte biology 2002;72(4):650-6.
2002: Alberto Tommasini; S Ferrari; Daniele Moratto; Raffaele Badolato; Michele Boniotto; Doroti Pirulli; Luigi D Notarangelo; Marino Andolina
X-chromosome inactivation analysis in a female carrier of FOXP3 mutation.
Clinical and experimental immunology 2002;130(1):127-30.
2002: Alessandro Plebani; Annarosa Soresina; Roberto Rondelli; Giorgio M Amato; Chiara Azzari; Fabio Cardinale; Gianantonio Cazzola; Rita Consolini; Domenico De Mattia; Grazia Dell'Erba; Marzia Duse; Maurilia Fiorini; Silvana Martino; Baldassarre Martire; Massimo Masi; Virginia Monafo; Viviana Moschese; Luigi D Notarangelo; Paola Orlandi; Pietro Panei; Andrea Pession; Maria Chiara Pietrogrande; Claudio Pignata; Isabella Quinti; Vanda Ragno; Paolo Rossi; Antonella Sciotto; Achille Stabile
Clinical, immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicenter study.
Clinical immunology (Orlando, Fla.) 2002;104(3):221-30.
2002: Valentina Leone; Alberto Tommasini; Marino Andolina; G Runti; U De Vonderweid; Cesare Campello; Luigi D Notarangelo; Alessandro Ventura
Elective bone marrow transplantation in a child with X-linked hyper-IgM syndrome presenting with acute respiratory distress syndrome.
Bone marrow transplantation 2002;30(1):49-52.
2002: Fabio Candotti; Luigi D Notarangelo; Roberta Visconti; John O'Shea
Molecular aspects of primary immunodeficiencies: lessons from cytokine and other signaling pathways.
The Journal of clinical investigation 2002;109(10):1261-9.
2002: Alessandro Aiuti; Sergio Vai; Alessandra Mortellaro; Giulia Casorati; Francesca Ficara; Grazia Andolfi; Giuliana Ferrari; Antonella Tabucchi; Filippo Carlucci; Hans D Ochs; Luigi D Notarangelo; Maria-Grazia Roncarolo; Claudio Bordignon
Immune reconstitution in ADA-SCID after PBL gene therapy and discontinuation of enzyme replacement.
Nature medicine 2002;8(5):423-5.
2002: Luigi D Notarangelo; Cinzia Mazza; Silvia Giliani; Chiara D'Aria; Francesca Gandellini; Chiara Ravelli; Maria Grazia Locatelli; David L Nelson; Hans D Ochs; Luigi D Notarangelo
Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia.
Blood 2002;99(6):2268-9.
2002: R Fabian Schumacher; Luigi D Notarangelo
Severe combined immunodeficiencies of the common gamma-chain/JAK3 signaling pathway.
The Israel Medical Association journal : IMAJ 2002;4(2):131-5.
2002: Ulrike H M Ziegner; Roger H Kobayashi; Charlotte Cunningham-Rundles; Teresa Español; Anders Fasth; Anna Huttenlocher; Paul Krogstad; Lars Marthinsen; Luigi D Notarangelo; Srdjan Pasic; Christian H L Rieger; Peter Rudge; Raman Sankar; Ann O Shigeoka; E Richard Stiehm; Kathleen E Sullivan; A David Webster; Hans D Ochs
Progressive neurodegeneration in patients with primary immunodeficiency disease on IVIG treatment.
Clinical immunology (Orlando, Fla.) 2002;102(1):19-24.
2001: Alessandro Moretta; Cristina Bottino; Silvia Parolini; Lorenzo Moretta; Roberto Biassoni; Luigi D Notarangelo
Cellular and molecular pathogenesis of X-linked lymphoproliferative disease.
Current opinion in allergy and clinical immunology 2001;1(6):513-7.
2001: David M Frucht; Massimo Gadina; G Jayashree Jagadeesh; Ivona Aksentijevich; K Takada; Jack J H Bleesing; J Nelson; Linda Muul; G Perham; G Morgan; E J Gerritsen; R Fabian Schumacher; Patrizia Mella; P A Veys; Thomas A Fleisher; E R Kaminski; Luigi D Notarangelo; John O'Shea; Fabio Candotti
Unexpected and variable phenotypes in a family with JAK3 deficiency.
Genes and immunity 2001;2(8):422-32.
2001: Paola Allavena; Raffaele Badolato; Fabio Facchetti; William Vermi; C Paganin; Walter Luini; Silvia Giliani; Cinzia Mazza; U Bolzern; I Chiesa; Luigi D Notarangelo; Alberto Mantovani; Silvano Sozzani
Monocytes from Wiskott-Aldrich patients differentiate in functional mature dendritic cells with a defect in CD83 expression.
European journal of immunology 2001;31(12):3413-21.
2001: S Ferrari; Silvia Giliani; Antonella Insalaco; Abdulaziz Al-Ghonaium; Annarosa Soresina; Michael Loubser; Maria Antonietta Avanzini; Massimo Marconi; Raffaele Badolato; Alberto G Ugazio; Y Levy; Nadia Catalan; Anne Durandy; Abdelghani Tbakhi; Luigi D Notarangelo; Alessandro Plebani
Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM.
Proceedings of the National Academy of Sciences of the United States of America 2001;98(22):12614-9.
2001: Patrizia Mella; R Fabian Schumacher; T Cranston; G de Saint Basile; Gianfranco Savoldi; Luigi D Notarangelo
Eleven novel JAK3 mutations in patients with severe combined immunodeficiency-including the first patients with mutations in the kinase domain.
Human mutation 2001;18(4):355-6.
2001: Luigi D Notarangelo; Patrizia Mella; Alison Jones; G de Saint Basile; Gianfranco Savoldi; T Cranston; Mauno Vihinen; R Fabian Schumacher
Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency.
Human mutation 2001;18(4):255-63.
2001: Rita Clementi; Udo zur Stadt; G Savoldi; S Varoitto; Valentino Conter; Carmela De Fusco; Luigi D Notarangelo; M Schneider; C Klersy; Gritta Janka; Cesare Danesino; Maurizio Aricò
Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis.
Journal of medical genetics 2001;38(9):643-6.
2001: Cristina Bottino; Michela Falco; Silvia Parolini; Emanuela Marcenaro; Raffaella Augugliaro; Simona Sivori; E Landi; Roberto Biassoni; Luigi D Notarangelo; Lorenzo Moretta; Alessandro Moretta
NTB-A [correction of GNTB-A], a novel SH2D1A-associated surface molecule contributing to the inability of natural killer cells to kill Epstein-Barr virus-infected B cells in X-linked lymphoproliferative disease.
The Journal of experimental medicine 2001;194(3):235-46.
2001: Joseph Lewis; LJ Eiben; David L Nelson; J I Cohen; K E Nichols; H D Ochs; Luigi D Notarangelo; Colin S Duckett
Distinct interactions of the X-linked lymphoproliferative syndrome gene product SAP with cytoplasmic domains of members of the CD2 receptor family.
Clinical immunology (Orlando, Fla.) 2001;100(1):15-23.
2001: B W Richter; S S Mir; LJ Eiben; Joseph Lewis; Stephanie Birkey Reffey; Annalisa Frattini; L Tian; S Frank; R J Youle; David L Nelson; Luigi D Notarangelo; Paolo Vezzoni; Howard Fearnhead; Colin S Duckett
Molecular cloning of ILP-2, a novel member of the inhibitor of apoptosis protein family.
Molecular and cellular biology 2001;21(13):4292-301.
2001: Cristina Bottino; Silvia Parolini; Roberto Biassoni; Michela Falco; Luigi D Notarangelo; Alessandro Moretta
X-linked lymphoproliferative disease: the dark side of 2b4 function.
Advances in experimental medicine and biology 2001;495():63-7.
2001: Fabio Buzi; Patrizia Mella; Alba Pilotta; Barbara Felappi; G Camerino; Luigi D Notarangelo
Frasier syndrome with childhood-onset renal failure.
Hormone research 2001;55(2):77-80.
2001: Mauno Vihinen; Francisco X Arredondo-Vega; J L Casanova; A Etzioni; Silvia Giliani; L Hammarström; Michael S Hershfield; P G Heyworth; Amy P Hsu; A Lähdesmäki; Ilkka Lappalainen; Luigi D Notarangelo; Jennifer M Puck; W Reith; D Roos; R Fabian Schumacher; K Schwarz; Paolo Vezzoni; Anna Villa; Jouni Väliaho; C I Edvard Smith
Primary immunodeficiency mutation databases.
Advances in genetics 2001;43():103-88.
2000: Luigi D Notarangelo; Silvia Giliani; C Mazza; Patrizia Mella; Gianfranco Savoldi; C Rodriguez-Pérez; Evelina Mazzolari; Maurilia Fiorini; Marzia Duse; Alessandro Plebani; Alberto G Ugazio; Mauno Vihinen; Fabio Candotti; R Fabian Schumacher
Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency. Defects of the gamma(c)-JAK3 signaling pathway as a model.
Immunological reviews 2000;178():39-48.
2000: Maria Grazia Sacco; M Ungari; Enrica Mira Catò; Anna Villa; D Strina; Luigi D Notarangelo; J Jonkers; Luigi Zecca; Fabio Facchetti; Paolo Vezzoni
Lymphoid abnormalities in CD40 ligand transgenic mice suggest the need for tight regulation in gene therapy approaches to hyper immunoglobulin M (IgM) syndrome.
Cancer gene therapy 2000;7(10):1299-306.
2000: Patrick Revy; T Muto; Y Levy; Frederic Geissmann; Alessandro Plebani; Ozden Sanal; Nadia Catalan; Monique Forveille; R Dufourcq-Labelouse; A Gennery; Ilhan Tezcan; Fügen Ersoy; H Kayserili; Alberto G Ugazio; Nicole Brousse; Masamichi Muramatsu; Luigi D Notarangelo; Kazuo Kinoshita; Tasuku Honjo; Alain Fischer; Anne Durandy
Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2).
Cell 2000;102(5):565-75.
2000: Silvia Parolini; Cristina Bottino; Michela Falco; Raffaella Augugliaro; Silvia Giliani; R Franceschini; H D Ochs; H Wolf; J Y Bonnefoy; Roberto Biassoni; Lorenzo Moretta; Luigi D Notarangelo; Alessandro Moretta
X-linked lymphoproliferative disease. 2B4 molecules displaying inhibitory rather than activating function are responsible for the inability of natural killer cells to kill Epstein-Barr virus-infected cells.
The Journal of experimental medicine 2000;192(3):337-46.
2000: Luigi D Notarangelo; Silvia Giliani; Patrizia Mella; R Fabian Schumacher; C Mazza; Gianfranco Savoldi; C Rodriguez-Pérez; Raffaele Badolato; Evelina Mazzolari; Fulvio Porta; Fabio Candotti; Alberto G Ugazio
Combined immunodeficiencies due to defects in signal transduction: defects of the gammac-JAK3 signaling pathway as a model.
Immunobiology 2000;202(2):106-19.
2000: Mauno Vihinen; Anna Villa; Patrizia Mella; R Fabian Schumacher; Gianfranco Savoldi; John O'Shea; Fabio Candotti; Luigi D Notarangelo
Molecular modeling of the Jak3 kinase domains and structural basis for severe combined immunodeficiency.
Clinical immunology (Orlando, Fla.) 2000;96(2):108-18.
2000: CA Gomez; L M Ptaszek; Anna Villa; F Bozzi; Cristina Sobacchi; E G Brooks; Luigi D Notarangelo; E Spanopoulou; Zhen-Qiang Pan; Paolo Vezzoni; Patricia Cortes; S Santagata
Mutations in conserved regions of the predicted RAG2 kelch repeats block initiation of V(D)J recombination and result in primary immunodeficiencies.
Molecular and cellular biology 2000;20(15):5653-64.
2000: Annalisa Frattini; Paul J Orchard; Cristina Sobacchi; Silvia Giliani; Mario Abinun; JP Mattsson; DJ Keeling; A K Andersson; Pia Wallbrandt; Luigi Zecca; Luigi D Notarangelo; Paolo Vezzoni; Anna Villa
Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis.
Nature genetics 2000;25(3):343-6.
2000: Patrizia Mella; Luisa Imberti; D Brugnoni; Silvia Pirovano; Fabio Candotti; Evelina Mazzolari; A Bettinardi; Maurilia Fiorini; Domenico De Mattia; Baldassarre Martire; Alessandro Plebani; Luigi D Notarangelo; Silvia Giliani
Development of autologous T lymphocytes in two males with X-linked severe combined immune deficiency: molecular and cellular characterization.
Clinical immunology (Orlando, Fla.) 2000;95(1 Pt 1):39-50.
2000: Ilkka Lappalainen; Silvia Giliani; R Franceschini; J Y Bonnefoy; Colin S Duckett; Luigi D Notarangelo; Mauno Vihinen
Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease.
Biochemical and biophysical research communications 2000;269(1):124-30.
2000: Giovanni Cavagni; Carlo Caffarelli; Fabio Facchetti; D Brugnoni; Luigi D Notarangelo; Cinzia Tosoni; R Altobelli
Cutaneous CD30+ cells in children with atopic dermatitis.
International archives of allergy and immunology 2000;121(3):224-8.
2000: Min Chen; A Cheng; Fabio Candotti; Yong-Jie Zhou; A Hymel; A Fasth; Luigi D Notarangelo; John O'Shea
Complex effects of naturally occurring mutations in the JAK3 pseudokinase domain: evidence for interactions between the kinase and pseudokinase domains.
Molecular and cellular biology 2000;20(3):947-56.
2000: R Fabian Schumacher; Patrizia Mella; Raffaele Badolato; Maurilia Fiorini; Gianfranco Savoldi; Silvia Giliani; Anna Villa; Fabio Candotti; A Tampalini; John O'Shea; Luigi D Notarangelo
Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism.
Human genetics 2000;106(1):73-9.
2000: Anna Villa; F Bozzi; Cristina Sobacchi; D Strina; A Fasth; Srdjan Pasic; Luigi D Notarangelo; Paolo Vezzoni
Prenatal diagnosis of RAG-deficient Omenn syndrome.
Prenatal diagnosis 2000;20(1):56-9.
1999: S Signorini; Luisa Imberti; Silvia Pirovano; Anna Villa; Fabio Facchetti; M Ungari; F Bozzi; Alberto Albertini; Alberto G Ugazio; Paolo Vezzoni; Luigi D Notarangelo
Intrathymic restriction and peripheral expansion of the T-cell repertoire in Omenn syndrome.
Blood 1999;94(10):3468-78.
1999: Luigi D Notarangelo; A Villa; K Schwarz
RAG and RAG defects.
Current opinion in immunology 1999;11(4):435-42.
1999: R Fabian Schumacher; Patrizia Mella; F Lalatta; Maurilia Fiorini; Silvia Giliani; Anna Villa; Fabio Candotti; Luigi D Notarangelo
Prenatal diagnosis of JAK3 deficient SCID.
Prenatal diagnosis 1999;19(7):653-6.
1999: Fabio Facchetti; J K Chan; W Zhang; A Tironi; Marco Chilosi; S Parolini; Luigi D Notarangelo; L E Samelson
Linker for activation of T cells (LAT), a novel immunohistochemical marker for T cells, NK cells, mast cells, and megakaryocytes: evaluation in normal and pathological conditions.
The American journal of pathology 1999;154(4):1037-46.
1999: Anna Villa; S Santagata; F Bozzi; Luisa Imberti; Luigi D Notarangelo
Omenn syndrome: a disorder of Rag1 and Rag2 genes.
Journal of clinical immunology 1999;19(2):87-97.
1999: William Vermi; L Blanzuoli; M D Kraus; Piergiovanni Grigolato; F Donato; G Loffredo; C E Marino; D Alberti; Luigi D Notarangelo; Fabio Facchetti
The spleen in the Wiskott-Aldrich syndrome: histopathologic abnormalities of the white pulp correlate with the clinical phenotype of the disease.
The American journal of surgical pathology 1999;23(2):182-91.
1999: Silvia Giliani; Maurilia Fiorini; Patrizia Mella; Fabio Candotti; R Fabian Schumacher; Georg S Wengler; F Lalatta; A Fasth; Raffaele Badolato; Alberto G Ugazio; Alberto Albertini; Luigi D Notarangelo
Prenatal molecular diagnosis of Wiskott-Aldrich syndrome by direct mutation analysis.
Prenatal diagnosis 1999;19(1):36-40.
1999: Fabio Facchetti; William Vermi; S Fiorentini; Marco Chilosi; A Caruso; Marzia Duse; Luigi D Notarangelo; Raffaele Badolato
Expression of inducible nitric oxide synthase in human granulomas and histiocytic reactions.
The American journal of pathology 1999;154(1):145-52.
1998: F Bozzi; Gérard Lefranc; Anna Villa; Raffaele Badolato; R Fabian Schumacher; G Khalil; Jacques Loiselet; S Bresciani; John O'Shea; Paolo Vezzoni; Luigi D Notarangelo; Fabio Candotti
Molecular and biochemical characterization of JAK3 deficiency in a patient with severe combined immunodeficiency over 20 years after bone marrow transplantation: implications for treatment.
British journal of haematology 1998;102(5):1363-6.
1998: Raffaele Badolato; S Sozzani; Fabio Malacarne; S Bresciani; Maurilia Fiorini; A Borsatti; Alberto Albertini; A Mantovani; Alberto G Ugazio; Luigi D Notarangelo
Monocytes from Wiskott-Aldrich patients display reduced chemotaxis and lack of cell polarization in response to monocyte chemoattractant protein-1 and formyl-methionyl-leucyl-phenylalanine.
Journal of immunology (Baltimore, Md. : 1950) 1998;161(2):1026-33.
1998: Georg S Wengler; Silvia Giliani; Maurilia Fiorini; Patrizia Mella; E Mantuano; A Zanola; G Pollonini; M M Eibl; Alberto G Ugazio; Luigi D Notarangelo; Ornella Parolini
Mutation analysis by a non-radioactive single-strand conformation polymorphism assay in nine families with X-linked severe combined immunodeficiency (SCIDX1).
British journal of haematology 1998;101(3):586-91.
1998: Anna Villa; S Santagata; F Bozzi; Silvia Giliani; Annalisa Frattini; Luisa Imberti; L B Gatta; H D Ochs; K Schwarz; Luigi D Notarangelo; Paolo Vezzoni; E Spanopoulou
Partial V(D)J recombination activity leads to Omenn syndrome.
Cell 1998;93(5):885-96.
1998: Fabio Facchetti; L Blanzuoli; William Vermi; Luigi D Notarangelo; Silvia Giliani; Maurilia Fiorini; A Fasth; Donn M Stewart; David L Nelson
Defective actin polymerization in EBV-transformed B-cell lines from patients with the Wiskott-Aldrich syndrome.
The Journal of pathology 1998;185(1):99-107.
1998: R Fabian Schumacher; A Arrighini; D Alberti; Raffaele Badolato; M Fiorini; L Notarangelo; Luigi D Notarangelo; Alberto G Ugazio
Ureteral obstruction in a patient with chronic granulomatous disease, receiving combined prophylaxis with IFN-gamma and antibiotics.
European journal of pediatrics 1998;157(4):352-3.
1998: D Brugnoni; Luigi D Notarangelo; Alessandra Sottini; Paolo Airò; M Pennacchio; Evelina Mazzolari; S Signorini; Fabio Candotti; Anna Villa; Patrizia Mella; Paolo Vezzoni; Roberto Cattaneo; Alberto G Ugazio; Luisa Imberti
Development of autologous, oligoclonal, poorly functioning T lymphocytes in a patient with autosomal recessive severe combined immunodeficiency caused by defects of the Jak3 tyrosine kinase.
Blood 1998;91(3):949-55.
1998: Narayanaswamy Ramesh; M Seki; Luigi D Notarangelo; Raif S Geha
The hyper-IgM (HIM) syndrome.
Springer seminars in immunopathology 1998;19(4):383-99.
1998: Luigi D Notarangelo
Genetics and treatment of primary immunodeficiencies. Introduction.
Springer seminars in immunopathology 1998;19(4):363-7.
1997: Fabio Candotti; S A Oakes; J A Johnston; Silvia Giliani; R Fabian Schumacher; Patrizia Mella; Maurilia Fiorini; Alberto G Ugazio; Raffaele Badolato; Luigi D Notarangelo; F Bozzi; P Macchi; D Strina; Paolo Vezzoni; R. Michael Blaese; John O'Shea; Anna Villa
Structural and functional basis for JAK3-deficient severe combined immunodeficiency.
Blood 1997;90(10):3996-4003.
1997: John O'Shea; Luigi D Notarangelo; J A Johnston; Fabio Candotti
Advances in the understanding of cytokine signal transduction: the role of Jaks and STATs in immunoregulation and the pathogenesis of immunodeficiency.
Journal of clinical immunology 1997;17(6):431-47.
1997: D Brugnoni; Paolo Airò; F Facchetti; L Blanzuoli; Alberto G Ugazio; R Cattaneo; Luigi D Notarangelo
In vitro cell death of activated lymphocytes in Omenn's syndrome.
European journal of immunology 1997;27(11):2765-73.
1997: Raffaele Badolato; Alessandro Negro Ponzi; M Millesimo; Luigi D Notarangelo; Tiziana Musso
Interleukin-15 (IL-15) induces IL-8 and monocyte chemotactic protein 1 production in human monocytes.
Blood 1997;90(7):2804-9.
1997: D Brugnoni; Paolo Airò; R Marino; Luigi D Notarangelo; R A van Lier; R Cattaneo
CD70 expression on T-cell subpopulations: study of normal individuals and patients with chronic immune activation.
Immunology letters 1997;55(2):99-104.
1997: A Bettinardi; D Brugnoni; E Quiròs-Roldan; Alberto Malagoli; S La Grutta; A Correra; Luigi D Notarangelo
Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis.
Blood 1997;89(3):902-9.
1997: Georg S Wengler; Ornella Parolini; Maurilia Fiorini; Patrizia Mella; H Smith; Alberto G Ugazio; Luigi D Notarangelo
A PCR-based non-radioactive X-chromosome inactivation assay for genetic counseling in X-linked primary immunodeficiencies.
Life sciences 1997;61(14):1405-11.
1996: S A Oakes; Fabio Candotti; JA Johnston; Y Q Chen; John J Ryan; N Taylor; Xibao Liu; Lothar Hennighausen; Luigi D Notarangelo; William Paul; R. Michael Blaese; John O'Shea
Signaling via IL-2 and IL-4 in JAK3-deficient severe combined immunodeficiency lymphocytes: JAK3-dependent and independent pathways.
Immunity 1996;5(6):605-15.
1996: Georg S Wengler; A Lanfranchi; Tiziana Frusca; Rosanna Verardi; A Neva; D Brugnoni; Silvia Giliani; Maurilia Fiorini; Patrizia Mella; F Guandalini; Evelina Mazzolari; S Pecorelli; Luigi D Notarangelo; F Porta; Alberto G Ugazio
In-utero transplantation of parental CD34 haematopoietic progenitor cells in a patient with X-linked severe combined immunodeficiency (SCIDXI).
Lancet 1996;348(9040):1484-7.
1996: D Brugnoni; Paolo Airò; M Lebovitz; Fabio Malacarne; Alberto G Ugazio; Luigi D Notarangelo; A Plebani; Roberto Cattaneo
CD4+ cells from patients with Common Variable Immunodeficiency have a reduced ability of CD40 ligand membrane expression after in vitro stimulation.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 1996;7(4):176-9.
1996: Luigi D Notarangelo
Immunodeficiencies caused by genetic defects in protein kinases.
Current opinion in immunology 1996;8(4):448-53.
1996: A Villa; M Sironi; P Macchi; C Matteucci; Luigi D Notarangelo; Paolo Vezzoni; A Mantovani
Monocyte function in a severe combined immunodeficient patient with a donor splice site mutation in the Jak3 gene.
Blood 1996;88(3):817-23.
1996: Fabio Candotti; S A Oakes; JA Johnston; Luigi D Notarangelo; John O'Shea; R. Michael Blaese
In vitro correction of JAK3-deficient severe combined immunodeficiency by retroviral-mediated gene transduction.
The Journal of experimental medicine 1996;183(6):2687-92.
1996: Donn M Stewart; S Treiber-Held; C C Kurman; Fabio Facchetti; Luigi D Notarangelo; David L Nelson
Studies of the expression of the Wiskott-Aldrich syndrome protein.
The Journal of clinical investigation 1996;97(11):2627-34.
1996: M Duse; Luigi D Notarangelo; S Tiberti; E Menegati; Alessandro Plebani; Alberto G Ugazio
Intravenous immune globulin in the treatment of intractable childhood epilepsy.
Clinical and experimental immunology 1996;104 Suppl 1():71-6.
1996: D Brugnoni; Paolo Airò; D Graf; M Marconi; C Molinari; D Braga; Fabio Malacarne; A Soresina; Alberto G Ugazio; Roberto Cattaneo; Richard A Kroczek; Luigi D Notarangelo
Ontogeny of CD40L [corrected] expression by activated peripheral blood lymphocytes in humans.
Immunology letters 1996;49(1-2):27-30.
1995: Georg S Wengler; Luigi D Notarangelo; S Berardelli; G Pollonni; Patrizia Mella; A Fasth; Alberto G Ugazio; Ornella Parolini
High prevalence of nonsense, frame shift, and splice-site mutations in 16 patients with full-blown Wiskott-Aldrich syndrome.
Blood 1995;86(10):3648-54.
1995: D Brugnoni; A Soresina; P Airo; Alberto G Ugazio; Luigi D Notarangelo; Roberto Cattaneo; M Duse
Effect of HIV vertical transmission on the ontogeny of T cell antigens involved in the regulation of humoral immune response.
Clinical and experimental immunology 1995;102(2):238-42.
1995: Claudio Bordignon; Luigi D Notarangelo; N Nobili; G Ferrari; G Casorati; P Panina; Evelina Mazzolari; D Maggioni; cesare rossi; P Servida; Alberto G Ugazio; F Mavilio
Gene therapy in peripheral blood lymphocytes and bone marrow for ADA- immunodeficient patients.
Science (New York, N.Y.) 1995;270(5235):470-5.
1995: Georg S Wengler; Luigi D Notarangelo; Silvia Giliani; M G Pirastru; Alberto G Ugazio; Ornella Parolini
Mutation analysis in Wiskott Aldrich syndrome on chorionic villus DNA.
Lancet 1995;346(8975):641-2.
1995: R Toraldo; Michele D'Avanzo; Carlo Tolone; G Canino; F Iafusco; Luigi D Notarangelo; Alberto G Ugazio; C Cirillo
Effect of interferon-alpha therapy in a patient with common variable immunodeficiency and chronic Epstein-Barr virus infection.
Pediatric hematology and oncology 1995;12(5):489-93.
1995: Donn M Stewart; Luigi D Notarangelo; C C Kurman; Louis M Staudt; David L Nelson
Molecular genetic analysis of X-linked hypogammaglobulinemia and isolated growth hormone deficiency.
Journal of immunology (Baltimore, Md. : 1950) 1995;155(5):2770-4.
1995: P Macchi; Luigi D Notarangelo; Silvia Giliani; D Strina; M Repetto; Maria Grazia Sacco; Paolo Vezzoni; A Villa
The genomic organization of the human transcription factor 3 (TFE3) gene.
Genomics 1995;28(3):491-4.
1995: Fabio Facchetti; C Appiani; L Salvi; J Levy; Luigi D Notarangelo
Immunohistologic analysis of ineffective CD40-CD40 ligand interaction in lymphoid tissues from patients with X-linked immunodeficiency with hyper-IgM. Abortive germinal center cell reaction and severe depletion of follicular dendritic cells.
Journal of immunology (Baltimore, Md. : 1950) 1995;154(12):6624-33.
1995: Alessandra Sottini; E Quiròs-Roldan; Luigi D Notarangelo; Alberto Malagoli; Daniele Primi; Luisa Imberti
Engrafted maternal T cells in a severe combined immunodeficiency patient express T-cell receptor variable beta segments characterized by a restricted V-D-J junctional diversity.
Blood 1995;85(8):2105-13.
1995: A Villa; Luigi D Notarangelo; P Macchi; E Mantuano; G Cavagni; D Brugnoni; D Strina; M C Patrosso; U Ramenghi; Maria Grazia Sacco
X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene.
Nature genetics 1995;9(4):414-7.
1995: Fabio Buzi; T Bezante; A Brunori; Luigi D Notarangelo; Alberto G Ugazio
Pseudohypoaldosteronism: report of a case presenting as failure to thrive.
Journal of pediatric endocrinology & metabolism : JPEM 1995;8(1):61-5.
1994: Richard A Kroczek; D Graf; D Brugnoni; Silvia Giliani; U Korthüer; Alberto G Ugazio; G Senger; H W Mages; A Villa; Luigi D Notarangelo
Defective expression of CD40 ligand on T cells causes "X-linked immunodeficiency with hyper-IgM (HIGM1)".
Immunological reviews 1994;138():39-59.
1994: M Duse; Paolo Airò; E Prati; A Soresina; Luigi D Notarangelo; R Cattaneo; Alberto G Ugazio
Naive and memory T-cells in HIV-infected children.
European journal of pediatrics 1994;153(4):301.
1994: A Villa; Luigi D Notarangelo; J P Di Santo; P P Macchi; D Strina; Annalisa Frattini; F Lucchini; C M Patrosso; Silvia Giliani; E Mantuano
Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis.
Proceedings of the National Academy of Sciences of the United States of America 1994;91(6):2110-4.
1994: Fabio Buzi; Luigi D Notarangelo; Alessandro Plebani; M Duse; Ornella Parolini; M Monteleone; Alberto G Ugazio
X-linked agammaglobulinemia, growth hormone deficiency and delay of growth and puberty.
Acta paediatrica (Oslo, Norway : 1992) 1994;83(1):99-102.
1994: A Villa; D Strina; P Macchi; M C Patrosso; Paolo Vezzoni; P A Tovo; Silvia Giliani; Alberto G Ugazio; Luigi D Notarangelo
C to T mutation causing premature termination of CD40 ligand at amino acid 221 in a patient affected by hyper IgM syndrome.
Human mutation 1994;3(1):73-5.
1993: G R Burgio; Alberto G Ugazio; Luigi D Notarangelo; M Duse
The lesson of agammaglobulinemia 40 years after Bruton's discovery.
Annals of allergy 1993;71(4):408-15.
1993: Luigi D Notarangelo; Fabio Candotti; Ornella Parolini; E Mantuano; Silvia Giliani; A Lanfranchi; Alberto Albertini
Application of molecular analysis to genetic counseling in the Wiskott-Aldrich syndrome (WAS).
DNA and cell biology 1993;12(7):645-9.
1993: S Guarnaccia; C C Kurman; Luigi D Notarangelo; S La Grutta; Fabio Candotti; Alberto G Ugazio; D L Nelson; J A Bellanti
Serum soluble interleukin-2 receptor (IL-2R) in children with allergic disorders.
Annals of allergy 1993;71(3):259-62.
1993: Claudio Bordignon; F Mavilio; G Ferrari; P Servida; Alberto G Ugazio; Luigi D Notarangelo; Eli Gilboa; silvano rossini; Richard J O'Reilly; C A Smith
Transfer of the ADA gene into bone marrow cells and peripheral blood lymphocytes for the treatment of patients affected by ADA-deficient SCID.
Human gene therapy 1993;4(4):513-20.
1993: Luigi D Notarangelo; M Duse; S Tiberti; B Guarneri; A Brunori; A Negrini; Alberto G Ugazio
Intravenous immunoglobulin in two children with Guillain-Barré syndrome.
European journal of pediatrics 1993;152(4):372-4.
1993: M Padayachee; Roland J Levinsky; Christine Kinnon; A Finn; C McKeown; C Feighery; Luigi D Notarangelo; R W Hendriks; A P Read; Sue Malcolm
Mapping of the X linked form of hyper IgM syndrome (HIGM1)
Journal of medical genetics 1993;30(3):202-5.
1993: U Korthäuer; D Graf; H W Mages; F Brière; M Padayachee; Sue Malcolm; Alberto G Ugazio; Luigi D Notarangelo; Roland J Levinsky; Richard A Kroczek
Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM.
Nature 1993;361(6412):539-41.
1993: Luigi D Notarangelo; E Mantuano; Silvia Bione; E Gimbo; Silvia Giliani; A Caraffini; D Purtilo; C Farr; Alberto G Ugazio; D Toniolo
Molecular analysis of X-linked immunodeficiency with hyper-IgM and X-linked lymphoproliferative syndrome.
Immunodeficiency 1993;4(1-4):225-9.
1992: Luigi D Notarangelo; G Stoppoloni; R Toraldo; Evelina Mazzolari; A Coletta; Paolo Airò; Claudio Bordignon; Alberto G Ugazio
Insulin-dependent diabetes mellitus and severe atopic dermatitis in a child with adenosine deaminase deficiency.
European journal of pediatrics 1992;151(11):811-4.
1992: Luigi D Notarangelo; Ornella Parolini; G Baiguini; Fabio Buzi; C Paterlini; A Perini; M Rimoldi; S Tiberti; Graziella Uziel; L Notarangelo
Carrier detection in X-linked adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis.
European journal of pediatrics 1992;151(10):761-3.
1992: Luigi D Notarangelo; M Duse; Alberto G Ugazio
Immunodeficiency with hyper-IgM (HIM).
Immunodeficiency reviews 1992;3(2):101-21.
1991: Luigi D Notarangelo; Ornella Parolini; A Albertini; M Duse; Evelina Mazzolari; A Plebani; G Camerino; Alberto G Ugazio
Analysis of X-chromosome inactivation in X-linked immunodeficiency with hyper-IgM (HIGM1): evidence for involvement of different hematopoietic cell lineages.
Human genetics 1991;88(2):130-4.
1991: Luigi D Notarangelo; Ornella Parolini; Fulvio Porta; F Locatelli; A Lanfranchi; M Marconi; L Nespoli; A Albertini; I W Craig; Alberto G Ugazio
Analysis of X-chromosome inactivation and presumptive expression of the Wiskott-Aldrich syndrome (WAS) gene in hematopoietic cell lineages of a thrombocytopenic carrier female of WAS.
Human genetics 1991;88(2):237-41.
1991: Giuseppe Roberto Burgio; Luigi D Notarangelo; M Duse; Alberto G Ugazio
Primary immunodeficiencies: milestones in the history of pediatric immunology.
Pediatric hematology and oncology 1991;8(3):203-14.
1991: Luigi D Notarangelo; Ornella Parolini; M Lusardi; Evelina Mazzolari; Alberto G Ugazio
[Primary immunodeficiency 1991: new uses and prospects of genetic counseling].
La Pediatria medica e chirurgica : Medical and surgical pediatrics 1991;13(2):129-33.
1991: Fulvio Porta; Luigi D Notarangelo; Fabio Candotti; Evelina Mazzolari; A Lanfranchi; Alberto G Ugazio
[Bone marrow transplantation in congenital defects of immunity].
La Pediatria medica e chirurgica : Medical and surgical pediatrics 1991;13(1):27-30.
1991: Luigi D Notarangelo; Ornella Parolini; Fulvio Porta; A Arrighini; G Basagni; Fabio Candotti; A Cavagna; G Cossandi; C Crescini; R Faustini
Use of the highly polymorphic DNA marker CRI-S232 for monitoring of engraftment and chimerism following bone marrow transplantation.
Bone marrow transplantation 1991;7 Suppl 3():136-8.
1989: S Guioli; B Arveiler; Barbara Bardoni; Luigi D Notarangelo; P Panina; M Duse; Alberto G Ugazio; I Oberlé; Geneviève de Saint Basile; Jean-Louis Mandel
Close linkage of probe p212 (DXS178) to X-linked agammaglobulinemia.
Human genetics 1989;84(1):19-21.
1989: David L Nelson; Luigi D Notarangelo
Overview of immunodeficiency diseases where bone marrow transplantation is feasible.
Bone marrow transplantation 1989;4 Suppl 4():132.
1989: G R Burgio; A G Ugazio; Luigi D Notarangelo
Immunology of the neonate.
Current opinion in immunology 1989;2(5):770-7.
1988: Giuseppe Roberto Burgio; M S Scotta; Luigi D Notarangelo; Stefania Viola; Mara De Amici
[Pro-allergy role of infection. A component of the mode of reacting].
La Pediatria medica e chirurgica : Medical and surgical pediatrics 1988;10(2):203-11.
1988: Luigi D Notarangelo; P Panina; L Imberti; P Malfa; Alberto G Ugazio; A Albertini
Neonatal T4+ lymphocytes: analysis of the expression of 4B4 and 2H4 antigens.
Clinical immunology and immunopathology 1988;46(1):61-7.
1985: M Duse; Virginia Monafo; Luigi D Notarangelo; G Leo
[Granulocyte disorders].
La Pediatria medica e chirurgica : Medical and surgical pediatrics 1985;7(2):189-92.