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Jennifer Puck

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Jennifer M Puck
Reply.
Divya Punwani; Karen Simon; Chang-Hwa Song; Jenny Zhang; David M Bodine; Youngnim Choi; Amalia Dutra; Diana Gonzalez-Espinosa; Martin Naradikian; Evgenia Pak; Jennifer M Puck
Transcription factor zinc finger and BTB domain 1 is essential for lymphocyte development.
Jennifer M Puck
Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles.

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All Publications

2013: Jennifer M Puck
Reply.
The Journal of allergy and clinical immunology 2013;131(4):1252-3.
2012: Divya Punwani; Karen Simon; Chang-Hwa Song; Jenny Zhang; David M Bodine; Youngnim Choi; Amalia Dutra; Diana Gonzalez-Espinosa; Martin Naradikian; Evgenia Pak; Jennifer M Puck
Transcription factor zinc finger and BTB domain 1 is essential for lymphocyte development.
Journal of immunology (Baltimore, Md. : 1950) 2012;189(3):1253-64.
2012: Jennifer M Puck
Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles.
The Journal of allergy and clinical immunology 2012;129(3):607-16.
2012: Jennifer M Puck; Jack Routes; Alexandra H Filipovich; Kate Sullivan
Expert commentary: practical issues in newborn screening for severe combined immune deficiency (SCID).
Journal of clinical immunology 2012;32(1):36-8.
2011: Jennifer M Puck
Neonatal screening for severe combined immunodeficiency.
Current opinion in pediatrics 2011;23(6):667-73.
2011: Alice Chan; Christopher Scalchunes; Marcia Boyle; Jennifer M Puck
Early vs. delayed diagnosis of severe combined immunodeficiency: a family perspective survey.
Clinical immunology (Orlando, Fla.) 2011;138(1):3-8.
2010: Kennichi C Dowdell; Julie E Niemela; Susan Price; Joie Davis; Ronald L Hornung; João Bosco Oliveira; Jennifer M Puck; Elaine S Jaffe; Stefania Pittaluga; Jeffrey I Cohen; Thomas A Fleisher; V Koneti Rao
Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome.
Blood 2010;115(25):5164-9.
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: Lawrence R Shiow; Kenneth Paris; Matthew C Akana; Jason G Cyster; Ricardo U Sorensen; Jennifer M Puck
Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion.
Clinical immunology (Orlando, Fla.) 2009;131(1):24-30.
2008: Lawrence R Shiow; David W Roadcap; Kenneth Paris; Susan R Watson; Irina L Grigorova; Tonya Lebet; Jinping An; Ying Xu; Craig N Jenne; Niko Föger; Ricardo U Sorensen; Christopher C Goodnow; James E Bear; Jennifer M Puck; Jason G Cyster
The actin regulator coronin 1A is mutant in a thymic egress-deficient mouse strain and in a patient with severe combined immunodeficiency.
Nature immunology 2008;9(11):1307-15.
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: Tonya Lebet; Richard Chiles; Amy P Hsu; ES Mansfield; Janet A Warrington; Jennifer M Puck
Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray.
Genetics in medicine : official journal of the American College of Medical Genetics 2008;10(8):575-85.
2008: D L Domingo; Alexandra F Freeman; J Davis; Jennifer M Puck; W Tianxia; Steven M Holland; Thomas Hart
Novel intraoral phenotypes in hyperimmunoglobulin-E syndrome.
Oral diseases 2008;14(1):73-81.
2007: Dietmar Pfeifer; Cristina Woellner; Astrid Petersen; Maria Cristina Pietrogrande; José L Franco; Mehdi Yeganeh; Stephan Ehl; Nuria Matamoros; Eli Sprecher; Jennifer M Puck; Hendrik Veelken; Bodo Grimbacher
The hyper-IgE syndrome is not caused by a microdeletion syndrome.
Immunogenetics 2007;59(12):913-26.
2007: Jennifer M Puck
Neonatal screening for severe combined immune deficiency.
Current opinion in allergy and clinical immunology 2007;7(6):522-7.
2007: V Koneti Rao; Kennichi C Dowdell; Janet K Dale; Faith Dugan; Lesley Pesnicak; Lilia L Bi; Victoria Hoffmann; Scott Penzak; Nilo A Avila; Thomas A Fleisher; Jennifer M Puck; Stephen E Straus
Pyrimethamine treatment does not ameliorate lymphoproliferation or autoimmune disease in MRL/lpr-/- mice or in patients with autoimmune lymphoproliferative syndrome.
American journal of hematology 2007;82(12):1049-55.
2007: Manish J Butte; Charles Haines; Francisco A Bonilla; Jennifer M Puck
IL-7 receptor deficient SCID with a unique intronic mutation and post-transplant autoimmunity due to chronic GVHD.
Clinical immunology (Orlando, Fla.) 2007;125(2):159-64.
2007: Steven M Holland; Frank R DeLeo; Houda Z Elloumi; Amy P Hsu; Gulbu Uzel; Nina Brodsky; Alexandra F Freeman; Andrew Demidowich; Joie Davis; Maria L Turner; Victoria L Anderson; Dirk Darnell; Pamela A Welch; Douglas B Kuhns; David M Frucht; Harry L Malech; John Gallin; Scott D Kobayashi; Adeline R Whitney; Jovanka M Voyich; James M Musser; Cristina Woellner; Alejandro A Schäffer; Jennifer M Puck; Bodo Grimbacher
STAT3 mutations in the hyper-IgE syndrome.
The New England journal of medicine 2007;357(16):1608-19.
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: Jennifer M Puck
Population-based newborn screening for severe combined immunodeficiency: steps toward implementation.
The Journal of allergy and clinical immunology 2007;120(4):760-8.
2007: William T Shearer; Harry L Malech; Jennifer M Puck
Primary immunodeficiency: meeting the challenges.
The Journal of allergy and clinical immunology 2007;120(4):753-5.
2007: Javier Chinen; Joie Davis; Suk See De Ravin; Beverly N Hay; Amy P Hsu; Gilda F Linton; Nora Naumann; Effie Y H Nomicos; Christopher Silvin; Jean Ulrick; Narda L Whiting-Theobald; Harry L Malech; Jennifer M Puck
Gene therapy improves immune function in preadolescents with X-linked severe combined immunodeficiency.
Blood 2007;110(1):67-73.
2007: João B Oliveira; Nicolas Bidère; Julie E Niemela; Lixin Zheng; Keiko Sakai; Cynthia P Nix; Robert L Danner; Jennifer Barb; Peter J Munson; Jennifer M Puck; Janet Dale; Stephen E Straus; Thomas A Fleisher; Michael J Lenardo
NRAS mutation causes a human autoimmune lymphoproliferative syndrome.
Proceedings of the National Academy of Sciences of the United States of America 2007;104(21):8953-8.
2007: Cristina Woellner; Alejandro A Schäffer; Jennifer M Puck; Eleonore D Renner; Constanze Knebel; Steven M Holland; Alessandro Plebani; Bodo Grimbacher
The hyper IgE syndrome and mutations in TYK2.
Immunity 2007;26(5):535; author reply 536.
2007: Alexandra F Freeman; Christina J Collura-Burke; Nicholas Patronas; Lidia Stana Ilcus; Dirk Darnell; Joie Davis; Jennifer M Puck; Steven M Holland
Brain abnormalities in patients with hyperimmunoglobulin E syndrome.
Pediatrics 2007;119(5):e1121-5.
2007: Alexandra F Freeman; David E Kleiner; Hari Nadiminti; Joie Davis; Martha Quezado; Victoria Anderson; Jennifer M Puck; Steven M Holland
Causes of death in hyper-IgE syndrome.
The Journal of allergy and clinical immunology 2007;119(5):1234-40.
2007: Jennifer M Puck
Severe combined immunodeficiency: new advances in diagnosis and treatment.
Immunologic research 2007;38(1-3):64-7.
2007: Lilia L Bi; George Pan; T Prescott Atkinson; Lixin Zheng; Janet K Dale; Christopher Makris; Vishnu Reddy; Jay M McDonald; Richard Siegel; Jennifer M Puck; Michael J Lenardo; Stephen E Straus
Dominant inhibition of Fas ligand-mediated apoptosis due to a heterozygous mutation associated with autoimmune lymphoproliferative syndrome (ALPS) Type Ib.
BMC medical genetics 2007;8():41.
2006: Jennifer M Puck; Fabio Candotti
Lessons from the Wiskott-Aldrich syndrome.
The New England journal of medicine 2006;355(17):1759-61.
2006: Alexandra F Freeman; Joie Davis; Victoria L Anderson; William Barson; Dirk Darnell; Jennifer M Puck; Steven M Holland
Pneumocystis jiroveci infection in patients with hyper-immunoglobulin E syndrome.
Pediatrics 2006;118(4):e1271-5.
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: Jennifer M Puck; Harry L Malech
Gene therapy for immune disorders: good news tempered by bad news.
The Journal of allergy and clinical immunology 2006;117(4):865-9.
2006: Shigui Zhu; Amy P Hsu; Marla M Vacek; Lixin Zheng; Alejandro A Schäffer; Janet K Dale; Joie Davis; Roxanne E Fischer; Stephen E Straus; Donna Boruchov; Frank T Saulsbury; Michael J Lenardo; Jennifer M Puck
Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome.
Human genetics 2006;119(3):284-94.
2006: V Koneti Rao; Jorge Carrasquillo; Janet K Dale; Stephen L Bacharach; Millie Whatley; Faith Dugan; Jean Tretler; Thomas A Fleisher; Jennifer M Puck; Wyndham Wilson; Elaine S Jaffe; Nilo A Avila; Clara C Chen; Stephen E Straus
Fluorodeoxyglucose positron emission tomography (FDG-PET) for monitoring lymphadenopathy in the autoimmune lymphoproliferative syndrome (ALPS).
American journal of hematology 2006;81(2):81-5.
2006: Julie E Niemela; Amy P Hsu; Thomas A Fleisher; Jennifer M Puck
Single nucleotide polymorphisms in the apoptosis receptor gene TNFRSF6.
Molecular and cellular probes 2006;20(1):21-6.
2006: Richard Kellermayer; Amy P Hsu; József Stankovics; Péter Balogh; Kinga Hadzsiev; Agnes Vojcek; László Maródi; Pál Kajtár; György Kosztolányi; Jennifer M Puck
A novel IL2RG mutation associated with maternal T lymphocyte engraftment in a patient with severe combined immunodeficiency.
Journal of human genetics 2006;51(5):495-7.
2006: Marla M Vacek; Alejandro A Schäffer; Joie Davis; Roxanne E Fischer; Janet K Dale; Sharon Adams; Stephen E Straus; Jennifer M Puck
HLA B44 is associated with decreased severity of autoimmune lymphoproliferative syndrome in patients with CD95 defects (ALPS type Ia).
Clinical immunology (Orlando, Fla.) 2006;118(1):59-65.
2005: Irina Maric; Stefania Pittaluga; Janet K Dale; Julie E Niemela; Georges Delsol; Judith Diment; Juan Rosai; Mark Raffeld; Jennifer M Puck; Stephen E Straus; Elaine S Jaffe
Histologic features of sinus histiocytosis with massive lymphadenopathy in patients with autoimmune lymphoproliferative syndrome.
The American journal of surgical pathology 2005;29(7):903-11.
2005: V Koneti Rao; Faith Dugan; Janet K Dale; Joie Davis; Jean Tretler; John K Hurley; Thomas A Fleisher; Jennifer M Puck; Stephen E Straus
Use of mycophenolate mofetil for chronic, refractory immune cytopenias in children with autoimmune lymphoproliferative syndrome.
British journal of haematology 2005;129(4):534-8.
2005: Kee Chan; Jennifer M Puck
Development of population-based newborn screening for severe combined immunodeficiency.
The Journal of allergy and clinical immunology 2005;115(2):391-8.
2005: Bodo Grimbacher; Steven M Holland; Jennifer M Puck
Hyper-IgE syndromes.
Immunological reviews 2005;203():244-50.
2004: Javier Chinen; Jennifer M Puck
Perspectives of gene therapy for primary immunodeficiencies.
Current opinion in allergy and clinical immunology 2004;4(6):523-7.
2004: Patrick Legembre; Bryan C Barnhart; Lixin Zheng; Shrijay Vijayan; Stephen E Straus; Jennifer M Puck; Janet K Dale; Michael J Lenardo; Marcus E Peter
Induction of apoptosis and activation of NF-kappaB by CD95 require different signalling thresholds.
EMBO reports 2004;5(11):1084-9.
2004: Jennifer M Puck; Stephen E Straus
Somatic mutations--not just for cancer anymore.
The New England journal of medicine 2004;351(14):1388-90.
2004: Cheryl Lee D Eberting; Joie Davis; Jennifer M Puck; Steven M Holland; Maria L Turner
Dermatitis and the newborn rash of hyper-IgE syndrome.
Archives of dermatology 2004;140(9):1119-25.
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: Javier Chinen; Jennifer M Puck
Successes and risks of gene therapy in primary immunodeficiencies.
The Journal of allergy and clinical immunology 2004;113(4):595-603; quiz 604.
2004: Christine L Tock; Steven M Holland; Jennifer M Puck; Maria L Turner
A man with distinctive facial features and recurrent pyoderma, pneumonia, and skeletal fractures.
Journal of the American Academy of Dermatology 2004;50(4):627-9.
2004: Hajime Matsuzaki; Halina Loi; Shoulian Dong; Ya-Yu Tsai; Joy Fang; Jane Law; Xiaojun Di; Wei-Min Liu; Geoffrey Yang; Guoying Liu; Jing Huang; Giulia C Kennedy; Thomas B Ryder; Gregory A Marcus; P Sean Walsh; Mark D Shriver; Jennifer M Puck; Keith W Jones; Rui Mei
Parallel genotyping of over 10,000 SNPs using a one-primer assay on a high-density oligonucleotide array.
Genome research 2004;14(3):414-25.
2004: Beverly N Hay; Julie E Martin; Barbara Karp; Joie Davis; Dirk Darnell; Beth Solomon; Maria Turner; Steven M Holland; Jennifer M Puck
Familial immunodeficiency with cutaneous vasculitis, myoclonus, and cognitive impairment.
American journal of medical genetics. Part A 2004;125A(2):145-51.
2004: Laura P Hale; Rebecca H Buckley; Jennifer M Puck; Dhavalkumar D Patel
Abnormal development of thymic dendritic and epithelial cells in human X-linked severe combined immunodeficiency.
Clinical immunology (Orlando, Fla.) 2004;110(1):63-70.
2004: Eleonore D Renner; Jennifer M Puck; Steven M Holland; Markus Schmitt; Michael Weiss; Michael Frosch; Markus Bergmann; Joie Davis; Bernd H Belohradsky; Bodo Grimbacher
Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity.
The Journal of pediatrics 2004;144(1):93-9.
2003: Jennifer M Puck; Shigui Zhu
Immune disorders caused by defects in the caspase cascade.
Current allergy and asthma reports 2003;3(5):378-84.
2003: Max D Cooper; Lewis L Lanier; Mary Ellen Conley; Jennifer M Puck
Immunodeficiency disorders.
Hematology / the Education Program of the American Society of Hematology. American Society of Hematology. Education Program 2003;():314-30.
2002: Hyung J Chun; Lixin Zheng; Manzoor Ahmad; Jin Wang; Christina K Speirs; Richard Siegel; Janet K Dale; Jennifer M Puck; Joie Davis; Craig G Hall; Suzanne Skoda-Smith; T Prescott Atkinson; Stephen E Straus; Michael J Lenardo
Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency.
Nature 2002;419(6905):395-9.
2002: Frederick D Goldman; Rajeev Vibhakar; Jennifer M Puck; Stephen E Straus; Zuhair K Ballas; Clay Hollenback; Thomas Loew; Anthony Thompson; Kejing Song; Robert T Cook
Aberrant T-cell antigen receptor-mediated responses in autoimmune lymphoproliferative syndrome.
Clinical immunology (Orlando, Fla.) 2002;104(1):31-9.
2002: Emily Tsai; Harry L Malech; Martha R Kirby; Amy P Hsu; Nancy E Seidel; Christopher D Porada; Esmail D Zanjani; David M Bodine; Jennifer M Puck
Retroviral transduction of IL2RG into CD34(+) cells from X-linked severe combined immunodeficiency patients permits human T- and B-cell development in sheep chimeras.
Blood 2002;100(1):72-9.
2002: Thomas Licht; Mark E Haskins; Paula S Henthorn; Sandra E Kleiman; David M Bodine; Todd Whitwam; Jennifer M Puck; Michael M Gottesman; John R Melniczek
Drug selection with paclitaxel restores expression of linked IL-2 receptor gamma -chain and multidrug resistance (MDR1) transgenes in canine bone marrow.
Proceedings of the National Academy of Sciences of the United States of America 2002;99(5):3123-8.
2002: Youngnim Choi; Karen Simon-Stoos; Jennifer M Puck
Hypo-active variant of IL-2 and associated decreased T cell activation contribute to impaired apoptosis in autoimmune prone MRL mice.
European journal of immunology 2002;32(3):677-85.
2002: Laurie A Myers; Dhavalkumar D Patel; Jennifer M Puck; Rebecca H Buckley
Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival.
Blood 2002;99(3):872-8.
2001: Jack J H Bleesing; Margaret R Brown; Stephen E Straus; Janet K Dale; Richard Siegel; M Johnson; Michael J Lenardo; Jennifer M Puck; Thomas A Fleisher
Immunophenotypic profiles in families with autoimmune lymphoproliferative syndrome.
Blood 2001;98(8):2466-73.
2001: T Prescott Atkinson; Alejandro A Schäffer; Bodo Grimbacher; Harry Schroeder; Cristina Woellner; C S Zerbe; Jennifer M Puck
An immune defect causing dominant chronic mucocutaneous candidiasis and thyroid disease maps to chromosome 2p in a single family.
American journal of human genetics 2001;69(4):791-803.
2001: Jack J H Bleesing; Margaret R Brown; Janet K Dale; Stephen E Straus; Michael J Lenardo; Jennifer M Puck; T Prescott Atkinson; Thomas A Fleisher
TcR-alpha/beta(+) CD4(-)CD8(-) T cells in humans with the autoimmune lymphoproliferative syndrome express a novel CD45 isoform that is analogous to murine B220 and represents a marker of altered O-glycan biosynthesis.
Clinical immunology (Orlando, Fla.) 2001;100(3):314-24.
2001: Stephen E Straus; Elaine S Jaffe; Jennifer M Puck; Janet K Dale; Keith B Elkon; Angela Rösen-Wolff; A M Peters; michael sneller; Claire W Hallahan; Juehu Wang; Roxanne E Fischer; C M Jackson; Albert Y Lin; Caroline Bäumler; E Siegert; A Marx; AK Vaishnaw; Tamara Grodzicky; Thomas A Fleisher; Michael J Lenardo
The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis.
Blood 2001;98(1):194-200.
2001: Uri Lopatin; X Yao; R K Williams; Jack J H Bleesing; Janet K Dale; D Wong; Julie T Feldstein; S Fritz; M R Morrow; Ivan J Fuss; michael sneller; M Raffeld; Thomas A Fleisher; Jennifer M Puck; W Strober; E S Jaffe; Stephen E Straus
Increases in circulating and lymphoid tissue interleukin-10 in autoimmune lymphoproliferative syndrome are associated with disease expression.
Blood 2001;97(10):3161-70.
2001: G J Avilés Mendoza; Nancy E Seidel; Makoto Otsu; Stacie M Anderson; Karen Simon-Stoos; A Herrera; S Hoogstraten-Miller; Harry L Malech; Fabio Candotti; Jennifer M Puck; David M Bodine
Comparison of five retrovirus vectors containing the human IL-2 receptor gamma chain gene for their ability to restore T and B lymphocytes in the X-linked severe combined immunodeficiency mouse model.
Molecular therapy : the journal of the American Society of Gene Therapy 2001;3(4):565-73.
2001: Thomas A Fleisher; Jennifer M Puck; W Strober; Janet K Dale; Michael J Lenardo; Richard Siegel; Stephen E Straus; Jack J H Bleesing
The autoimmune lymphoproliferative syndrome. A disorder of human lymphocyte apoptosis.
Clinical reviews in allergy & immunology 2001;20(1):109-20.
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: Julie E Niemela; Jennifer M Puck; Roxanne E Fischer; Thomas A Fleisher; Amy P Hsu
Efficient detection of thirty-seven new IL2RG mutations in human X-linked severe combined immunodeficiency.
Clinical immunology (Orlando, Fla.) 2000;95(1 Pt 1):33-8.
2000: Makoto Otsu; Stacie M Anderson; David M Bodine; Jennifer M Puck; John O'Shea; Fabio Candotti
Lymphoid development and function in X-linked severe combined immunodeficiency mice after stem cell gene therapy.
Molecular therapy : the journal of the American Society of Gene Therapy 2000;1(2):145-53.
1999: C E Jackson; Jennifer M Puck
Autoimmune lymphoproliferative syndrome, a disorder of apoptosis.
Current opinion in pediatrics 1999;11(6):521-7.
1999: Youngnim Choi; V R Ramnath; AS Eaton; A Chen; Karen Simon-Stoos; D E Kleiner; J Erikson; Jennifer M Puck
Expression in transgenic mice of dominant interfering Fas mutations: a model for human autoimmune lymphoproliferative syndrome.
Clinical immunology (Orlando, Fla.) 1999;93(1):34-45.
1999: Bodo Grimbacher; Alejandro A Schäffer; Steven M Holland; Joie Davis; John Gallin; Harry L Malech; T P Atkinson; Bernd H Belohradsky; Rebecca H Buckley; F Cossu; T Español; B Z Garty; Nuria Matamoros; Laurie A Myers; Robert P Nelson; H D Ochs; E D Renner; N Wellinghausen; Jennifer M Puck
Genetic linkage of hyper-IgE syndrome to chromosome 4.
American journal of human genetics 1999;65(3):735-44.
1999: Juehu Wang; Lixin Zheng; Adrian A Lobito; Francis Ka-Ming Chan; Janet Dale; M Sneller; X Yao; Jennifer M Puck; Stephen E Straus; Michael J Lenardo
Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II.
Cell 1999;98(1):47-58.
1999: Bodo Grimbacher; Amalia Dutra; Steven M Holland; Roxanne E Fischer; MARYLAND PAO; John Gallin; Jennifer M Puck
Analphoid marker chromosome in a patient with hyper-IgE syndrome, autism, and mild mental retardation.
Genetics in medicine : official journal of the American College of Medical Genetics 1999;1(5):213-8.
1999: Nilo A Avila; Andrew J Dwyer; Janet K Dale; Uri Lopatin; michael sneller; E S Jaffe; Jennifer M Puck; Stephen E Straus
Autoimmune lymphoproliferative syndrome: a syndrome associated with inherited genetic defects that impair lymphocytic apoptosis--CT and US features.
Radiology 1999;212(1):257-63.
1999: Todd Whitwam; Mark E Haskins; Paula S Henthorn; David M Bodine; Jennifer M Puck
Canine lymphocyte expression of retrovirally transferred human common gamma chain.
Annals of the New York Academy of Sciences 1999;872():387-90.
1999: DA Martin; Lixin Zheng; Richard Siegel; B Huang; Galen H Fisher; Juehu Wang; CE Jackson; Jennifer M Puck; J Dale; Stephen E Straus; M E Peter; P H Krammer; S Fesik; Michael J Lenardo
Defective CD95/APO-1/Fas signal complex formation in the human autoimmune lymphoproliferative syndrome, type Ia.
Proceedings of the National Academy of Sciences of the United States of America 1999;96(8):4552-7.
1999: Stephen E Straus; michael sneller; Michael J Lenardo; Jennifer M Puck; Warren Strober
An inherited disorder of lymphocyte apoptosis: the autoimmune lymphoproliferative syndrome.
Annals of internal medicine 1999;130(7):591-601.
1999: CE Jackson; Roxanne E Fischer; Amy P Hsu; Stacie M Anderson; Y Choi; Juehu Wang; Janet K Dale; Thomas A Fleisher; Lindsay Middelton; michael sneller; Michael J Lenardo; Stephen E Straus; Jennifer M Puck
Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance.
American journal of human genetics 1999;64(4):1002-14.
1999: Bodo Grimbacher; Steven M Holland; John Gallin; F Greenberg; S C Hill; Harry L Malech; J A Miller; A C O'Connell; Jennifer M Puck
Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder.
The New England journal of medicine 1999;340(9):692-702.
1998: Anthony Infante; H A Britton; Thomas S DeNapoli; Lindsay Middelton; Michael J Lenardo; CE Jackson; Juehu Wang; Thomas A Fleisher; Stephen E Straus; Jennifer M Puck
The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis.
The Journal of pediatrics 1998;133(5):629-33.
1998: Megan S Lim; Stephen E Straus; Janet K Dale; Thomas A Fleisher; Maryalice Stetler-Stevenson; W Strober; michael sneller; Jennifer M Puck; Michael J Lenardo; Kojo Seys John Elenitoba-Johnson; Albert Y Lin; Mark Raffeld; Elaine S Jaffe
Pathological findings in human autoimmune lymphoproliferative syndrome.
The American journal of pathology 1998;153(5):1541-50.
1998: Todd Whitwam; Mark E Haskins; Paula S Henthorn; J N Kraszewski; Sandra E Kleiman; Nancy E Seidel; David M Bodine; Jennifer M Puck
Retroviral marking of canine bone marrow: long-term, high-level expression of human interleukin-2 receptor common gamma chain in canine lymphocytes.
Blood 1998;92(5):1565-75.
1998: Sandra E Kleiman; Ira Pastan; Jennifer M Puck; Michael M Gottesman
Characterization of an MDR1 retroviral bicistronic vector for correction of X-linked severe combined immunodeficiency.
Gene therapy 1998;5(5):671-6.
1998: Bodo Grimbacher; Steven M Holland; Jennifer M Puck
The interleukin-4 receptor variant Q576R in hyper-IgE syndrome.
The New England journal of medicine 1998;338(15):1073-4.
1997: Jennifer M Puck; Lindsay Middelton; AE Pepper
Carrier and prenatal diagnosis of X-linked severe combined immunodeficiency: mutation detection methods and utilization.
Human genetics 1997;99(5):628-33.
1997: Jennifer M Puck; AE Pepper; Paula S Henthorn; Fabio Candotti; J Isakov; Todd Whitwam; Mary Ellen Conley; Roxanne E Fischer; Howard M Rosenblatt; Trudy N Small; Rebecca H Buckley
Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency.
Blood 1997;89(6):1968-77.
1997: Donald Orlic; LJ Girard; D Lee; Stacie M Anderson; Jennifer M Puck; David M Bodine
Interleukin-7R alpha mRNA expression increases as stem cells differentiate into T and B lymphocyte progenitors.
Experimental hematology 1997;25(3):217-22.
1997: Rebecca H Buckley; RI Schiff; SE Schiff; M Louise Markert; Larry W Williams; TO Harville; Joseph L Roberts; Jennifer M Puck
Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants.
The Journal of pediatrics 1997;130(3):378-87.
1997: Ivan J Fuss; Warren Strober; Janet K Dale; S Fritz; GR Pearlstein; Jennifer M Puck; M J Lenardo; S E Straus
Characteristic T helper 2 T cell cytokine abnormalities in autoimmune lymphoproliferative syndrome, a syndrome marked by defective apoptosis and humoral autoimmunity.
Journal of immunology (Baltimore, Md. : 1950) 1997;158(4):1912-8.
1997: michael sneller; Juehu Wang; Janet K Dale; W Strober; Lindsay Middelton; Y Choi; Thomas A Fleisher; Megan S Lim; E S Jaffe; Jennifer M Puck; Michael J Lenardo; Stephen E Straus
Clincal, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis.
Blood 1997;89(4):1341-8.
1997: AS O'Marcaigh; Jennifer M Puck; AE Pepper; K De Santes; Morton J Cowan
Maternal mosaicism for a novel interleukin-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency in a Navajo kindred.
Journal of clinical immunology 1997;17(1):29-33.
1996: P K Kim; Amalia Dutra; S C Chandrasekharappa; Jennifer M Puck
Genomic structure and mapping of human FADD, an intracellular mediator of lymphocyte apoptosis.
Journal of immunology (Baltimore, Md. : 1950) 1996;157(12):5461-6.
1996: SY Lai; J Molden; Kathleen D Liu; Jennifer M Puck; M D White; Mark A Goldsmith
Interleukin-4-specific signal transduction events are driven by homotypic interactions of the interleukin-4 receptor alpha subunit.
The EMBO journal 1996;15(17):4506-14.
1996: Fabio Candotti; JA Johnston; Jennifer M Puck; K Sugamura; John O'Shea; R. Michael Blaese
Retroviral-mediated gene correction for X-linked severe combined immunodeficiency.
Blood 1996;87(8):3097-102.
1996: Amalia Dutra; E Mignot; Jennifer M Puck
Gene localization and syntenic mapping by FISH in the dog.
Cytogenetics and cell genetics 1996;74(1-2):113-7.
1995: C Tassara; A E Pepper; Jennifer M Puck
Intronic point mutation in the IL2RG gene causing X-linked severe combined immunodeficiency.
Human molecular genetics 1995;4(9):1693-5.
1995: A E Pepper; R H Buckley; Trudy N Small; Jennifer M Puck
Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency.
American journal of human genetics 1995;57(3):564-71.
1995: Galen H Fisher; F J Rosenberg; Stephen E Straus; Janet K Dale; L A Middleton; Albert Y Lin; W Strober; Michael J Lenardo; Jennifer M Puck
Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome.
Cell 1995;81(6):935-46.
1995: Jennifer M Puck; A E Pepper; P M Bédard; R Laframboise
Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency.
The Journal of clinical investigation 1995;95(2):895-9.
1994: Paula S Henthorn; RL Somberg; V M Fimiani; Jennifer M Puck; Donald F Patterson; Peter J Felsburg
IL-2R gamma gene microdeletion demonstrates that canine X-linked severe combined immunodeficiency is a homologue of the human disease.
Genomics 1994;23(1):69-74.
1994: S M Deschênes; Jennifer M Puck; Amalia Dutra; RL Somberg; Peter J Felsburg; Paula S Henthorn
Comparative mapping of canine and human proximal Xq and genetic analysis of canine X-linked severe combined immunodeficiency.
Genomics 1994;23(1):62-8.
1994: Pasi A Janne; Amalia Dutra; N C Dracopoli; L R Charnas; Jennifer M Puck; Robert L Nussbaum
Localization of the 75-kDa inositol polyphosphate-5-phosphatase (INPP5B) to human chromosome band 1p34.
Cytogenetics and cell genetics 1994;66(3):164-6.
1993: Jennifer M Puck; S M Deschênes; J C Porter; Amalia Dutra; C J Brown; H F Willard; Paula S Henthorn
The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1.
Human molecular genetics 1993;2(8):1099-104.
1993: Jennifer M Puck; M E Conley; L C Bailey
Refinement of linkage of human severe combined immunodeficiency (SCIDX1) to polymorphic markers in Xq13.
American journal of human genetics 1993;53(1):176-84.
1993: Bruce P Himelstein; Jennifer M Puck; C August; G Pierson; Nancy Bunin
T-cell-depleted maternal bone marrow transplantation for siblings with X-linked severe combined immunodeficiency.
The Journal of pediatrics 1993;122(2):289-91.
1993: Jennifer M Puck
Prenatal diagnosis and genetic analysis of X-linked immunodeficiency disorders.
Pediatric research 1993;33(1 Suppl):S29-33; discussion S33-4.
1993: J C Porter; K T Ram; Jennifer M Puck
Twelve new polymorphic microsatellites on human chromosome 22.
Genomics 1993;15(1):57-61.
1993: Jennifer M Puck
X-linked immunodeficiencies.
Advances in human genetics 1993;21():107-44.
1991: Paula S Henthorn; C C Stewart; Tom Kadesch; Jennifer M Puck
The gene encoding human TFE3, a transcription factor that binds the immunoglobulin heavy-chain enhancer, maps to Xp11.22.
Genomics 1991;11(2):374-8.
1990: David G Hicks; Virginia A LiVolsi; Julie Neidich; Jennifer M Puck; J A Kant
Clonal analysis of solitary follicular nodules in the thyroid.
The American journal of pathology 1990;137(3):553-62.
1990: Jennifer M Puck; K A Siminovitch; Mortimer Poncz; C R Greenberg; M Rottem; M E Conley
Atypical presentation of Wiskott-Aldrich syndrome: diagnosis in two unrelated males based on studies of maternal T cell X chromosome inactivation.
Blood 1990;75(12):2369-74.
1990: Julie Neidich; Robert L Nussbaum; R J Packer; Beverly S Emanuel; Jennifer M Puck
Heterogeneity of clinical severity and molecular lesions in Aicardi syndrome.
The Journal of pediatrics 1990;116(6):911-7.
1990: M E Conley; J L Sullivan; Julie Neidich; Jennifer M Puck
X chromosome inactivation patterns in obligate carriers of X-linked lymphoproliferative syndrome.
Clinical immunology and immunopathology 1990;55(3):486-91.
1990: Jennifer M Puck; C M Krauss; S M Puck; R H Buckley; M E Conley
Prenatal test for X-linked severe combined immunodeficiency by analysis of maternal X-chromosome inactivation and linkage analysis.
The New England journal of medicine 1990;322(15):1063-6.
1988: M E Conley; Jennifer M Puck
Definition of the gene loci in X-linked immunodeficiencies.
Immunological investigations 1988;17(5):425-63.
1988: M E Conley; A Lavoie; C Briggs; P Brown; C Guerra; Jennifer M Puck
Nonrandom X chromosome inactivation in B cells from carriers of X chromosome-linked severe combined immunodeficiency.
Proceedings of the National Academy of Sciences of the United States of America 1988;85(9):3090-4.
1988: M E Conley; Jennifer M Puck
Carrier detection in typical and atypical X-linked agammaglobulinemia.
The Journal of pediatrics 1988;112(5):688-94.