J
Jennifer M. Puck
Researcher at University of California, San Francisco
Publications - 367
Citations - 33620
Jennifer M. Puck is an academic researcher from University of California, San Francisco. The author has contributed to research in topics: Severe combined immunodeficiency & Primary immunodeficiency. The author has an hindex of 89, co-authored 342 publications receiving 29826 citations. Previous affiliations of Jennifer M. Puck include Howard Hughes Medical Institute & University of Pennsylvania.
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Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome
Galen H. Fisher,Fredric J Rosenberg,Sharon E. Straus,Janet K. Dale,Lindsay A. Middelton,Albert Y. Lin,Warren Strober,Michael J. Lenardo,Jennifer M. Puck +8 more
TL;DR: The occurrence of Fas mutations together with abnormal T cell apoptosis in ALPS patients suggests an involvement of Fas in this recently recognized disorder of lymphocyte homeostasis and peripheral self-tolerance.
Journal ArticleDOI
STAT3 Mutations in the Hyper-IgE Syndrome
Steven M. Holland,Frank R. DeLeo,Houda Elloumi,Amy P. Hsu,Gulbu Uzel,Nina N. Brodsky,Alexandra F. Freeman,Andrew P. Demidowich,Joie Davis,Maria L. Turner,Victoria L. Anderson,Dirk Darnell,Pamela Welch,Douglas B. Kuhns,David M. Frucht,Harry L. Malech,John I. Gallin,Scott D. Kobayashi,Adeline R. Whitney,Jovanka M. Voyich,James M. Musser,Cristina Woellner,Alejandro A. Schäffer,Jennifer M. Puck,Bodo Grimbacher +24 more
TL;DR: Mutations in STAT3 underlie sporadic and dominant forms of the hyper-IgE syndrome, an immunodeficiency syndrome involving increased innate immune response, recurrent infections, and complex somatic features.
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Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency
Waleed Al-Herz,Aziz Bousfiha,Jean-Laurent Casanova,Jean-Laurent Casanova,Helen Chapel,Mary Ellen Conley,Mary Ellen Conley,Charlotte Cunningham-Rundles,Amos Etzioni,Alain Fischer,José Luis Franco,Raif S. Geha,Lennart Hammarström,Shigeaki Nonoyama,Luigi D. Notarangelo,Luigi D. Notarangelo,Hans D. Ochs,Jennifer M. Puck,Chaim M. Roifman,Reinhard Seger,Mimi L.K. Tang,Mimi L.K. Tang +21 more
TL;DR: The updated classification of primary immunodeficiencies (PIDs) compiled by the Expert Committee of the International Union of Immunological Societies acts as a current reference of the knowledge of these conditions and is an important aid for the molecular diagnosis of patients with these rare diseases.
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Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee
Stuart G. Tangye,Waleed Al-Herz,Aziz Bousfiha,Talal A. Chatila,Charlotte Cunningham-Rundles,Amos Etzioni,José Luis Franco,Steven M. Holland,Christoph Klein,Tomohiro Morio,Hans D. Ochs,Eric Oksenhendler,Capucine Picard,Jennifer M. Puck,Troy R. Torgerson,Jean-Laurent Casanova,Kathleen E. Sullivan +16 more
TL;DR: This report documents the key clinical and laboratory features of 430 inborn errors of immunity, including 64 gene defects that have either been discovered in the past 2 years since the previous update (published January 2018) or were characterized earlier but have since been confirmed or expanded upon in subsequent studies.
Journal ArticleDOI
Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015
Capucine Picard,Waleed Al-Herz,Aziz Bousfiha,Jean-Laurent Casanova,Talal A. Chatila,Mary Ellen Conley,Charlotte Cunningham-Rundles,Amos Etzioni,Steven M. Holland,Christoph Klein,Shigeaki Nonoyama,Hans D. Ochs,Eric Oksenhendler,Jennifer M. Puck,Kathleen E. Sullivan,Mimi L.K. Tang,Mimi L.K. Tang,José Luis Franco,H. Bobby Gaspar +18 more
TL;DR: The most up-to-date catalogue of all known and published primary immunodeficiencies and acts as a current reference of the knowledge of these conditions and is an important aid for the genetic and molecular diagnosis of patients with these rare diseases.