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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Diagnostic assay to assist clinical decisions for unclassified severe combined immune deficiency.
Panojot Bifsha,Jennifer W. Leiding,Sung-Yun Pai,Sung-Yun Pai,Aurelien B. L. Colamartino,Nicholas L. Hartog,Nicholas L. Hartog,Joseph A. Church,Benjamin Oshrine,Jennifer M. Puck,Jennifer M. Puck,M. Louise Markert,Elie Haddad +12 more
TL;DR: 3D organoid T-cell differentiation from a few hundred peripheral blood CD34+ cells was successfully achieved and could help physicians distinguish intrinsic from extrinsic defects underlying a clinical SCID phenotype.
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Nijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs).
Jay P. Patel,Jennifer M. Puck,Rajgopal Srinivasan,Christina Brown,Uma Sunderam,Kunal Kundu,Steven E. Brenner,Richard A. Gatti,Joseph A. Church +8 more
TL;DR: An infant with low TRECs and non-SCID T lymphopenia is reported, who proved upon whole exome sequencing to have Nijmegen breakage syndrome (NBS), making possible a diagnosis of NBS, genetic counseling, and early intervention to minimize complications.
Journal ArticleDOI
Newborn Screening for Severe Combined Immunodeficiency in the United States: Lessons Learned.
Morna J. Dorsey,Jennifer M. Puck +1 more
TL;DR: In the United States, significant improvement in diagnosis and outcomes for children affected with severe combined immunodeficiency has followed institution of newborn screening using an assay to measure T-cell receptor excision circles in newborn dried blood spot specimens.
Journal ArticleDOI
Fluorodeoxyglucose positron emission tomography (FDG-PET) for monitoring lymphadenopathy in the autoimmune lymphoproliferative syndrome (ALPS).
V. Koneti Rao,Jorge A. Carrasquillo,Janet K. Dale,Stephen L. Bacharach,Millie Whatley,Faith Dugan,Jean Tretler,Thomas A. Fleisher,Jennifer M. Puck,Wyndham H. Wilson,Elaine S. Jaffe,Nilo A. Avila,Clara C. Chen,Sharon E. Straus +13 more
TL;DR: It is reported that FDG avidity of benign lymph nodes in ALPS can be high and, hence, by itself does not imply presence of lymphoma; but FDG‐PET can help guide the decision for selecting which of many enlarged nodes in AlPS patients to biopsy when lymphoma is suspected.