Jennifer Puck, MD
|School||UCSF School of Medicine|
|Address||513 Parnassus Ave|
San Francisco CA 94143
Jennifer Puck, MD, came to UCSF in 2006 as Professor of Immunology in the Department of Pediatrics and Medical Director of the Pediatric Clinical Research Center in the UCSF Clinical and Translational Research Institute's Clinical Research Services Division. Dr. Puck’s research is in human primary immunodeficiencies. Her scientific contributions include mapping and identification of the genes for X-linked severe combined immunodeficiency (XSCID) and autoimmune lymphoproliferative syndrome (ALPS); a clinical trial of retroviral gene therapy for patients with XSCID who failed bone marrow transplantation; and definition of the disease and gene defects in STAT3 in hyper-IgE syndrome, or Job syndrome, a multisystem disorder. On the translational side, she has developed a test to screen all newborns for severe lymphocyte disorders based on detecting T cell receptor excision circles (TRECs), byproducts of normal T lymphocyte receptor rearrangement. The TREC test is now part of the standard newborn screening panel in several states, including California, where Dr. Puck works with the Department of Public Health to identify, diagnose and treat infants with abnormal TREC screens in our large and diverse population. Dr. Puck also uses mouse models to probe lymphocyte development and is investigating a new gene identified by her lab that when knocked out results in arrest of T cell development from common lymphoid precursors.
Inherited disorders of the immune system, severe combined immunodeficiency, lymphocyte development, whole exome sequencing
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