Description of Research

Jennifer Puck, MD, came to UCSF in 2006 as Professor of Pediatrics in the Division of Immunology and Rheumatology and Associate Program Director for Pediatrics in the CTSI Clinical Research Center. Dr. Puck¹s 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's syndrome, a multisystem disorder. On the translational side, she has developed a test to screen all newborns for severe lymphocyte disorders and is planning a large pilot trial. 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 presursors.

Ochs H, Smith CIE, Puck JM, eds. Primary Immunodeficiency Diseases, A Molecular and Genetic Approach. NY: Oxford Univ Press. Second edition, 2007.

Chan K, Puck J. Development of population­based newborn screening for severe combined immunodeficiency. J Allergy Clin Immunol 115:391-398, 2005.

Vacek MM, Schäffer AA, Davis J, Fischer RE, Dale JK, Straus SE, Puck JM. HLA B44 is associated with decreased severity of autoimmune lymphoproliferative syndrome in patients with CD95 mutations (ALPS Ia). Clin Immunol 118:59-65, 2006.

Zhu S, Hsu AP, Vacek MM, Zheng L-X, Schäffer AA, Dale JK, Davis J, Fischer RE, Straus SE, Boruchov D, Saulsbury FT, Lenardo MJ, Puck JM. Genetic alterations in caspase-10 can be causative or protective in autoimmune lymphoproliferative syndrome. Hum Genet 119:284-294, 2006.

Chinen J, Davis J, DeRavin SS, Hay BN, Hsu AP, Linton G, Naumann N, Nomicos EY, Silvin C, Ulrick J, Whiting-Theobald N, Malech HL, Puck JM. Gene therapy improves immune function in pre-adolescents with X-linked severe combined immunodeficiency. Blood 110:67-73, 2007.

Oliveira JB, Bidère N, Niemela J, Zheng LX, Sakai K, Puro C, Danner R, Barb J, Munson P, Puck J, Dale J, Straus S, Fleisher TA, Lenardo MJ. NRAS mutation in Autoimmune Lymphoproliferative Syndrome with Lymphoid Malignancy. Proc. Natl. Acad. Sci. USA, in press, 2007.

Butte MJ, Haines C, Bonilla FA, Puck JM. IL-7 receptor deficient SCID with a unique intronic mutation and post-transplant autoimmunity. In press, Clin Immunol, 2007.

Holland SM, Frank R. DeLeo FR, Elloumi HZ, Hsu AP, Uzel G, Brodsky N, Freeman AF, Demidowich A, Davis J, Turner ML, Anderson VL, Darnell DN, Welch P, Kuhns DB, Malech HL, Gallin JI, Kobayashi SD, Whitney AR, Voyich JM, Musser JM, Woellner C, Schäffer AA, Puck JM*, Grimbacher B*. STAT3 Mutations in hyper IgE recurrent infection syndrome (HIES). In press 2007. [*co-senior authors]

The Working Group for Newborn Screening for SCID, Puck JM. Development of population-based newborn screening for SCID. J Allergy Clin Immunol, 2007, In Press.