Jennifer M. Puck, MD

Jennifer M. Puck, MD

Professor, Departments of Immunology and Pediatrics, UCSF

Phone: (415) 476-3181 (voice)
Box 0519, UCSF
San Francisco, CA 94143-0519

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Cancer Center Membership

Associate Member » Hematopoietic Malignancies» Pediatric Malignancies

Research Summary

Dr. Puck earned her undergraduate and medical degrees at Harvard University and Harvard Medical School, after which she completed clinical and research training in pediatrics, infectious diseases and immunology at Washington University in St. Louis, Missouri, and Baylor College of Medicine in Houston, Texas. After serving on the faculties of the University of Pennsylvania in Philadelphia and the National Human Genome Research Institute, NIH, in Bethesda, Maryland, she joined UCSF in 2006 as Professor of Pediatrics. In addition to caring for patients as an immunologist and teaching biomedical trainees at all levels, Dr. Puck has a basic and translational research program that focuses on human immune disorders as well as mouse models of lymphocyte development. Dr. Puck has used genetic and genomic technology as well as cellular immunology to study the basis of impaired lymphocyte development as well as immune dysregulation. She has published over 165 peer reviewed research papers in addition to over 90 chapters and reviews; she is co-editor of Primary Immunodeficiencies: A Molecular and Genetic Approach, published in its 3rd edition in 2014.

Noting the advantages in survival and outcome for infants with severe combined immunodeficiency (SCID) after diagnosis and treatment early in life, Dr. Puck conceived and developed a newborn screening test that uses the universally collected dried blood spots to detect SCID. DNA extracted from the blood spots is assayed by PCR to quantitate T cell receptor excision circles (TRECs), a biomarker for the generation of a normal, diverse repertoire of T cells. Absent or low TRECs suggest SCID. This testing, now part of the standard newborn screening panel in over half of the states in the US and a growing number of countries, allows infants affected with SCID and other conditions with insufficient T cells to be detected early and treated.

Dr. Puck directs the UCSF Jeffrey Modell Diagnostic Center for Primary Immunodeficiencies. She serves on the Medical Advisory Committee of the Immune Deficiency Foundation, the Committee on Primary Immunodeficiency Disease of the International Union of Immunological Societies, the Board of Scientific Councilors of NIAID, and the Steering Committees of the Primary Immune Deficiency Treatment Consortium (PIDTC) and the US Immunodeficiency Network (USIDNET). She has been elected to the American Society of Clinical Investigation (ASCI), Society for Pediatric Research (SPR), Association of American Physicians (AAP), American Pediatric Society (APS) and Institute of Medicine (IOM). She received the Abbot Award in Clinical and Diagnostic Immunology from the American Society of Microbiology in 2013 and the Colonel Harlan Sanders Award for Lifetime Achievement in Genetics from the March of Dimes in 2014.


Harvard University, Cambridge, MA, BA cum laude, 1971, Biochemistry
Harvard Medical School, Boston, MA, (Harvard-MIT Program in Health Sciences & Technology), MD, 1975, Medicine

Professional Experience

  • 1975-78
    Pediatric Resident, Infectious Diseases Fellow, St. Louis Children's Hosp., Wash. U, St. Louis, MO
  • 1978-81
    Pediatric Infectious Diseases and Immunology Fellowships: Influenza Research Center and Depts. of Pediatrics and Microbiology, Baylor College of Medicine, Houston, TX
  • 1981-84
    Instructor, Dept. of Pediatrics and Microbiology/Immunology, Baylor College of Medicine
  • 1984-91
    Assistant Professor, Dept. of Pediatrics, Univ. of Pennsylvania Sch. of Medicine, Philadelphia, PA
  • 1991-93
    Associate Professor, Depts. of Pediatrics and Human Genetics, Univ. of PA, Philadelphia, PA
  • 1993-2006
    Senior Staff Physician, W. G. Magnusen Clinical Center, NIH, Bethesda, MD
  • 1993-2006
    Head, Immunologic Disease Section, National Human Genome Research Inst (NHGRI), NIH
  • 1994-97
    Associate Chief, Laboratory for Gene Transfer, NHGRI, NIH
  • 1997-2006
    Chief, Genetics and Molecular Biology Branch, NHGRI, NIH
  • 1998-2006
    Director, CLIA Certified Molecular Diagnostic Laboratory in Immunologic Genetics, ID#21D0940018
  • 2006-present
    Professor of Immunology, Dept. of Pediatrics, UCSF, San Francisco
  • 2006-present
    Assoc. Program Director, Pediatrics Clinical Research Center, Clinical & Translational Sciences Inst., UCSF
  • 2006-present
    Investigator, Institute for Human Genetics, UCSF

Honors & Awards

  • 1984-89
    Physician Scientist Award, NIH
  • 1986-89
    Ethyl Brown Foerderer Scholar, Children's Hospital of Philadelphia
  • 1991
    Election to Society for Pediatric Research
  • 1992
    Election to American Society for Clinical Investigation
  • 1997
    Election to Association of American Physicians
  • 1998
    NHGRI Director's Award for Studies Defining Autoimmune Lymphoproliferative Syndrome
  • 1995, 97, 98, 99
    NHGRI Director's Awards for Scientific Achievement and Outstanding Service
  • 2001
    Election to Committee on Primary Immunodeficiency Disease, IUIS

Selected Publications

  1. Walter JE, Rosen LB, Csomos K, Rosenberg JM, Mathew D, Keszei M, Ujhazi B, Chen K, Lee YN, Tirosh I, Dobbs K, Al-Herz W, Cowan MJ, Puck J, Bleesing JJ, Grimley MS, Malech H, De Ravin SS, Gennery AR, Abraham RS, Joshi AY, Boyce TG, Butte MJ, Nadeau KC, Balboni I, Sullivan KE, Akhter J, Adeli M, El-Feky RA, El-Ghoneimy DH, Dbaibo G, Wakim R, Azzari C, Palma P, Cancrini C, Capuder K, Condino-Neto A, Costa-Carvalho BT, Oliveira JB, Roifman C, Buchbinder D, Kumanovics A, Franco JL, Niehues T, Schuetz C, Kuijpers T, Yee C, Chou J, Masaad MJ, Geha R, Uzel G, Gelman R, Holland SM, Recher M, Utz PJ, Browne SK, Notarangelo LD. Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency. J Clin Invest. 2015 Nov 2; 125(11):4135-48.
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  2. Ahmed A, Reith W, Puck JM, Cheng LE. Novel Mutation in the Class II Transactivator Associated with Immunodeficiency and Autoimmunity. J Clin Immunol. 2015 Aug; 35(6):521-2.
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  3. Hsu AP, Pittaluga S, Martinez B, Rump AP, Raffeld M, Uzel G, Puck JM, Freeman AF, Holland SM. IL2RG Reversion Event in a Common Lymphoid Progenitor Leads to Delayed Diagnosis and Milder Phenotype. J Clin Immunol. 2015 Jul; 35(5):449-53.
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  4. Kwan A, Puck JM. History and current status of newborn screening for severe combined immunodeficiency. Semin Perinatol. 2015 Apr; 39(3):194-205.
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  5. Baltimore D, Berg P, Botchan M, Carroll D, Charo RA, Church G, Corn JE, Daley GQ, Doudna JA, Fenner M, Greely HT, Jinek M, Martin GS, Penhoet E, Puck J, Sternberg SH, Weissman JS, Yamamoto KR. Biotechnology. A prudent path forward for genomic engineering and germline gene modification. Science. 2015 Apr 3; 348(6230):36-8.
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  6. Kwan A, Hu D, Song M, Gomes H, Brown DR, Bourque T, Gonzalez-Espinosa D, Lin Z, Cowan MJ, Puck JM. Successful newborn screening for SCID in the Navajo Nation. Clin Immunol. 2015 May; 158(1):29-34.
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  7. Patel JP, Puck JM, Srinivasan R, Brown C, Sunderam U, Kundu K, Brenner SE, Gatti RA, Church JA. Nijmegen Breakage Syndrome Detected by Newborn Screening for T Cell Receptor Excision Circles (TRECs). J Clin Immunol. 2015 Feb; 35(2):227-33.
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  8. Punwani D, Pelz B, Yu J, Arva NC, Schafernak K, Kondratowicz K, Makhija M, Puck JM. Coronin-1A: Immune Deficiency in Humans and Mice. J Clin Immunol. 2015 Feb; 35(2):100-7.
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  9. Punwani D, Wang H, Chan AY, Cowan MJ, Mallott J, Sunderam U, Mollenauer M, Srinivasan R, Brenner SE, Mulder A, Claas FH, Weiss A, Puck JM. Combined Immunodeficiency Due to MALT1 Mutations, Treated by Hematopoietic Cell Transplantation. J Clin Immunol. 2015 Feb; 35(2):135-46.
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  10. Kwan A, Abraham RS, Currier R, Brower A, Andruszewski K, Abbott JK, Baker M, Ballow M, Bartoshesky LE, Bonilla FA, Brokopp C, Brooks E, Caggana M, Celestin J, Church JA, Comeau AM, Connelly JA, Cowan MJ, Cunningham-Rundles C, Dasu T, Dave N, De La Morena MT, Duffner U, Fong CT, Forbes L, Freedenberg D, Gelfand EW, Hale JE, Hanson IC, Hay BN, Hu D, Infante A, Johnson D, Kapoor N, Kay DM, Kohn DB, Lee R, Lehman H, Lin Z, Lorey F, Abdel-Mageed A, Manning A, McGhee S, Moore TB, Naides SJ, Notarangelo LD, Orange JS, Pai SY, Porteus M, Rodriguez R, Romberg N, Routes J, Ruehle M, Rubenstein A, Saavedra-Matiz CA, Scott G, Scott PM, Secord E, Seroogy C, Shearer WT, Siegel S, Silvers SK, Stiehm ER, Sugerman RW, Sullivan JL, Tanksley S, Tierce ML, Verbsky J, Vogel B, Walker R, Walkovich K, Walter JE, Wasserman RL, Watson MS, Weinberg GA, Weiner LB, Wood H, Yates AB, Puck JM. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA. 2014 Aug 20; 312(7):729-38.
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  11. Pai SY, Logan BR, Griffith LM, Buckley RH, Parrott RE, Dvorak CC, Kapoor N, Hanson IC, Filipovich AH, Jyonouchi S, Sullivan KE, Small TN, Burroughs L, Skoda-Smith S, Haight AE, Grizzle A, Pulsipher MA, Chan KW, Fuleihan RL, Haddad E, Loechelt B, Aquino VM, Gillio A, Davis J, Knutsen A, Smith AR, Moore TB, Schroeder ML, Goldman FD, Connelly JA, Porteus MH, Xiang Q, Shearer WT, Fleisher TA, Kohn DB, Puck JM, Notarangelo LD, Cowan MJ, O'Reilly RJ. Transplantation outcomes for severe combined immunodeficiency, 2000-2009. N Engl J Med. 2014 Jul 31; 371(5):434-46.
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  12. Dvorak CC, Horn BN, Puck JM, Adams S, Veys P, Czechowicz A, Cowan MJ. A trial of alemtuzumab adjunctive therapy in allogeneic hematopoietic cell transplantation with minimal conditioning for severe combined immunodeficiency. Pediatr Transplant. 2014 Sep; 18(6):609-16.
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  13. Dvorak CC, Horn BN, Puck JM, Czechowicz A, Shizuru JA, Ko RM, Cowan MJ. A trial of plerixafor adjunctive therapy in allogeneic hematopoietic cell transplantation with minimal conditioning for severe combined immunodeficiency. Pediatr Transplant. 2014 Sep; 18(6):602-8.
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  14. Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, Etzioni A, Franco JL, Gaspar HB, Holland SM, Klein C, Nonoyama S, Ochs HD, Oksenhendler E, Picard C, Puck JM, Sullivan K, Tang ML. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol. 2014; 5:162.
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  15. Sullivan KE, Puck JM, Notarangelo LD, Fuleihan R, Caulder T, Wang C, Boyle M, Cunningham-Rundles C. USIDNET: a strategy to build a community of clinical immunologists. J Clin Immunol. 2014 May; 34(4):428-35.
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  16. Recommendations for live viral and bacterial vaccines in immunodeficient patients and their close contacts. J Allergy Clin Immunol. 2014 Apr; 133(4):961-6.
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  17. Brigida I, Sauer AV, Ferrua F, Giannelli S, Scaramuzza S, Pistoia V, Castiello MC, Barendregt BH, Cicalese MP, Casiraghi M, Brombin C, Puck J, Müller K, Notarangelo LD, Montin D, van Montfrans JM, Roncarolo MG, Traggiai E, van Dongen JJ, van der Burg M, Aiuti A. B-cell development and functions and therapeutic options in adenosine deaminase-deficient patients. J Allergy Clin Immunol. 2014 Mar; 133(3):799-806.e10.
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  18. Sowerwine KJ, Shaw PA, Gu W, Ling JC, Collins MT, Darnell DN, Anderson VL, Davis J, Hsu A, Welch P, Puck JM, Holland SM, Freeman AF. Bone density and fractures in autosomal dominant hyper IgE syndrome. J Clin Immunol. 2014 Feb; 34(2):260-4.
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  19. Price S, Shaw PA, Seitz A, Joshi G, Davis J, Niemela JE, Perkins K, Hornung RL, Folio L, Rosenberg PS, Puck JM, Hsu AP, Lo B, Pittaluga S, Jaffe ES, Fleisher TA, Rao VK, Lenardo MJ. Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations. Blood. 2014 Mar 27; 123(13):1989-99.
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  20. Shearer WT, Dunn E, Notarangelo LD, Dvorak CC, Puck JM, Logan BR, Griffith LM, Kohn DB, O'Reilly RJ, Fleisher TA, Pai SY, Martinez CA, Buckley RH, Cowan MJ. Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience. J Allergy Clin Immunol. 2014 Apr; 133(4):1092-8.
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