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

UCSF Profiles

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. Wasserman RL, Melamed I, Kobrynski L, Puck J, Gupta S, Doralt J, Sharkhawy M, Engl W, Leibl H, Gelmont D, Yel L. Recombinant human hyaluronidase facilitated subcutaneous immunoglobulin treatment in pediatric patients with primary immunodeficiencies: long-term efficacy, safety and tolerability. Immunotherapy. 2016 Oct; 8(10):1175-86.
    View on PubMed
  2. Wasserman RL, Melamed I, Stein MR, Engl W, Sharkhawy M, Leibl H, Puck J, Rubinstein A, Kobrynski L, Gupta S, Grant AJ, Ratnayake A, Richmond WG, Church J, Yel L, Gelmont D. Long-Term Tolerability, Safety, and Efficacy of Recombinant Human Hyaluronidase-Facilitated Subcutaneous Infusion of Human Immunoglobulin for Primary Immunodeficiency. J Clin Immunol. 2016 Aug; 36(6):571-82.
    View on PubMed
  3. Leven EA, Maffucci P, Ochs HD, Scholl PR, Buckley RH, Fuleihan RL, Geha RS, Cunningham CK, Bonilla FA, Conley ME, Ferdman RM, Hernandez-Trujillo V, Puck JM, Sullivan K, Secord EA, Ramesh M, Cunningham-Rundles C. Hyper IgM Syndrome: a Report from the USIDNET Registry. J Clin Immunol. 2016 Jul; 36(5):490-501.
    View on PubMed
  4. Cicalese MP, Ferrua F, Castagnaro L, Pajno R, Barzaghi F, Giannelli S, Dionisio F, Brigida I, Bonopane M, Casiraghi M, Tabucchi A, Carlucci F, Grunebaum E, Adeli M, Bredius RG, Puck JM, Stepensky P, Tezcan I, Rolfe K, De Boever E, Reinhardt RR, Appleby J, Ciceri F, Roncarolo MG, Aiuti A. Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency. Blood. 2016 Jul 7; 128(1):45-54.
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  5. Griffith LM, Cowan MJ, Notarangelo LD, Kohn DB, Puck JM, Shearer WT, Burroughs LM, Torgerson TR, Decaluwe H, Haddad E. Primary Immune Deficiency Treatment Consortium (PIDTC) update. J Allergy Clin Immunol. 2016 Aug; 138(2):375-85.
    View on PubMed
  6. Chan AY, Punwani D, Kadlecek TA, Cowan MJ, Olson JL, Mathes EF, Sunderam U, Fu SM, Srinivasan R, Kuriyan J, Brenner SE, Weiss A, Puck JM. A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70. J Exp Med. 2016 Feb 8; 213(2):155-65.
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  7. Joseph G, Chen F, Harris-Wai J, Puck JM, Young C, Koenig BA. Parental Views on Expanded Newborn Screening Using Whole-Genome Sequencing. Pediatrics. 2016 Jan; 137 Suppl 1:S36-46.
    View on PubMed
  8. Brenner SE, Kingsmore S, Mooney SD, Nussbaum R, Puck J. USE OF GENOME DATA IN NEWBORNS AS A STARTING POINT FOR LIFE-LONG PRECISION MEDICINE. Pac Symp Biocomput. 2016; 21:568-75.
    View on PubMed
  9. Fischer A, Notarangelo LD, Neven B, Cavazzana M, Puck JM. Severe combined immunodeficiencies and related disorders. Nat Rev Dis Primers. 2015; 1:15061.
    View on PubMed
  10. Picard C, Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, Etzioni A, Holland SM, Klein C, Nonoyama S, Ochs HD, Oksenhendler E, Puck JM, Sullivan KE, Tang ML, Franco JL, Gaspar HB. Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015. J Clin Immunol. 2015 Nov; 35(8):696-726.
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  11. 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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  12. Bousfiha A, Jeddane L, Al-Herz W, Ailal F, 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 KE, Tang ML. The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies. J Clin Immunol. 2015 Nov; 35(8):727-38.
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  13. 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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  14. 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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  15. 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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  16. 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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  17. 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.
    View on PubMed
  18. 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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  19. 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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  20. 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.
    View on PubMed

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