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Jennifer M. Puck, MD

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
puck_jennifer

Professor, Departments of Immunology and Pediatrics, UCSF

puckj@peds.ucsf.edu

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

View on UCSF Profiles


Education

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. Dvorak CC, Cowan MJ, Logan BR, Notarangelo LD, Griffith LM, Puck JM, Kohn DB, Shearer WT, O'Reilly RJ, Fleisher TA, Pai SY, Hanson IC, Pulsipher MA, Fuleihan R, Filipovich A, Goldman F, Kapoor N, Small T, Smith A, Chan KW, Cuvelier G, Heimall J, Knutsen A, Loechelt B, Moore T, Buckley RH. The natural history of children with severe combined immunodeficiency: baseline features of the first fifty patients of the primary immune deficiency treatment consortium prospective study 6901. J Clin Immunol. 2013 Oct; 33(7):1156-64.
    View on PubMed
  2. Kwan A, Church JA, Cowan MJ, Agarwal R, Kapoor N, Kohn DB, Lewis DB, McGhee SA, Moore TB, Stiehm ER, Porteus M, Aznar CP, Currier R, Lorey F, Puck JM. Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years. J Allergy Clin Immunol. 2013 Jul; 132(1):140-50.
    View on PubMed
  3. Bousfiha AA, Jeddane L, Ailal F, Al Herz W, Conley ME, Cunningham-Rundles C, Etzioni A, Fischer A, Franco JL, Geha RS, Hammarström L, Nonoyama S, Ochs HD, Roifman CM, Seger R, Tang ML, Puck JM, Chapel H, Notarangelo LD, Casanova JL. A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside. J Clin Immunol. 2013 Aug; 33(6):1078-87.
    View on PubMed
  4. Hsu AP, Sowerwine KJ, Lawrence MG, Davis J, Henderson CJ, Zarember KA, Garofalo M, Gallin JI, Kuhns DB, Heller T, Milner JD, Puck JM, Freeman AF, Holland SM. Intermediate phenotypes in patients with autosomal dominant hyper-IgE syndrome caused by somatic mosaicism. J Allergy Clin Immunol. 2013 Jun; 131(6):1586-93.
    View on PubMed
  5. Puck JM. Reply: To PMID 22285280. J Allergy Clin Immunol. 2013 Apr; 131(4):1252-3.
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  6. Mallott J, Kwan A, Church J, Gonzalez-Espinosa D, Lorey F, Tang LF, Sunderam U, Rana S, Srinivasan R, Brenner SE, Puck J. Newborn screening for SCID identifies patients with ataxia telangiectasia. J Clin Immunol. 2013 Apr; 33(3):540-9.
    View on PubMed
  7. Engelhardt KR, Shah N, Faizura-Yeop I, Kocacik Uygun DF, Frede N, Muise AM, Shteyer E, Filiz S, Chee R, Elawad M, Hartmann B, Arkwright PD, Dvorak C, Klein C, Puck JM, Grimbacher B, Glocker EO. Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation. J Allergy Clin Immunol. 2013 Mar; 131(3):825-30.
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  8. Punwani D, Gonzalez-Espinosa D, Comeau AM, Dutra A, Pak E, Puck J. Cellular calibrators to quantitate T-cell receptor excision circles (TRECs) in clinical samples. Mol Genet Metab. 2012 Nov; 107(3):586-91.
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  9. Wasserman RL, Melamed I, Stein MR, Gupta S, Puck J, Engl W, Leibl H, McCoy B, Empson VG, Gelmont D, Schiff RI. Recombinant human hyaluronidase-facilitated subcutaneous infusion of human immunoglobulins for primary immunodeficiency. J Allergy Clin Immunol. 2012 Oct; 130(4):951-7.e11.
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  10. Punwani D, Simon K, Choi Y, Dutra A, Gonzalez-Espinosa D, Pak E, Naradikian M, Song CH, Zhang J, Bodine DM, Puck JM. Transcription factor zinc finger and BTB domain 1 is essential for lymphocyte development. J Immunol. 2012 Aug 1; 189(3):1253-64.
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  11. Puck JM. Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles. J Allergy Clin Immunol. 2012 Mar; 129(3):607-16.
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  12. Puck JM. Neonatal screening for severe combined immunodeficiency. Curr Opin Pediatr. 2011 Dec; 23(6):667-73.
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  13. Puck JM. The case for newborn screening for severe combined immunodeficiency and related disorders. Ann N Y Acad Sci. 2011 Dec; 1246:108-17.
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  14. Al-Herz W, Bousfiha A, Casanova JL, Chapel H, Conley ME, Cunningham-Rundles C, Etzioni A, Fischer A, Franco JL, Geha RS, Hammarström L, Nonoyama S, Notarangelo LD, Ochs HD, Puck JM, Roifman CM, Seger R, Tang ML. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol. 2011; 2:54.
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  15. Recher M, Berglund LJ, Avery DT, Cowan MJ, Gennery AR, Smart J, Peake J, Wong M, Pai SY, Baxi S, Walter JE, Palendira U, Tangye GA, Rice M, Brothers S, Al-Herz W, Oettgen H, Eibel H, Puck JM, Cattaneo F, Ziegler JB, Giliani S, Tangye SG, Notarangelo LD. IL-21 is the primary common ? chain-binding cytokine required for human B-cell differentiation in vivo. Blood. 2011 Dec 22; 118(26):6824-35.
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  16. Puck JM, Routes J, Filipovich AH, Sullivan K. Expert commentary: practical issues in newborn screening for severe combined immune deficiency (SCID). J Clin Immunol. 2012 Feb; 32(1):36-8.
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  17. Hsu AP, Dowdell KC, Davis J, Niemela JE, Anderson SM, Shaw PA, Rao VK, Puck JM. Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance. Genet Med. 2012 Jan; 14(1):81-9.
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  18. Yu GP, Nadeau KC, Berk DR, de Saint Basile G, Lambert N, Knapnougel P, Roberts J, Kavanau K, Dunn E, Stiehm ER, Lewis DB, Umetsu DT, Puck JM, Cowan MJ. Genotype, phenotype, and outcomes of nine patients with T-B+NK+ SCID. Pediatr Transplant. 2011 Nov; 15(7):733-41.
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  19. Chan K, Davis J, Pai SY, Bonilla FA, Puck JM, Apkon M. A Markov model to analyze cost-effectiveness of screening for severe combined immunodeficiency (SCID). Mol Genet Metab. 2011 Nov; 104(3):383-9.
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  20. Dasouki M, Okonkwo KC, Ray A, Folmsbeel CK, Gozales D, Keles S, Puck JM, Chatila T. Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: implications for pathogenesis and potential detection by newborn screening. Clin Immunol. 2011 Nov; 141(2):128-32.
    View on PubMed

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