Professor, Departments of Immunology and Pediatrics, UCSF
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
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1975-78
Pediatric Resident, Infectious Diseases Fellow, St. Louis Children's Hosp., Wash. U, St. Louis, MO
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1978-81
Pediatric Infectious Diseases and Immunology Fellowships: Influenza Research Center and Depts. of Pediatrics and Microbiology, Baylor College of Medicine, Houston, TX
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1981-84
Instructor, Dept. of Pediatrics and Microbiology/Immunology, Baylor College of Medicine
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1984-91
Assistant Professor, Dept. of Pediatrics, Univ. of Pennsylvania Sch. of Medicine, Philadelphia, PA
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1991-93
Associate Professor, Depts. of Pediatrics and Human Genetics, Univ. of PA, Philadelphia, PA
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1993-2006
Senior Staff Physician, W. G. Magnusen Clinical Center, NIH, Bethesda, MD
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1993-2006
Head, Immunologic Disease Section, National Human Genome Research Inst (NHGRI), NIH
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1994-97
Associate Chief, Laboratory for Gene Transfer, NHGRI, NIH
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1997-2006
Chief, Genetics and Molecular Biology Branch, NHGRI, NIH
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1998-2006
Director, CLIA Certified Molecular Diagnostic Laboratory in Immunologic Genetics, ID#21D0940018
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2006-present
Professor of Immunology, Dept. of Pediatrics, UCSF, San Francisco
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2006-present
Assoc. Program Director, Pediatrics Clinical Research Center, Clinical & Translational Sciences Inst., UCSF
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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
- Puck JM. Reply. J Allergy Clin Immunol. 2013 Apr; 131(4):1252-3.
View on PubMed - 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 - 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):825-830.e9.
View on PubMed - 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.
View on PubMed - 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.
View on PubMed - 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.
View on PubMed - 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.
View on PubMed - Puck JM. Neonatal screening for severe combined immunodeficiency. Curr Opin Pediatr. 2011 Dec; 23(6):667-73.
View on PubMed - Puck JM. The case for newborn screening for severe combined immunodeficiency and related disorders. Ann N Y Acad Sci. 2011 Dec; 1246:108-17.
View on PubMed - 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.
View on PubMed - 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.
View on PubMed - 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.
View on PubMed - 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.
View on PubMed - 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.
View on PubMed - 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.
View on PubMed - 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 - Chan A, Scalchunes C, Boyle M, Puck JM. Early vs. delayed diagnosis of severe combined immunodeficiency: a family perspective survey. Clin Immunol. 2011 Jan; 138(1):3-8.
View on PubMed - Walter JE, Rucci F, Patrizi L, Recher M, Regenass S, Paganini T, Keszei M, Pessach I, Lang PA, Poliani PL, Giliani S, Al-Herz W, Cowan MJ, Puck JM, Bleesing J, Niehues T, Schuetz C, Malech H, DeRavin SS, Facchetti F, Gennery AR, Andersson E, Kamani NR, Sekiguchi J, Alenezi HM, Chinen J, Dbaibo G, ElGhazali G, Fontana A, Pasic S, Detre C, Terhorst C, Alt FW, Notarangelo LD. Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency. J Exp Med. 2010 Jul 5; 207(7):1541-54.
View on PubMed - Dowdell KC, Niemela JE, Price S, Davis J, Hornung RL, Oliveira JB, Puck JM, Jaffe ES, Pittaluga S, Cohen JI, Fleisher TA, Rao VK. Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome. Blood. 2010 Jun 24; 115(25):5164-9.
View on PubMed - Woellner C, Gertz EM, Schäffer AA, Lagos M, Perro M, Glocker EO, Pietrogrande MC, Cossu F, Franco JL, Matamoros N, Pietrucha B, Heropolitanska-Pliszka E, Yeganeh M, Moin M, Español T, Ehl S, Gennery AR, Abinun M, Breborowicz A, Niehues T, Kilic SS, Junker A, Turvey SE, Plebani A, Sánchez B, Garty BZ, Pignata C, Cancrini C, Litzman J, Sanal O, Baumann U, Bacchetta R, Hsu AP, Davis JN, Hammarström L, Davies EG, Eren E, Arkwright PD, Moilanen JS, Viemann D, Khan S, Maródi L, Cant AJ, Freeman AF, Puck JM, Holland SM, Grimbacher B. Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. J Allergy Clin Immunol. 2010 Feb; 125(2):424-432.e8.
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