puckj@peds.ucsf.edu
(415) 476-3181 (voice)
(415) 502-5127 (fax)

Box 0519, UCSF; San Francisco, CA 94143-0519

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

Puck J, Glezen W, Frank A, Six H. Protection of infants from influenza A infection by transplacental antibody. J Infect Dis 142:844-849, 1980.

Greenberg S, Tabor L, Septimus E, Kohl S, Puck J, Bryan R. Computerized tomography in brain biopsy proven herpes simplex herpes encephalitis. Arch Neurol 38:58-59, 1981.

Parker P, Puck J, Fernandez F. Cerebral infarction associated with M pneumoniae. Pediatr 67:373-375, 1981.

Abramson S, Puck J, Rich R. Antigen presentation to human T lymphocytes. I. Different requirements for stimulation of hapten-modified cells versus cell sonicates. J Exp Med 154:1005-1015. 1981.

Croce C, Isobe M, Palumbo A, Puck J, Ming J et al. The gene for the alpha-chain of the human T cell receptor is on the region of chromosome 14 involved in translocations and in inversions in T cell neoplasms. Science 227:1044-1047, 1985.

Gold D, Puck J, Pettey C, Cho M, Coligan J, Woody J, Terhorst C. Isolation of cDNA clones encoding the 20kD non-glycosylated polypeptide chain (T3-Epsilon) of the human T cell receptor/T3 complex. Nature 321:431-434, 1986.

Puck J, Nussbaum R, Conley ME. Carrier detection in X-linked severe combined immunodeficiency based on patterns of X chromosome inactivation. J Clin Invest 79:1395-1400, 1987.

Conley ME, Lavoie A, Briggs C, Guerra C, Puck J. Non-random X chromosome inactivation in B cells from carriers of X-linked severe combined immunodeficiency. Proc Nat Acad Sci USA 85:3090-3094, 1988.

Conley ME, Puck J. Carrier detection in typical and atypical X-linked agammaglobulinemia. J Pediatr 112:688-694, 1988.

Puck J, Krauss C, Puck S, Buckley R, Conley M. Prenatal test for X-linked severe combined immunode-ficiency by analysis of maternal X-chromosome inactivation and linkage. New Engl J Med 322:1063, 1990.

Puck J, Stewart C, Nussbaum, R. Maximum likelihood analysis of T-cell X chromosome inactivation: Normal women vs. carriers of X-linked SCID. Am J Hum Genet 50:742, 1992.

Puck J, Desch�nes S, Porter J, Dutra A, Brown C, Willard H. The IL-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1. Hum Molec Genet 2:1099, 1993.

Puck J, Pepper A, Bédard P-M, Laframboise R. Female germ line mosaicism as the origin of a unique IL-2 receptor -chain mutation causing X-linked severe combined immunodeficiency. J Clin Invest 95:895, 1995.

Fisher G, Rosenberg F,Straus S, Dale J, Middelton L, Lin A, Strober W, Lenardo M, Puck J. Dominant interfering Fas gene mutations impair apoptosis in human autoimmune lymphoproliferative syndrome. Cell 81:935, 1995.

Pepper A, Buckley R, Small T, Puck J. Two CpG hot spots in IL2RG. Am J Hum Genet 57:564, 1995.

Hirschhorn R, Yang D, Puck J et al. Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency. Nature Genet 13:290, 1996.

Flake A, Porada G, Puck J, Roncorolo M-G, Evans M, Johnson M, Abella E, Harrison D, Zanjani E. Treatment of XSCID by in utero transplantation of CD34 enriched bone marrow. New Engl J Med 355:1806, 1996.

Whitwam T, Haskins M, Henthorn P, Kraszewski J, Kleiman S, Seidel N, Bodine D, Puck J. Retroviral marking of canine bone marrow: Long term, high level expression of human IL-2 receptor common gamma chain in canine lymphocytes. Blood 92:1565, 1998.

Puck J, Pepper A, Henthorn P et al. Mutation analysis of IL2RG in human X-linked SCID. Blood 89:1968 1997.

Puck J, Willard H. X inactivation in females with X-linked disease. New Engl J Med 338:325-328, 1998.

Infante A, Britton H, DiNapoli T, Middelton L, Lenardo M, Jackson C, Wang J, Fleisher T, Straus S, Puck J. The clinical spectrum in a large kindred with ALPS due to a Fas mutation. J Pediatr 133:629, 1998.

Grimbacher B, Holland S, Gallin J, Greenberg F, Hill S, Malech H, Miller J, O'Connell A, Puck J. Hyper-IgE recurrent infection syndrome. New Engl J Med, 340:692, 1999.

Jackson C, Hsu A, Fischer R, Wang J, Lenardo M, Straus S, Puck J. Autoimmune lymphoproliferative syndrome with defective Fas: Genotype influences penetrance. Am J Hum Genet 64:1002, 1999.

Choi Y, Ramnath V, Chen A, Eaton A, Kleiner D, Erikson J, Puck J. Expression in transgenic mice of dominant interfering mutations of Fas: A model for human ALPS. Clin Immunol, 93:34, 1999.

Wang J, Zheng L, Puck J, Straus S, Lenardo M. Inherited human caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in ALPS type II. Cell 98:47, 1999.

Grimbacher B, SchŠffer A, Holland S, Davis J, Gallin J, Malech H, Atkinson T, Belohradsky B, Buckley R, Cossu F, Espa–ol T, Garty B-Z, Matamoros N, Myers L, Nelson R, Ochs H, Renner E, Wellinghausen N, Puck J. Genetic linkage of hyper-IgE syndrome to chromosome 4. Am J Hum Genet 65:735, 1999.

Grimbacher B, Dutra AS, Holland SM, Pao M, Gallin J, Puck J. Analphoid marker chromosome in a patient with hyper-IgE syndrome, autism and mild and mental retardation. Genetics in Medicine 1:213, 1999.

Niemela J, Puck J, Fischer R et al. Efficient detection of thirty-seven new IL2RG mutations in human X-linked severe combined immunodeficieny. Clin Immunol 95:33, 2000.

Fanos JH, Davis J, Puck J. Sib understanding of genetics and attitudes towards carrier testing for X-linked severe combined immunodeficiency. Am J Med Genet 98:46, 2001.

Fanos J, Puck J. Family pictures: Growing up with a brother with X-linked. Am J Med Genet 98:57, 2001.

Avilés Mendoza G, Seidel N, Otsu M, Anderson S, Simon-Stoos K, Hererra A, Hoogstraten-Miller S, Malech H, Candotti F, Puck J, Bodine D. Comparison of five retrovirus vectors containing the human IL-2 receptor gamma chain gene for their ability to restore T and B lymphocytes in the X-linked severe combined immunodeficiency mouse model. Molecular Therapy 3:565, 2001.

Straus S, Jaffe E, Puck J et al. The development of lymphomas in families with ALPS with germline Fas mutations. Blood. 98:194, 2001.

Bleesing J, Brown M, Straus S, Dale J, Siegel R, Johnson M, Lenardo M, Puck J, Fleisher T. Immuno-phenotypic profiles in the autoimmune lymphoproliferative syndrome (ALPS). Blood 98:2466, 2001.

Atkinson T, SchŠffer A, Grimbacher B, Schroeder H, Woellner C, Zerbe C, Puck J. An immune defect causing dominant chronic mucocutaneous candidiasis maps to chromosome 2p. Am J Hum Genet 69:791, 2001.

Licht T, Haskins M, Henthorn P, Kleiman S, Bodine D, Whitwam T, Puck J, Gottesman M, Melniczek J. Drug selection with paclitaxel restores expression of linked interleukin-2 receptor gamma chain and multidrug resistance (MDR1) transgenes in canine bone marrow. Proc Natl Acad Sci USA 99:3123, 2002.

Myers L, Patel, D, Puck J, Buckley R. Hematopoietic stem cell transplantation for SCID in the neonatal period leads to superior thymic output and improved survival. Blood 99:872, 2002.

Choi Y, Simon-Stoos K, Puck J. Hypo-active variant of IL-2 and associated decreased T-cell activation contribute to impaired apoptosis in autoimmune prone MRL mice. Euro J Immunol 32:677, 2002.

Tsai E, Malech H, Kirby M, Hsu A, Seidel N, Porada C, Zanjani E, Bodine D, Puck J. Retroviral transduction of IL2RG into CD34 cells from XSCID patients permits human T and B cell development in sheep chimeras. Blood 100:72, 2002.

Chun H, Zheng L, Ahmad M, Wang J, Speirs C, Siegel R, Dale J, Puck J, Davis J, Hall C, Skoda-Smith S, Atkinson T, Straus S, Lenardo M. Pleiotropic lymphocyte activation defects due to caspase-8 mutation cause human immunodeficiency. Nature 419:395, 2002.

Hay B, Martin J, Karp B, Davis J, Darnell D, Solomon B, Turner M, Holland S, Puck J. Familial immunodef-iciency with cutaneous vasculitis, myoclonus and cognitive impairment. Am J Med Genet 125:145, 2004.

Renner ED, Puck J, Holland S, Schmitt M, Weiss M, Frosch M, Bergmann M, Davis J, Belohradsky B, Grimbacher B. Autosomal recessive hyper-IgE syndrome, a distinct disease. J. Pediatr 144:93, 2004.

Chinen J, Puck J. Successes and risks of gene therapy in primary immunodeficiencies. J Allergy Clin Immunol 113:595, 2004.

Matsuzaki H, Loi H, Dong S, Tsai Y-Y, Fang J, Law J, Di X, Liu W-M, Yang G, Liu G, Huang J, Kennedy G, Marcus G, Walsh S, Ryder T, Puck J, et al. Parallel genotyping of over 10,000 SNPs using a one primer assay on a single high density oligonucleotide array. Genome Res 14:414, 2004.

Legembre P, Barnhart B, Zheng L, Vijayan S, Straus S, Puck J, Dale J, Lenardo M, Peter M. Induction of apoptosis and activation of NF-kappaB by CD95 require different signalling thresholds. EMBO Reports 5:1084, 2004.

Chan K, Puck J. Development of populationÐbased newborn screening for severe combined immuno-deficiency. J Allergy Clin Immunol 115:391, 2005.

Rao K, Dugan F, Dale J, Davis J, Tretler J, Hurley J, Fleisher T, Puck J, Straus S. Use of mycophenolate mofetil for chronic refractory immune cytopenias in children with autoimmune lymphoproliferative syndrome. Brit J Hematol 129:534, 2005.

Maric I, Pittaluga S, Dale J, Niemela J, Delsol G, Diment J, Rosai J, Raffeld M, Puck J, Straus S, Jaffe E. Histologic features of sinus histiocytosis with massive lymphadenopathy in patients with autoimmune lymphoproliferative syndrome (ALPS). Am J Surg Pathol 29:903, 2005.

Vogt G, Chapgier A, Yang K, Chuzhanova N, Feinberg J, Fieschi C, Boisson-Dupuis S, Alcais A, Filipe-Santos O, Bustamante J, de Beaucoudrey L, Al-Mohsen I, Al-Hajjar S, Al-Ghonaium A, Adimi P, Mirsaeidi M, Khalizadeh S, Rosenzweig S, Martin O de la C, Bauer T, Puck J, Ochs H, Furthner D, Belohradsky B, Mansouri D, Schreiber R, Abel L, Cooper D, Soudais C, Casanova J-L. Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. Nature Genet 37:692, 2005.

Niemela J, Hsu, A, Fleisher T, Puck J. Single nucleotide polymorphisms in the apoptosis receptor gene TNFRSF6. Mol Cell Probes 20:21, 2006.

Rao V, Carrasquillo J, Dale J, Bacharach S, Whatley M, Dugan F, Tretler J, Fleisher G, Puck J et al. Fluorodeoxyglucose positron emission tomography (FDG PET) for monitoring lymphadenopathy in the autoimmune lymphoproliferative syndrome (ALPS). Am J Hematol 81:181, 2006.

Kellermayer R, Hsu A, Stankovics J, Balogh P, Hadzsiev K, Vojczek Á, Maródi L, Kajtár P, Kosztolányi G, Puck J. Genetic Aspects of Severe Combined Immunodeficiency. J Hum Genet, 51:495, 2006.

Vacek M, SchŠffer A, Davis J, Fischer R, Dale J, Straus S, Puck J. HLA B44 is associated with decreased severity of autoimmune lymphoproliferative syndrome in patients with CD95 mutations (ALPS Ia). Clin Immunol 118:59, 2006.

Zhu S, Hsu A, Vacek M, Zheng L, SchŠffer A, Dale J, Davis J, Fischer R, Straus S, Boruchov D, Saulsbury F, Lenardo M, Puck J. Genetic alterations in caspase-10 can be causative or protective in autoimmune lymphoproliferative syndrome. Hum Genet 119:284, 2006.

Notarangelo L, Casanova J-L, Conley ME, Chapel H, Fischer A, Puck J, Roifman C, Seger R, Geha R. Primary immunodeficiency diseases: An update from the International Union of Immunological Societies PID Classification Committee Meeting in Budapest, 2005. J Allergy Clin Immunol 117:883, 2006.

Freeman A, Kleiner D, Nadiminti H, Davis J, Quezado M, Anderson V, Puck J, Holland S. Causes of death in hyper-IgE syndrome. J Allergy Clin Immunol 119:1234, 2007.

Oliveira J, Bid�re N, Niemela J, Zheng L, Sakai K, Puro C, Danner R, Barb J, Munson P, Puck J, Dale J, Straus S, Fleisher T, Lenardo M. NRAS causes a autoimmune lymphoproliferative syndrome. Proc. Natl. Acad. Sci. USA 104:8953, 2007.

Butte M, Haines C, Bonilla F, Puck J. IL-7 receptor deficient SCID with a unique intronic mutation and post-transplant autoimmunity. Clin Immunol 125:159, 2007.

Chinen J, Davis J, DeRavin S, Hay B, Hsu A, Linton G, Naumann N, Nomicos E, Silvin C, Ulrick J, Whiting-Theobald N, Malech H, Puck J. Gene therapy improves immune function in pre-adolescents with X-linked severe combined immunodeficiency. Blood, 110:67, 2007.

Geha RS, Notarangelo LD, Casanova J-L, Chapel, H, Conley ME, Fischer A, Hammartršm L, Nonoyama S, Ochs H, Puck JM et al. Primary immunodeficiency diseases: update by the International Union of Immunological Societies (IUIS) Primary Immunodeficiency Diseases (PID) Classification Committee. J Allergy Clin Immunol 120:776, 2007.

Holland S, DeLeo F, Elloumi H, Hsu A, Uzel G, Brodsky N, Freeman A, Demidowich A, Davis J, Turner M, Anderson V, Darnell D, Welch P, Kuhns D, Malech H, Gallin J, Kobayashi S, Whitney A, Voyich J, Musser J, Woellner C, SchŠffer A, Puck J*, Grimbacher B*. STAT3 Mutations in hyper IgE recurrent infection syndrome (HIES). New Engl J Med 357:1608-1619, 2007. [*co-senior authors]

Puck JM on behalf of The Working Group for Newborn Screening for SCID. Development of population-based newborn screening for SCID. J Allergy Clin Immunol 120:760, 2007.

11/09/07