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    Jennifer Puck, MD

    TitleProfessor
    SchoolUCSF School of Medicine
    DepartmentPediatrics
    Address513 Parnassus Ave
    San Francisco CA 94143
    Phone415-476-2491

       Biography 
       Education and Training
      Institution Degree School or Department Year
      Harvard UniversityM.D.School of Medicine1975

       Overview 
       Overview
      Jennifer Puck, MD, came to UCSF in 2006 as Professor of Immunology in the Department of Pediatrics and Medical Director of the Pediatric Clinical Research Center in the UCSF Clinical and Translational Research Institute's Clinical Research Services Division. Dr. Puck’s research is in human primary immunodeficiencies. Her scientific contributions include mapping and identification of the genes for X-linked severe combined immunodeficiency (XSCID) and autoimmune lymphoproliferative syndrome (ALPS); a clinical trial of retroviral gene therapy for patients with XSCID who failed bone marrow transplantation; and definition of the disease and gene defects in STAT3 in hyper-IgE syndrome, or Job syndrome, a multisystem disorder. On the translational side, she has developed a test to screen all newborns for severe lymphocyte disorders based on detecting T cell receptor excision circles (TRECs), byproducts of normal T lymphocyte receptor rearrangement. The TREC test is now part of the standard newborn screening panel in several states, including California, where Dr. Puck works with the Department of Public Health to identify, diagnose and treat infants with abnormal TREC screens in our large and diverse population. Dr. Puck also uses mouse models to probe lymphocyte development and is investigating a new gene identified by her lab that when knocked out results in arrest of T cell development from common lymphoid precursors.

       Interests
      Inherited disorders of the immune system, severe combined immunodeficiency, lymphocyte development, whole exome sequencing

       ORNG Applications 
       Websites
       In The News
       Awarded Grants
       Global Health
       More Info

       Bibliographic 
       Publications
      Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help.
      List All   |   Timeline
      1. 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.
        View in: PubMed
      2. 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.
        View in: PubMed
      3. 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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      4. 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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      5. 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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      6. 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.
        View in: PubMed
      7. 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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      8. 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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      9. 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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      10. 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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      11. 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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      12. Lee YN, Frugoni F, Dobbs K, Walter JE, Giliani S, Gennery AR, Al-Herz W, Haddad E, Ledeist F, Bleesing JH, Henderson LA, Pai SY, Nelson RP, El-Ghoneimy DH, El-Feky RA, Reda SM, Hossny E, Soler-Palacin P, Fuleihan RL, Patel NC, Massaad MJ, Geha RS, Puck JM, Palma P, Cancrini C, Chen K, Vihinen M, Alt FW, Notarangelo LD. A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency. J Allergy Clin Immunol. 2014 Apr; 133(4):1099-1108.e12.
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      13. 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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      14. Griffith LM, Cowan MJ, Notarangelo LD, Kohn DB, Puck JM, Pai SY, Ballard B, Bauer SC, Bleesing JJ, Boyle M, Brower A, Buckley RH, van der Burg M, Burroughs LM, Candotti F, Cant AJ, Chatila T, Cunningham-Rundles C, Dinauer MC, Dvorak CC, Filipovich AH, Fleisher TA, Bobby Gaspar H, Gungor T, Haddad E, Hovermale E, Huang F, Hurley A, Hurley M, Iyengar S, Kang EM, Logan BR, Long-Boyle JR, Malech HL, McGhee SA, Modell F, Modell V, Ochs HD, O'Reilly RJ, Parkman R, Rawlings DJ, Routes JM, Shearer WT, Small TN, Smith H, Sullivan KE, Szabolcs P, Thrasher A, Torgerson TR, Veys P, Weinberg K, Zuniga-Pflucker JC. Primary Immune Deficiency Treatment Consortium (PIDTC) report. J Allergy Clin Immunol. 2014 Feb; 133(2):335-347.e11.
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      15. 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.
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      16. 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.
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      17. 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.
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      18. 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.
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      19. Puck JM. Reply: To PMID 22285280. J Allergy Clin Immunol. 2013 Apr; 131(4):1252-3.
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      20. 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.
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      21. Yong PF, Freeman AF, Engelhardt KR, Holland S, Puck JM, Grimbacher B. An update on the hyper-IgE syndromes. Arthritis Res Ther. 2012; 14(6):228.
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      22. 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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      23. 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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      24. 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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      25. 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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      26. 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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      27. 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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      28. Puck JM. Neonatal screening for severe combined immunodeficiency. Curr Opin Pediatr. 2011 Dec; 23(6):667-73.
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      29. 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 in: PubMed
      30. 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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      31. 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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      32. 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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      33. 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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      34. 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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      35. 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.
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      36. 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.
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      37. 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.
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      38. 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.
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      39. 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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      40. Primary immunodeficiencies: 2009 update. J Allergy Clin Immunol. 2009 Dec; 124(6):1161-78.
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      41. Engelhardt KR, McGhee S, Winkler S, Sassi A, Woellner C, Lopez-Herrera G, Chen A, Kim HS, Lloret MG, Schulze I, Ehl S, Thiel J, Pfeifer D, Veelken H, Niehues T, Siepermann K, Weinspach S, Reisli I, Keles S, Genel F, Kutukculer N, Kutuculer N, Camcioglu Y, Somer A, Karakoc-Aydiner E, Barlan I, Gennery A, Metin A, Degerliyurt A, Pietrogrande MC, Yeganeh M, Baz Z, Al-Tamemi S, Klein C, Puck JM, Holland SM, McCabe ER, Grimbacher B, Chatila TA. Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome. J Allergy Clin Immunol. 2009 Dec; 124(6):1289-302.e4.
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      42. Griffith LM, Cowan MJ, Notarangelo LD, Puck JM, Buckley RH, Candotti F, Conley ME, Fleisher TA, Gaspar HB, Kohn DB, Ochs HD, O'Reilly RJ, Rizzo JD, Roifman CM, Small TN, Shearer WT. Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management. J Allergy Clin Immunol. 2009 Dec; 124(6):1152-60.e12.
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      43. Rao VK, Price S, Perkins K, Aldridge P, Tretler J, Davis J, Dale JK, Gill F, Hartman KR, Stork LC, Gnarra DJ, Krishnamurti L, Newburger PE, Puck J, Fleisher T. Use of rituximab for refractory cytopenias associated with autoimmune lymphoproliferative syndrome (ALPS). Pediatr Blood Cancer. 2009 Jul; 52(7):847-52.
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      44. Herold KC, Gitelman S, Greenbaum C, Puck J, Hagopian W, Gottlieb P, Sayre P, Bianchine P, Wong E, Seyfert-Margolis V, Bourcier K, Bluestone JA. Treatment of patients with new onset Type 1 diabetes with a single course of anti-CD3 mAb Teplizumab preserves insulin production for up to 5 years. Clin Immunol. 2009 Aug; 132(2):166-73.
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      45. Shiow LR, Paris K, Akana MC, Cyster JG, Sorensen RU, Puck JM. Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion. Clin Immunol. 2009 Apr; 131(1):24-30.
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      46. Griffith LM, Cowan MJ, Kohn DB, Notarangelo LD, Puck JM, Schultz KR, Buckley RH, Eapen M, Kamani NR, O'Reilly RJ, Parkman R, Roifman CM, Sullivan KE, Filipovich AH, Fleisher TA, Shearer WT. Allogeneic hematopoietic cell transplantation for primary immune deficiency diseases: current status and critical needs. J Allergy Clin Immunol. 2008 Dec; 122(6):1087-96.
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      47. Shiow LR, Roadcap DW, Paris K, Watson SR, Grigorova IL, Lebet T, An J, Xu Y, Jenne CN, Föger N, Sorensen RU, Goodnow CC, Bear JE, Puck JM, Cyster JG. The actin regulator coronin 1A is mutant in a thymic egress-deficient mouse strain and in a patient with severe combined immunodeficiency. Nat Immunol. 2008 Nov; 9(11):1307-15.
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      48. Lebet T, Chiles R, Hsu AP, Mansfield ES, Warrington JA, Puck JM. Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray. Genet Med. 2008 Aug; 10(8):575-85.
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      49. Vogt G, Bustamante J, Chapgier A, Feinberg J, Boisson Dupuis S, Picard C, Mahlaoui N, Gineau L, Alcaïs A, Lamaze C, Puck JM, de Saint Basile G, Khayat CD, Mikhael R, Casanova JL. Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation. J Exp Med. 2008 Aug 4; 205(8):1729-37.
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      50. Domingo DL, Freeman AF, Davis J, Puck JM, Tianxia W, Holland SM, Hart TC. Novel intraoral phenotypes in hyperimmunoglobulin-E syndrome. Oral Dis. 2008 Jan; 14(1):73-81.
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      51. Cowan MJ, Neven B, Cavazanna-Calvo M, Fischer A, Puck J. Hematopoietic stem cell transplantation for severe combined immunodeficiency diseases. Biol Blood Marrow Transplant. 2008 Jan; 14(1 Suppl 1):73-5.
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      52. Puck JM. Population-based newborn screening for severe combined immunodeficiency. Biol Blood Marrow Transplant. 2008 Jan; 14(1 Suppl 1):78-80.
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      53. Puck JM. Neonatal screening for severe combined immune deficiency. Curr Opin Allergy Clin Immunol. 2007 Dec; 7(6):522-7.
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      54. Rao VK, Dowdell KC, Dale JK, Dugan F, Pesnicak L, Bi LL, Hoffmann V, Penzak S, Avila NA, Fleisher TA, Puck JM, Straus SE. Pyrimethamine treatment does not ameliorate lymphoproliferation or autoimmune disease in MRL/lpr-/- mice or in patients with autoimmune lymphoproliferative syndrome. Am J Hematol. 2007 Dec; 82(12):1049-55.
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      55. Pfeifer D, Woellner C, Petersen A, Pietrogrande MC, Franco JL, Yeganeh M, Ehl S, Matamoros N, Sprecher E, Puck JM, Veelken H, Grimbacher B. The hyper-IgE syndrome is not caused by a microdeletion syndrome. Immunogenetics. 2007 Dec; 59(12):913-26.
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      56. Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarström L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J. Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol. 2007 Oct; 120(4):776-94.
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      57. Shearer WT, Malech HL, Puck JM. Primary immunodeficiency: meeting the challenges. J Allergy Clin Immunol. 2007 Oct; 120(4):753-5.
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      58. Puck JM. Population-based newborn screening for severe combined immunodeficiency: steps toward implementation. J Allergy Clin Immunol. 2007 Oct; 120(4):760-8.
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      59. Holland SM, DeLeo FR, Elloumi HZ, Hsu AP, Uzel G, Brodsky N, Freeman AF, Demidowich A, Davis J, Turner ML, Anderson VL, Darnell DN, Welch PA, Kuhns DB, Frucht DM, Malech HL, Gallin JI, Kobayashi SD, Whitney AR, Voyich JM, Musser JM, Woellner C, Schäffer AA, Puck JM, Grimbacher B. STAT3 mutations in the hyper-IgE syndrome. N Engl J Med. 2007 Oct 18; 357(16):1608-19.
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      60. Butte MJ, Haines C, Bonilla FA, Puck J. IL-7 receptor deficient SCID with a unique intronic mutation and post-transplant autoimmunity due to chronic GVHD. Clin Immunol. 2007 Nov; 125(2):159-64.
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      61. Bi LL, Pan G, Atkinson TP, Zheng L, Dale JK, Makris C, Reddy V, McDonald JM, Siegel RM, Puck JM, Lenardo MJ, Straus SE. Dominant inhibition of Fas ligand-mediated apoptosis due to a heterozygous mutation associated with autoimmune lymphoproliferative syndrome (ALPS) Type Ib. BMC Med Genet. 2007; 8:41.
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      62. Oliveira JB, Bidère N, Niemela JE, Zheng L, Sakai K, Nix CP, Danner RL, Barb J, Munson PJ, Puck JM, Dale J, Straus SE, Fleisher TA, Lenardo MJ. NRAS mutation causes a human autoimmune lymphoproliferative syndrome. Proc Natl Acad Sci U S A. 2007 May 22; 104(21):8953-8.
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      63. Woellner C, Schäffer AA, Puck JM, Renner ED, Knebel C, Holland SM, Plebani A, Grimbacher B. The hyper IgE syndrome and mutations in TYK2. Immunity. 2007 May; 26(5):535; author reply 536.
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      64. Freeman AF, Collura-Burke CJ, Patronas NJ, Ilcus LS, Darnell D, Davis J, Puck JM, Holland SM. Brain abnormalities in patients with hyperimmunoglobulin E syndrome. Pediatrics. 2007 May; 119(5):e1121-5.
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      65. Chinen J, Davis J, De Ravin SS, Hay BN, Hsu AP, Linton GF, Naumann N, Nomicos EY, Silvin C, Ulrick J, Whiting-Theobald NL, Malech HL, Puck JM. Gene therapy improves immune function in preadolescents with X-linked severe combined immunodeficiency. Blood. 2007 Jul 1; 110(1):67-73.
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      66. Freeman AF, Kleiner DE, Nadiminti H, Davis J, Quezado M, Anderson V, Puck JM, Holland SM. Causes of death in hyper-IgE syndrome. J Allergy Clin Immunol. 2007 May; 119(5):1234-40.
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      67. Puck JM. Severe combined immunodeficiency: new advances in diagnosis and treatment. Immunol Res. 2007; 38(1-3):64-7.
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      173. Puck JM, Stewart CC, Nussbaum RL. Maximum-likelihood analysis of human T-cell X chromosome inactivation patterns: normal women versus carriers of X-linked severe combined immunodeficiency. Am J Hum Genet. 1992 Apr; 50(4):742-8.
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      174. Ram KT, Barker DF, Puck JM. Dinucleotide repeat polymorphism at the DXS441 locus. Nucleic Acids Res. 1992 Mar 25; 20(6):1428.
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      175. Hirschhorn R, Chakravarti V, Puck J, Douglas SD. Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID). Am J Hum Genet. 1991 Oct; 49(4):878-85.
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      176. Henthorn PS, Stewart CC, Kadesch T, Puck JM. The gene encoding human TFE3, a transcription factor that binds the immunoglobulin heavy-chain enhancer, maps to Xp11.22. Genomics. 1991 Oct; 11(2):374-8.
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      177. Conley ME, Burks AW, Herrod HG, Puck JM. Molecular analysis of X-linked agammaglobulinemia with growth hormone deficiency. J Pediatr. 1991 Sep; 119(3):392-7.
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      178. Puck JM, Stewart CC, Henthorn PS. A high-frequency RFLP at the human TFE3 locus on the X chromosome. Nucleic Acids Res. 1991 Feb 11; 19(3):684.
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      179. Marshall GS, Ricciardi RP, Rando RF, Puck J, Ge RW, Plotkin SA, Gönczöl E. An adenovirus recombinant that expresses the human cytomegalovirus major envelope glycoprotein and induces neutralizing antibodies. J Infect Dis. 1990 Nov; 162(5):1177-81.
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      180. Hicks DG, LiVolsi VA, Neidich JA, Puck JM, Kant JA. Clonal analysis of solitary follicular nodules in the thyroid. Am J Pathol. 1990 Sep; 137(3):553-62.
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      181. Puck JM, Siminovitch KA, Poncz M, Greenberg CR, Rottem M, Conley ME. Atypical presentation of Wiskott-Aldrich syndrome: diagnosis in two unrelated males based on studies of maternal T cell X chromosome inactivation. Blood. 1990 Jun 15; 75(12):2369-74.
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      182. Conley ME, Sullivan JL, Neidich JA, Puck JM. X chromosome inactivation patterns in obligate carriers of X-linked lymphoproliferative syndrome. Clin Immunol Immunopathol. 1990 Jun; 55(3):486-91.
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      183. Neidich JA, Nussbaum RL, Packer RJ, Emanuel BS, Puck JM. Heterogeneity of clinical severity and molecular lesions in Aicardi syndrome. J Pediatr. 1990 Jun; 116(6):911-7.
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      184. Conley ME, Buckley RH, Hong R, Guerra-Hanson C, Roifman CM, Brochstein JA, Pahwa S, Puck JM. X-linked severe combined immunodeficiency. Diagnosis in males with sporadic severe combined immunodeficiency and clarification of clinical findings. J Clin Invest. 1990 May; 85(5):1548-54.
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      185. Puck JM, Krauss CM, Puck SM, Buckley RH, Conley ME. Prenatal test for X-linked severe combined immunodeficiency by analysis of maternal X-chromosome inactivation and linkage analysis. N Engl J Med. 1990 Apr 12; 322(15):1063-6.
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      186. Smead DL, Nussbaum RL, Puck JM. RFLPs in human X-linked PGK1: a new probe for the PstI RFLP demonstrates strong linkage disequilibrium with the BgII RFLP. Nucleic Acids Res. 1989 Sep 25; 17(18):7551.
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      187. Puck JM, Nussbaum RL, Smead DL, Conley ME. X-linked severe combined immunodeficiency: localization within the region Xq13.1-q21.1 by linkage and deletion analysis. Am J Hum Genet. 1989 May; 44(5):724-30.
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      188. Vanhaecke E, Renders W, Decleraq B, Logghe M, Puck J, Renders M. Evaluation of the stability and sporicidal activity of three glutaraldehyde solutions during hospital continuous use. J Pharm Belg. 1989 Mar-Apr; 44(2):127-32.
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      189. Mandel JL, Willard HF, Nussbaum RL, Romeo G, Puck JM, Davies KE. Report of the committee on the genetic constitution of the X chromosome. Cytogenet Cell Genet. 1989; 51(1-4):384-437.
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      190. Conley ME, Puck JM. Definition of the gene loci in X-linked immunodeficiencies. Immunol Invest. 1988 Jul; 17(5):425-63.
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      191. Conley ME, Puck JM. Carrier detection in typical and atypical X-linked agammaglobulinemia. J Pediatr. 1988 May; 112(5):688-94.
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      192. Conley ME, Lavoie A, Briggs C, Brown P, Guerra C, Puck JM. Nonrandom X chromosome inactivation in B cells from carriers of X chromosome-linked severe combined immunodeficiency. Proc Natl Acad Sci U S A. 1988 May; 85(9):3090-4.
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      193. Puck JM, Nussbaum RL, Conley ME. Carrier detection in X-linked severe combined immunodeficiency based on patterns of X chromosome inactivation. J Clin Invest. 1987 May; 79(5):1395-400.
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      194. Gold DP, Puck JM, Pettey CL, Cho M, Coligan J, Woody JN, Terhorst C. Isolation of cDNA clones encoding the 20K non-glycosylated polypeptide chain of the human T-cell receptor/T3 complex. Nature. 1986 May 22-28; 321(6068):431-4.
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      195. Van Lierde S, Puck JM, Campos JM, Plotkin SA. Branhamella catarrhalis sepsis. Pediatr Infect Dis. 1985 Sep-Oct; 4(5):562-3.
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      196. Croce CM, Isobe M, Palumbo A, Puck J, Ming J, Tweardy D, Erikson J, Davis M, Rovera G. Gene for alpha-chain of human T-cell receptor: location on chromosome 14 region involved in T-cell neoplasms. Science. 1985 Mar 1; 227(4690):1044-7.
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      197. Lewis DE, Puck JM, Babcock GF, Rich RR. Disproportionate expansion of a minor T cell subset in patients with lymphadenopathy syndrome and acquired immunodeficiency syndrome. J Infect Dis. 1985 Mar; 151(3):555-9.
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      198. Miller GP, Puck J. In vitro human lymphocyte responses to Cryptococcus neoformans. Evidence for primary and secondary responses in normals and infected subjects. J Immunol. 1984 Jul; 133(1):166-72.
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      199. Puck JM, Rich RR. Regulatory interactions governing the proliferation of T cell subsets stimulated with pokeweed mitogen. J Immunol. 1984 Mar; 132(3):1106-12.
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      200. Lewis DE, Puck JM, Babcock GF, Rich RR. Lymphocyte subsets in patients with acquired immunodeficiency syndrome (AIDS), aids-related complex (ARC), and acute viral infections. Trans Assoc Am Physicians. 1984; 97:197-204.
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      201. Abramson SL, Brown MF, Puck JM, Rich RR. Antigen presentation to human T lymphocytes. II. Requirements for Mac-120+ macrophages and responsiveness to interleukin 2. Cell Immunol. 1983 Mar; 76(2):379-89.
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      202. Puck JM, Abramson SL, Rich RR. Bromodeoxyuridine and light treatment enhances responsiveness of pokeweed mitogen-stimulated human lymphocytes to autologous and allogeneic determinants. Cell Immunol. 1982 Sep 1; 72(1):102-12.
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      203. Abramson SL, Puck JM, Rich RR. Antigen presentation to human T lymphocytes. I. Different requirements for stimulation by hapten-modified cells vs. cell sonicates. J Exp Med. 1981 Oct 1; 154(4):1005-15.
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      204. Parker P, Puck J, Fernandez F. Cerebral infarction associated with Mycoplasma pneumoniae. Pediatrics. 1981 Mar; 67(3):373-5.
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      205. Greenberg SB, Taber L, Septimus E, Kohl S, Puck J, Bryan RN. Computerized tomography in brain biopsy-proven herpes simplex encephalitis. Early normal results. Arch Neurol. 1981 Jan; 38(1):58-9.
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      206. Puck JM, Glezen WP, Frank AL, Six HR. Protection of infants from infection with influenza A virus by transplacentally acquired antibody. J Infect Dis. 1980 Dec; 142(6):844-9.
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      207. Frank AL, Puck J, Hughes BJ, Cate TR. Microneutralization test for influenza A and B and parainfluenza 1 and 2 viruses that uses continuous cell lines and fresh serum enhancement. J Clin Microbiol. 1980 Sep; 12(3):426-32.
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      208. Rich RR, Abramson SL, Seldin MF, Puck JM, Levy R. Role of Ia-positive cells in induction of secondary human immune responses to haptens in vitro. J Exp Med. 1980 Aug 1; 152(2 Pt 2):218s-234s.
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      209. Nussbaum R, Puck J. Recurrence risks for retinoblastoma: a model for autosomal dominant disorders with complex inheritance. J Pediatr Ophthalmol. 1976 Mar; 13(2):89-98.
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