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Jennifer Puck, MD

TitleProfessor
SchoolUCSF School of Medicine
DepartmentPediatrics
Address555 Mission Bay Blvd South
San Francisco CA 94158
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    Collapse Biography 
    Collapse Education and Training
    Harvard UniversityM.D.1975School of Medicine

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    Collapse Overview
    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 185 peer reviewed research papers in addition to over 100 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 widely adopted in newborn screening panels 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 National Academy of Medicine. 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.


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    Collapse Research Activities and Funding
    Ex Vivo Transduction of the Human Artemis (DCLRE1C) cDNA by Lentiviral Vector AProArt into CD34+ Hematopoietic Cells for Artemis (ART)-Deficient Severe Combined Immunodeficiency (SCID)
    CIRM CLIN1-08363May 1, 2016 - Nov 30, 2017
    Role: PI
    Functional Analysis of Candidate Genes in Primary T Cell Immunodeficiencies
    NIH/NIAID R21AI111208Sep 1, 2014 - Aug 31, 2016
    Role: Co-Principal Investigator
    Sequencing of Newborn Blood Spot DNA to Improve and Expand Newborn Screening
    NIH/NICHD U19HD077627Sep 5, 2013 - Aug 31, 2018
    Role: Principal Investigator
    Newborn Screening for T-Cell Disorders: Spectrum and Outcomes
    NIH/NIAID R01AI105776Aug 8, 2013 - Jul 31, 2017
    Role: Principal Investigator
    U.S. Immunodeficiency Network (USIDNet)
    NIH/NIAID U24 AI086037Apr 1, 2010 - Mar 31, 2019
    Role: Co-Investigator
    Role Description: UCSF PI, Steering Committee Member, Leader of PID sample repository, Co-Chair of Disease Specific Committee on SCID
    Inherited Disorders of Lymphocyte Development
    NIH/NIAID R01AI078248Dec 1, 2009 - Nov 30, 2015
    Role: Principal Investigator
    Primary Immune Deficiency Treatment Consortium
    NIH/NIAID U54AI082973Sep 12, 2009 - Aug 31, 2019
    Role: Co-Investigator
    Newborn Screening for SCID in a High-Risk Population
    NIH/NICHD R03HD060311Aug 1, 2008 - Jul 31, 2011
    Role: Principal Investigator
    GENETIC ANALYSIS OF IMMUNODEFICIENCY DISEASES
    NIH/NICHD R01HD023679Mar 1, 1988 - Jun 30, 1994
    Role: Principal Investigator
    GENE EXPRESSION DURING IMMUNOREGULATORY CELL DEVELOPMENT
    NIH/NICHD K11HD000657Sep 1, 1984 - Aug 31, 1989
    Role: Principal Investigator
    CLINICAL AND BASIC STUDIES IN SEVERE COMBINED IMMUNODEFI
    NIH/NHGRI Z01HG000010
    Role: Principal Investigator
    GENE TRANSFER FOR THERAPY OF IMMUNODEFICIENCY DISEASE
    NIH/NHGRI Z01HG000033
    Role: Principal Investigator
    MUTATIONS OF PROGRAMMED CELL DEATH GENE FAS
    NIH/NHGRI Z01HG000034
    Role: Principal Investigator
    GENETIC ANALYSIS OF HOST DEFENSE DISORDERS
    NIH/NHGRI Z01HG000116
    Role: Principal Investigator

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    Collapse Bibliographic 
    Collapse 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.
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    1. Schubert D, Klein MC, Hassdenteufel S, Caballero-Oteyza A, Yang L, Proietti M, Bulashevska A, Kemming J, Kühn J, Winzer S, Rusch S, Fliegauf M, Schäffer AA, Pfeffer S, Geiger R, Cavalié A, Cao H, Yang F, Li Y, Rizzi M, Eibel H, Kobbe R, Marks AL, Peppers BP, Hostoffer RW, Puck J, Zimmermann R, Grimbacher B. Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1). J Allergy Clin Immunol. 2017 Aug 04. PMID: 28782633.
      View in: PubMed
    2. Heimall J, Buckley RH, Puck J, Fleisher TA, Gennery AR, Haddad E, Neven B, Slatter M, Roderick S, Baker KS, Dietz AC, Duncan C, Griffith LM, Notarangelo L, Pulsipher MA, Cowan MJ. Recommendations for Screening and Management of Late Effects in Patients with Severe Combined Immunodeficiency after Allogenic Hematopoietic Cell Transplantation: A Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric HCT. Biol Blood Marrow Transplant. 2017 Aug; 23(8):1229-1240. PMID: 28479164.
      View in: PubMed
    3. Dvorak CC, Patel K, Puck J, Wahlstrom J, Dorsey MJ, Adams R, Facchino J, Cowan MJ. Unconditioned unrelated donor bone marrow transplantation for IL7Ra- and Artemis-deficient SCID. Bone Marrow Transplant. 2017 Jul; 52(7):1036-1038. PMID: 28436970.
      View in: PubMed
    4. Volpi S, Yamazaki Y, Brauer PM, van Rooijen E, Hayashida A, Slavotinek A, Sun Kuehn H, Di Rocco M, Rivolta C, Bortolomai I, Du L, Felgentreff K, Ott de Bruin L, Hayashida K, Freedman G, Marcovecchio GE, Capuder K, Rath P, Luche N, Hagedorn EJ, Buoncompagni A, Royer-Bertrand B, Giliani S, Poliani PL, Imberti L, Dobbs K, Poulain FE, Martini A, Manis J, Linhardt RJ, Bosticardo M, Rosenzweig SD, Lee H, Puck J, Zúñiga-Pflücker JC, Zon L, Park PW, Superti-Furga A, Notarangelo LD. EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay. J Exp Med. 2017 Mar 06; 214(3):623-637. PMID: 28148688.
      View in: PubMed
    5. Berg JS, Agrawal PB, Bailey DB, Beggs AH, Brenner SE, Brower AM, Cakici JA, Ceyhan-Birsoy O, Chan K, Chen F, Currier RJ, Dukhovny D, Green RC, Harris-Wai J, Holm IA, Iglesias B, Joseph G, Kingsmore SF, Koenig BA, Kwok PY, Lantos J, Leeder SJ, Lewis MA, McGuire AL, Milko LV, Mooney SD, Parad RB, Pereira S, Petrikin J, Powell BC, Powell CM, Puck J, Rehm HL, Risch N, Roche M, Shieh JT, Veeraraghavan N, Watson MS, Willig L, Yu TW, Urv T, Wise AL. Newborn Sequencing in Genomic Medicine and Public Health. Pediatrics. 2017 Feb; 139(2). PMID: 28096516.
      View in: PubMed
    6. Heimall J, Puck J, Buckley R, Fleisher TA, Gennery AR, Neven B, Slatter M, Haddad E, Notarangelo LD, Baker KS, Dietz AC, Duncan C, Pulsipher MA, Cowan MJ. Current Knowledge and Priorities for Future Research in Late Effects after Hematopoietic Stem Cell Transplantation (HCT) for Severe Combined Immunodeficiency Patients: A Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric HCT. Biol Blood Marrow Transplant. 2017 Mar; 23(3):379-387. PMID: 28068510.
      View in: PubMed
    7. Nguyen A, Patel K, Puck J, Dorsey M. Longstanding Eosinophilia in a Case of Late Diagnosis Chronic Granulomatous Disease. J Clin Immunol. 2017 Feb; 37(2):101-103. PMID: 27966181.
      View in: PubMed
    8. Punwani D, Zhang Y, Yu J, Cowan MJ, Rana S, Kwan A, Adhikari AN, Lizama CO, Mendelsohn BA, Fahl SP, Chellappan A, Srinivasan R, Brenner SE, Wiest DL, Puck J. Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B. N Engl J Med. 2016 12 01; 375(22):2165-2176. PMID: 27959755.
      View in: PubMed
    9. 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. 2016 Nov 01; 126(11):4389. PMID: 27801680.
      View in: PubMed
    10. Dulau Florea AE, Braylan RC, Schafernak KT, Williams KW, Daub J, Goyal RK, Puck J, Rao VK, Pittaluga S, Holland SM, Uzel G, Calvo KR. Abnormal B-cell maturation in the bone marrow of patients with germline mutations in PIK3CD. J Allergy Clin Immunol. 2017 Mar; 139(3):1032-1035.e6. PMID: 27697496.
      View in: PubMed
    11. Punwani D, Kawahara M, Yu J, Sanford U, Roy S, Patel K, Carbonaro DA, Karlen AD, Khan S, Cornetta KG, Rothe M, Schambach A, Kohn DB, Malech HL, McIvor RS, Puck J, Cowan MJ. Lentivirus Mediated Correction of Artemis-Deficient Severe Combined Immunodeficiency. Hum Gene Ther. 2017 Jan; 28(1):112-124. PMID: 27611239.
      View in: PubMed
    12. 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. PMID: 27468136.
      View in: PubMed
    13. 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. PMID: 27220317; PMCID: PMC4940441.
    14. 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 J, 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. PMID: 27189378; PMCID: PMC5039943 [Available on 07/01/17].
    15. 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 J, 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 07; 128(1):45-54. PMID: 27129325.
      View in: PubMed
    16. Griffith LM, Cowan MJ, Notarangelo LD, Kohn DB, Puck J, 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. PMID: 27262745; PMCID: PMC4986691 [Available on 08/01/17].
    17. 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 J. A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70. J Exp Med. 2016 Feb 08; 213(2):155-65. PMID: 26783323; PMCID: PMC4749924.
    18. Joseph G, Chen F, Harris-Wai J, Puck J, Young C, Koenig BA. Parental Views on Expanded Newborn Screening Using Whole-Genome Sequencing. Pediatrics. 2016 Jan; 137 Suppl 1:S36-46. PMID: 26729702; PMCID: PMC4939888.
    19. 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. PMID: 26776219.
      View in: PubMed
    20. Fischer A, Notarangelo LD, Neven B, Cavazzana M, Puck J. Severe combined immunodeficiencies and related disorders. Nat Rev Dis Primers. 2015 10 29; 1:15061. PMID: 27189259.
      View in: PubMed
    21. 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 J, 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. PMID: 26482257; PMCID: PMC4659841.
    22. 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 02; 125(11):4135-48. PMID: 26457731; PMCID: PMC4639965.
    23. 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 J, Sullivan KE, Tang ML. The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies. J Clin Immunol. 2015 Nov; 35(8):727-38. PMID: 26445875; PMCID: PMC4659854.
    24. Ahmed A, Reith W, Puck J, Cheng LE. Novel Mutation in the Class II Transactivator Associated with Immunodeficiency and Autoimmunity. J Clin Immunol. 2015 Aug; 35(6):521-2. PMID: 26271388.
      View in: PubMed
    25. Hsu AP, Pittaluga S, Martinez B, Rump AP, Raffeld M, Uzel G, Puck J, 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. PMID: 26076747; PMCID: PMC4504777.
    26. Kwan A, Puck J. History and current status of newborn screening for severe combined immunodeficiency. Semin Perinatol. 2015 Apr; 39(3):194-205. PMID: 25937517; PMCID: PMC4433840.
    27. 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 03; 348(6230):36-8. PMID: 25791083; PMCID: PMC4394183.
    28. Kwan A, Hu D, Song M, Gomes H, Brown DR, Bourque T, Gonzalez-Espinosa D, Lin Z, Cowan MJ, Puck J. Successful newborn screening for SCID in the Navajo Nation. Clin Immunol. 2015 May; 158(1):29-34. PMID: 25762520; PMCID: PMC4420660.
    29. Patel JP, Puck J, 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. PMID: 25677497; PMCID: PMC4352190.
    30. Punwani D, Pelz B, Yu J, Arva NC, Schafernak K, Kondratowicz K, Makhija M, Puck J. Coronin-1A: immune deficiency in humans and mice. J Clin Immunol. 2015 Feb; 35(2):100-7. PMID: 25666293; PMCID: PMC4489527.
    31. 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 J. Combined immunodeficiency due to MALT1 mutations, treated by hematopoietic cell transplantation. J Clin Immunol. 2015 Feb; 35(2):135-46. PMID: 25627829; PMCID: PMC4352191.
    32. 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 J. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA. 2014 Aug 20; 312(7):729-38. PMID: 25138334; PMCID: PMC4492158.
    33. 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 J, 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. PMID: 25075835; PMCID: PMC4183064.
    34. Dvorak CC, Horn BN, Puck J, 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. PMID: 24977928; PMCID: PMC4134761.
    35. Dvorak CC, Horn BN, Puck J, 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. PMID: 24977650.
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    36. 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 J, 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. PMID: 24795713; PMCID: PMC4001072.
    37. Sullivan KE, Puck J, 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. PMID: 24711005; PMCID: PMC4046905.
    38. Shearer WT, Fleisher TA, Buckley RH, Ballas Z, Ballow M, Blaese RM, Bonilla FA, Conley ME, Cunningham-Rundles C, Filipovich AH, Fuleihan R, Gelfand EW, Hernandez-Trujillo V, Holland SM, Hong R, Lederman HM, Malech HL, Miles S, Notarangelo LD, Ochs HD, Orange JS, Puck J, Routes JM, Stiehm ER, Sullivan K, Torgerson T, Winkelstein J. Recommendations for live viral and bacterial vaccines in immunodeficient patients and their close contacts. J Allergy Clin Immunol. 2014 Apr; 133(4):961-6. PMID: 24582311; PMCID: PMC4009347.
    39. 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. PMID: 24506932; PMCID: PMC4489526.
    40. Sowerwine KJ, Shaw PA, Gu W, Ling JC, Collins MT, Darnell DN, Anderson VL, Davis J, Hsu A, Welch P, Puck J, Holland SM, Freeman AF. Bone density and fractures in autosomal dominant hyper IgE syndrome. J Clin Immunol. 2014 Feb; 34(2):260-4. PMID: 24402620; PMCID: PMC4484798.
    41. Price S, Shaw PA, Seitz A, Joshi G, Davis J, Niemela JE, Perkins K, Hornung RL, Folio L, Rosenberg PS, Puck J, 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. PMID: 24398331; PMCID: PMC3968385.
    42. 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 J, 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):1099-108. PMID: 24290284; PMCID: PMC4005599.
    43. Shearer WT, Dunn E, Notarangelo LD, Dvorak CC, Puck J, 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. PMID: 24290292; PMCID: PMC3972266.
    44. Griffith LM, Cowan MJ, Notarangelo LD, Kohn DB, Puck J, 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):335-47. PMID: 24139498; PMCID: PMC3960312.
    45. Dvorak CC, Cowan MJ, Logan BR, Notarangelo LD, Griffith LM, Puck J, 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. PMID: 23818196; PMCID: PMC3784642.
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    218. 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. PMID: 2506326.
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    219. Mandel JL, Willard HF, Nussbaum RL, Romeo G, Puck J, Davies KE. Report of the committee on the genetic constitution of the X chromosome. Cytogenet Cell Genet. 1989; 51(1-4):384-437. PMID: 2676379.
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    220. Conley ME, Puck J. Definition of the gene loci in X-linked immunodeficiencies. Immunol Invest. 1988 Jul; 17(5):425-63. PMID: 3058586.
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    221. Conley ME, Lavoie A, Briggs C, Brown P, Guerra C, Puck J. 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. PMID: 2896355; PMCID: PMC280149.
    222. Conley ME, Puck J. Carrier detection in typical and atypical X-linked agammaglobulinemia. J Pediatr. 1988 May; 112(5):688-94. PMID: 2896233.
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    223. Puck J, 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. PMID: 2883199; PMCID: PMC424401.
    224. Gold DP, Puck J, 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. PMID: 3012357.
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    225. Van Lierde S, Puck J, Campos JM, Plotkin SA. Branhamella catarrhalis sepsis. Pediatr Infect Dis. 1985 Sep-Oct; 4(5):562-3. PMID: 4047969.
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    226. Lewis DE, Puck J, 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. PMID: 3156193.
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    227. 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 01; 227(4690):1044-7. PMID: 3919442.
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    228. 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. PMID: 6373927.
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    229. Puck J, Rich RR. Regulatory interactions governing the proliferation of T cell subsets stimulated with pokeweed mitogen. J Immunol. 1984 Mar; 132(3):1106-12. PMID: 6229576.
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    230. Lewis DE, Puck J, 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. PMID: 6398947.
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    231. Abramson SL, Brown MF, Puck J, 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. PMID: 6601522.
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    232. Puck J, 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 01; 72(1):102-12. PMID: 6184170.
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    233. Abramson SL, Puck J, 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 01; 154(4):1005-15. PMID: 6974758; PMCID: PMC2186480.
    234. Parker P, Puck J, Fernandez F. Cerebral infarction associated with Mycoplasma pneumoniae. Pediatrics. 1981 Mar; 67(3):373-5. PMID: 7243475.
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    235. 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. PMID: 6970031.
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    236. Puck J, 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. PMID: 7462695.
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    237. 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. PMID: 6260835; PMCID: PMC273601.
    238. Rich RR, Abramson SL, Seldin MF, Puck J, Levy R. Role of Ia-positive cells in induction of secondary human immune responses to haptens in vitro. J Exp Med. 1980 Aug 01; 152(2 Pt 2):218s-234s. PMID: 6967938.
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    239. 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. PMID: 1018187.
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