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Jennifer Puck, MD

TitleProfessor
InstitutionUniversity of California San Francisco
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

    Collapse Overview 
    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.


    Collapse Research 
    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
    Primary Immune Deficiency Treatment Consortium Annual Scientific Meeting
    NIH/NIAID R13AI094943Mar 2, 2011 - Feb 29, 2020
    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

    Collapse ORNG Applications 
    Collapse Global Health
    Collapse Websites
    Collapse In The News

    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.
    List All   |   Timeline
    1. Miggelbrink AM, Logan BR, Buckley RH, Parrott RE, Dvorak CC, Kapoor N, Abdel-Azim H, Prockop SE, Shyr D, Decaluwe H, Hanson IC, Gillio A, Dávila Saldaña BJ, Eibel H, Hopkins G, Walter JE, Whangbo JS, Kohn DB, Puck J, Cowan MJ, Griffith LM, Haddad E, O'Reilly RJ, Notarangelo LD, Pai SY. B cell differentiation and IL-21 response in IL2RG/JAK3 SCID patients after hematopoietic stem cell transplantation. Blood. 2018 May 04. PMID: 29728406.
      View in: PubMed
    2. Bousfiha A, Jeddane L, Picard C, Ailal F, Bobby Gaspar H, Al-Herz W, Chatila T, Crow YJ, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Puck J, Tang MLK, Tangye SG, Torgerson TR, Casanova JL, Sullivan KE. The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies. J Clin Immunol. 2018 Jan; 38(1):129-143. PMID: 29226301.
      View in: PubMed
    3. Picard C, Bobby Gaspar H, Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Crow YJ, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Puck J, Tang MLK, Tangye SG, Torgerson TR, Sullivan KE. International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity. J Clin Immunol. 2018 Jan; 38(1):96-128. PMID: 29226302.
      View in: PubMed
    4. Bassaganyas L, Freedman G, Vaka D, Wan E, Lao R, Chen F, Kvale M, Currier RJ, Puck J, Kwok PY. Whole exome and whole genome sequencing with dried blood spot DNA without whole genome amplification. Hum Mutat. 2018 Jan; 39(1):167-171. PMID: 29067733.
      View in: PubMed
    5. Heimall J, Logan BR, Cowan MJ, Notarangelo LD, Griffith LM, Puck J, Kohn DB, Pulsipher MA, Parikh S, Martinez C, Kapoor N, O'Reilly R, Boyer M, Pai SY, Goldman F, Burroughs L, Chandra S, Kletzel M, Thakar M, Connelly J, Cuvelier G, Davila Saldana BJ, Shereck E, Knutsen A, Sullivan KE, DeSantes K, Gillio A, Haddad E, Petrovic A, Quigg T, Smith AR, Stenger E, Yin Z, Shearer WT, Fleisher T, Buckley RH, Dvorak CC. Immune reconstitution and survival of 100 SCID patients post-hematopoietic cell transplant: a PIDTC natural history study. Blood. 2017 12 21; 130(25):2718-2727. PMID: 29021228.
      View in: PubMed
    6. Gernez Y, Freeman AF, Holland SM, Garabedian E, Patel NC, Puck J, Sullivan KE, Akhter J, Secord E, Chen K, Buckley R, Haddad E, Ochs HD, Fuleihan R, Routes J, Muskat M, Lugar P, Mancini J, Cunningham-Rundles C. Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry. J Allergy Clin Immunol Pract. 2017 Sep 19. PMID: 28939137.
      View in: PubMed
    7. Dvorak CC, Puck J, Wahlstrom JT, Dorsey M, Melton A, Cowan MJ. Neurologic event-free survival demonstrates a benefit for SCID patients diagnosed by newborn screening. Blood Adv. 2017 Sep 12; 1(20):1694-1698. PMID: 29296816.
      View in: PubMed
    8. 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. 2018 Apr; 141(4):1427-1438. PMID: 28782633.
      View in: PubMed
    9. 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
    10. Jyonouchi S, Jongco AM, Puck J, Sullivan KE. Immunodeficiencies Associated with Abnormal Newborn Screening for T Cell and B Cell Lymphopenia. J Clin Immunol. 2017 May; 37(4):363-374. PMID: 28353166.
      View in: PubMed
    11. Dorsey MJ, Dvorak CC, Cowan MJ, Puck J. Treatment of infants identified as having severe combined immunodeficiency by means of newborn screening. J Allergy Clin Immunol. 2017 Mar; 139(3):733-742. PMID: 28270365.
      View in: PubMed
    12. 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
    13. 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
    14. 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
    15. 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
    16. 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
    17. 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
    18. 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
    19. Punwani D, Kawahara M, Yu J, Sanford U, Roy S, Patel K, Carbonaro DA, Karlen AD, Khan S, Cornetta K, 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 01; 28(1):112-124. PMID: 27611239.
      View in: PubMed
    20. 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 10; 8(10):1175-86. PMID: 27468136.
      View in: PubMed
    21. 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.
    22. 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].
    23. 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 07 07; 128(1):45-54. PMID: 27129325.
      View in: PubMed
    24. 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.
      View in: PubMed
    25. 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.
    26. 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
    27. 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.
    28. 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
    29. 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.
      View in: PubMed
    30. 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.
    31. 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.
      View in: PubMed
    32. 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
    33. 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.
      View in: PubMed
    34. 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.
    35. 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.
    36. 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.
      View in: PubMed
    37. 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.
    38. 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.
    39. 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.
    40. 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, Bonagura VR. 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.
    41. 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.
    42. 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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    43. 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.
    44. 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.
    45. 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.
    46. 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.
    47. 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.
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    48. 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.
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