Jennifer Puck
Professor
+1 415 502-5127

Biography

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.

Education and Training

M.D., 1975 School of Medicine, Harvard University

Publications

Anzilotti C, Swan DJ, Boisson B, Deobagkar-Lele M, Oliveira C, Chabosseau P, Engelhardt KR, Xu X, Chen R, Alvarez L, Berlinguer-Palmini R, Bull KR, Cawthorne E, Cribbs AP, Crockford TL, Dang TS, Fearn A, Fenech EJ, de Jong SJ, Lagerholm BC, Ma CS, Sims D, van den Berg B, Xu Y, Cant AJ, Kleiner G, Leahy TR, de la Morena MT, Puck JM, Shapiro RS, van der Burg M, Chapman JR, Christianson JC, Davies B, McGrath JA, Przyborski S, Santibanez Koref M, Tangye SG, Werner A, Rutter GA, Padilla-Parra S, Casanova JL, Cornall RJ, Conley ME, Hambleton S. An essential role for the Zn2+ transporter ZIP7 in B cell development. Nat Immunol. 2019 Feb 04.
Puck JM. Newborn screening for severe combined immunodeficiency and T-cell lymphopenia. Immunol Rev. 2019 Jan; 287(1):241-252.
Dorsey MJ, Puck JM. Newborn Screening for Severe Combined Immunodeficiency in the United States: Lessons Learned. Immunol Allergy Clin North Am. 2019 Feb; 39(1):1-11.
Kohn DB, Hershfield MS, Puck JM, Aiuti A, Blincoe A, Gaspar HB, Notarangelo LD, Grunebaum E. Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency. J Allergy Clin Immunol. 2018 Sep 05.
Dvorak CC, Haddad E, Buckley RH, Cowan MJ, Logan B, Griffith LM, Kohn DB, Pai SY, Notarangelo L, Shearer W, Prockop S, Kapoor N, Heimall J, Chaudhury S, Shyr D, Chandra S, Cuvelier G, Moore T, Shenoy S, Goldman F, Smith AR, Sunkersett G, Vander Lugt M, Caywood E, Quigg T, Torgerson T, Chandrakasan S, Craddock J, Dávila Saldaña BJ, Gillio A, Shereck E, Aquino V, DeSantes K, Knutsen A, Thakar M, Yu L, Puck JM. The genetic landscape of severe combined immunodeficiency in the United States and Canada in the current era (2010-2018). J Allergy Clin Immunol. 2019 Jan; 143(1):405-407.
Haddad E, Logan BR, Griffith LM, Buckley RH, Parrott RE, Prockop SE, Small TN, Chaisson J, Dvorak CC, Murnane M, Kapoor N, Abdel-Azim H, Hanson IC, Martinez C, Bleesing JJH, Chandra S, Smith AR, Cavanaugh ME, Jyonouchi S, Sullivan KE, Burroughs L, Skoda-Smith S, Haight AE, Tumlin AG, Quigg TC, Taylor C, Dávila Saldaña BJ, Keller MD, Seroogy CM, Desantes KB, Petrovic A, Leiding JW, Shyr DC, Decaluwe H, Teira P, Gillio AP, Knutsen AP, Moore TB, Kletzel M, Craddock JA, Aquino V, Davis JH, Yu LC, Cuvelier GDE, Bednarski JJ, Goldman FD, Kang EM, Shereck E, Porteus MH, Connelly JA, Fleisher TA, Malech HL, Shearer WT, Szabolcs P, Thakar MS, Vander Lugt MT, Heimall J, Yin Z, Pulsipher MA, Pai SY, Kohn DB, Puck JM, Cowan MJ, O'Reilly RJ, Notarangelo LD. SCID genotype and 6-month posttransplant CD4 count predict survival and immune recovery. Blood. 2018 Oct 25; 132(17):1737-1749.
Puck JM. Lessons for Sequencing from the Addition of Severe Combined Immunodeficiency to Newborn Screening Panels. Hastings Cent Rep. 2018 Jul; 48 Suppl 2:S7-S9.
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 JM, 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 Jun 28; 131(26):2967-2977.
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.
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.
Bassaganyas L, Freedman G, Vaka D, Wan E, Lao R, Chen F, Kvale M, Currier RJ, Puck JM, Kwok PY. Whole exome and whole genome sequencing with dried blood spot DNA without whole genome amplification. Hum Mutat. 2018 01; 39(1):167-171.
Heimall J, Logan BR, Cowan MJ, Notarangelo LD, Griffith LM, Puck JM, 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.
Gernez Y, Freeman AF, Holland SM, Garabedian E, Patel NC, Puck JM, 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. 2018 May - Jun; 6(3):996-1001.
Dvorak CC, Puck JM, 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.
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 JM, 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.
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.
Dvorak CC, Patel K, Puck JM, 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 07; 52(7):1036-1038.
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.
Dorsey MJ, Dvorak CC, Cowan MJ, Puck JM. Treatment of infants identified as having severe combined immunodeficiency by means of newborn screening. J Allergy Clin Immunol. 2017 Mar; 139(3):733-742.
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 JM, 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 03 06; 214(3):623-637.
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 JM, 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).
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.
Nguyen A, Patel K, Puck J, Dorsey M. Longstanding Eosinophilia in a Case of Late Diagnosis Chronic Granulomatous Disease. J Clin Immunol. 2017 02; 37(2):101-103.
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 JM. Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B. N Engl J Med. 2016 12 01; 375(22):2165-2176.
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 11 01; 126(11):4389.
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 JM, Cowan MJ. Lentivirus Mediated Correction of Artemis-Deficient Severe Combined Immunodeficiency. Hum Gene Ther. 2017 01; 28(1):112-124.
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.
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 08; 36(6):571-82.
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 JM, Sullivan K, Secord EA, Ramesh M, Cunningham-Rundles C. Hyper IgM Syndrome: a Report from the USIDNET Registry. J Clin Immunol. 2016 07; 36(5):490-501.
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 JM, 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.
Griffith LM, Cowan MJ, Notarangelo LD, Kohn DB, Puck JM, Shearer WT, Burroughs LM, Torgerson TR, Decaluwe H, Haddad E. Primary Immune Deficiency Treatment Consortium (PIDTC) update. J Allergy Clin Immunol. 2016 08; 138(2):375-85.
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 JM. 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.
Joseph G, Chen F, Harris-Wai J, Puck JM, Young C, Koenig BA. Parental Views on Expanded Newborn Screening Using Whole-Genome Sequencing. Pediatrics. 2016 Jan; 137 Suppl 1:S36-46.
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.
Fischer A, Notarangelo LD, Neven B, Cavazzana M, Puck JM. Severe combined immunodeficiencies and related disorders. Nat Rev Dis Primers. 2015 10 29; 1:15061.
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 JM, 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.
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.
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 JM, Sullivan KE, Tang ML. The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies. J Clin Immunol. 2015 Nov; 35(8):727-38.
Ahmed A, Reith W, Puck JM, Cheng LE. Novel Mutation in the Class II Transactivator Associated with Immunodeficiency and Autoimmunity. J Clin Immunol. 2015 Aug; 35(6):521-2.
Hsu AP, Pittaluga S, Martinez B, Rump AP, Raffeld M, Uzel G, Puck JM, 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.
Kwan A, Puck JM. History and current status of newborn screening for severe combined immunodeficiency. Semin Perinatol. 2015 Apr; 39(3):194-205.
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.
Kwan A, Hu D, Song M, Gomes H, Brown DR, Bourque T, Gonzalez-Espinosa D, Lin Z, Cowan MJ, Puck JM. Successful newborn screening for SCID in the Navajo Nation. Clin Immunol. 2015 May; 158(1):29-34.
Patel JP, Puck JM, 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.
Punwani D, Pelz B, Yu J, Arva NC, Schafernak K, Kondratowicz K, Makhija M, Puck JM. Coronin-1A: immune deficiency in humans and mice. J Clin Immunol. 2015 Feb; 35(2):100-7.
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 JM. Combined immunodeficiency due to MALT1 mutations, treated by hematopoietic cell transplantation. J Clin Immunol. 2015 Feb; 35(2):135-46.
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, Bonagura VR. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA. 2014 Aug 20; 312(7):729-38.
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.
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.
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.
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.
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.
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 JM, 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.
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.
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.
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.
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):1099-108.
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.
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):335-47.
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.
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.
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.
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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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.
Yong PF, Freeman AF, Engelhardt KR, Holland S, Puck JM, Grimbacher B. An update on the hyper-IgE syndromes. Arthritis Res Ther. 2012 Nov 30; 14(6):228.
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.
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.
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.
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 01; 189(3):1253-64.
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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.
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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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.
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.
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.
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.
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.
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.
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 04; 205(8):1729-37.
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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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.
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.
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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Shearer WT, Malech HL, Puck JM. Primary immunodeficiency: meeting the challenges. J Allergy Clin Immunol. 2007 Oct; 120(4):753-5.
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.
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.
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 Jul 02; 8:41.
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.
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.
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.
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 01; 110(1):67-73.
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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Puck JM, Candotti F. Lessons from the Wiskott-Aldrich syndrome. N Engl J Med. 2006 Oct 26; 355(17):1759-61.
Freeman AF, Davis J, Anderson VL, Barson W, Darnell DN, Puck JM, Holland SM. Pneumocystis jiroveci infection in patients with hyper-immunoglobulin E syndrome. Pediatrics. 2006 Oct; 118(4):e1271-5.
Candotti F, Roifman C, Puck JM. Immunodeficiencies: injecting some safety into SCID gene therapy? Gene Ther. 2006 May; 13(9):741-3.
Kellermayer R, Hsu AP, Stankovics J, Balogh P, Hadzsiev K, Vojcek A, Maródi L, Kajtár P, Kosztolányi G, Puck JM. A novel IL2RG mutation associated with maternal T lymphocyte engraftment in a patient with severe combined immunodeficiency. J Hum Genet. 2006; 51(5):495-7.
Puck JM, Malech HL. Gene therapy for immune disorders: good news tempered by bad news. J Allergy Clin Immunol. 2006 Apr; 117(4):865-9.
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Rao VK, Carrasquillo JA, Dale JK, Bacharach SL, Whatley M, Dugan F, Tretler J, Fleisher T, Puck JM, Wilson W, Jaffe ES, Avila N, Chen CC, Straus SE. Fluorodeoxyglucose positron emission tomography (FDG-PET) for monitoring lymphadenopathy in the autoimmune lymphoproliferative syndrome (ALPS). Am J Hematol. 2006 Feb; 81(2):81-5.
Zhu S, Hsu AP, Vacek MM, Zheng L, Schäffer AA, Dale JK, Davis J, Fischer RE, Straus SE, Boruchov D, Saulsbury FT, Lenardo MJ, Puck JM. Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome. Hum Genet. 2006 Apr; 119(3):284-94.
Niemela JE, Hsu AP, Fleisher TA, Puck JM. Single nucleotide polymorphisms in the apoptosis receptor gene TNFRSF6. Mol Cell Probes. 2006 Feb; 20(1):21-6.
Vacek MM, Schäffer AA, Davis J, Fischer RE, Dale JK, Adams S, Straus SE, Puck JM. HLA B44 is associated with decreased severity of autoimmune lymphoproliferative syndrome in patients with CD95 defects (ALPS type Ia). Clin Immunol. 2006 Jan; 118(1):59-65.
Maric I, Pittaluga S, Dale JK, Niemela JE, Delsol G, Diment J, Rosai J, Raffeld M, Puck JM, Straus SE, Jaffe ES. Histologic features of sinus histiocytosis with massive lymphadenopathy in patients with autoimmune lymphoproliferative syndrome. Am J Surg Pathol. 2005 Jul; 29(7):903-11.
Vogt G, Chapgier A, Yang K, Chuzhanova N, Feinberg J, Fieschi C, Boisson-Dupuis S, Alcais A, Filipe-Santos O, Bustamante J, de Beaucoudrey L, Al-Mohsen I, Al-Hajjar S, Al-Ghonaium A, Adimi P, Mirsaeidi M, Khalilzadeh S, Rosenzweig S, de la Calle Martin O, Bauer TR, Puck JM, Ochs HD, Furthner D, Engelhorn C, Belohradsky B, Mansouri D, Holland SM, Schreiber RD, Abel L, Cooper DN, Soudais C, Casanova JL. Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. Nat Genet. 2005 Jul; 37(7):692-700.
Rao VK, Dugan F, Dale JK, Davis J, Tretler J, Hurley JK, Fleisher T, Puck J, Straus SE. Use of mycophenolate mofetil for chronic, refractory immune cytopenias in children with autoimmune lymphoproliferative syndrome. Br J Haematol. 2005 May; 129(4):534-8.
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Puck JM, Straus SE. Somatic mutations--not just for cancer anymore. N Engl J Med. 2004 Sep 30; 351(14):1388-90.
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Notarangelo L, Casanova JL, Fischer A, Puck J, Rosen F, Seger R, Geha R. Primary immunodeficiency diseases: an update. J Allergy Clin Immunol. 2004 Sep; 114(3):677-87.
Tock CL, Holland SM, Puck JM, Turner ML. A man with distinctive facial features and recurrent pyoderma, pneumonia, and skeletal fractures. J Am Acad Dermatol. 2004 Apr; 50(4):627-9.
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Hay BN, Martin JE, Karp B, Davis J, Darnell D, Solomon B, Turner M, Holland SM, Puck JM. Familial immunodeficiency with cutaneous vasculitis, myoclonus, and cognitive impairment. Am J Med Genet A. 2004 Mar 01; 125A(2):145-51.
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Hale LP, Buckley RH, Puck JM, Patel DD. Abnormal development of thymic dendritic and epithelial cells in human X-linked severe combined immunodeficiency. Clin Immunol. 2004 Jan; 110(1):63-70.
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Goldman FD, Vibhakar R, Puck JM, Straus SE, Ballas ZK, Hollenback C, Loew T, Thompson A, Song K, Cook RT. Aberrant T-cell antigen receptor-mediated responses in autoimmune lymphoproliferative syndrome. Clin Immunol. 2002 Jul; 104(1):31-9.
Tsai EJ, Malech HL, Kirby MR, Hsu AP, Seidel NE, Porada CD, Zanjani ED, Bodine DM, Puck JM. Retroviral transduction of IL2RG into CD34(+) cells from X-linked severe combined immunodeficiency patients permits human T- and B-cell development in sheep chimeras. Blood. 2002 Jul 01; 100(1):72-9.
Choi Y, Simon-Stoos K, Puck JM. Hypo-active variant of IL-2 and associated decreased T cell activation contribute to impaired apoptosis in autoimmune prone MRL mice. Eur J Immunol. 2002 03; 32(3):677-85.
Licht T, Haskins M, Henthorn P, Kleiman SE, Bodine DM, Whitwam T, Puck JM, Gottesman MM, Melniczek JR. Drug selection with paclitaxel restores expression of linked IL-2 receptor gamma -chain and multidrug resistance (MDR1) transgenes in canine bone marrow. Proc Natl Acad Sci U S A. 2002 Mar 05; 99(5):3123-8.
Myers LA, Patel DD, Puck JM, Buckley RH. Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival. Blood. 2002 Feb 01; 99(3):872-8.
Bleesing JJ, Brown MR, Straus SE, Dale JK, Siegel RM, Johnson M, Lenardo MJ, Puck JM, Fleisher TA. Immunophenotypic profiles in families with autoimmune lymphoproliferative syndrome. Blood. 2001 Oct 15; 98(8):2466-73.
Bleesing JJ, Brown MR, Dale JK, Straus SE, Lenardo MJ, Puck JM, Atkinson TP, Fleisher TA. TcR-alpha/beta(+) CD4(-)CD8(-) T cells in humans with the autoimmune lymphoproliferative syndrome express a novel CD45 isoform that is analogous to murine B220 and represents a marker of altered O-glycan biosynthesis. Clin Immunol. 2001 Sep; 100(3):314-24.
Atkinson TP, Schäffer AA, Grimbacher B, Schroeder HW, Woellner C, Zerbe CS, Puck JM. An immune defect causing dominant chronic mucocutaneous candidiasis and thyroid disease maps to chromosome 2p in a single family. Am J Hum Genet. 2001 Oct; 69(4):791-803.
Straus SE, Jaffe ES, Puck JM, Dale JK, Elkon KB, Rösen-Wolff A, Peters AM, Sneller MC, Hallahan CW, Wang J, Fischer RE, Jackson CE, Lin AY, Bäumler C, Siegert E, Marx A, Vaishnaw AK, Grodzicky T, Fleisher TA, Lenardo MJ. The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis. Blood. 2001 07 01; 98(1):194-200.
Lopatin U, Yao X, Williams RK, Bleesing JJ, Dale JK, Wong D, Teruya-Feldstein J, Fritz S, Morrow MR, Fuss I, Sneller MC, Raffeld M, Fleisher TA, Puck JM, Strober W, Jaffe ES, Straus SE. Increases in circulating and lymphoid tissue interleukin-10 in autoimmune lymphoproliferative syndrome are associated with disease expression. Blood. 2001 May 15; 97(10):3161-70.
Avilés Mendoza GJ, Seidel NE, Otsu M, Anderson SM, Simon-Stoos K, Herrera A, Hoogstraten-Miller S, Malech HL, Candotti F, Puck JM, Bodine DM. Comparison of five retrovirus vectors containing the human IL-2 receptor gamma chain gene for their ability to restore T and B lymphocytes in the X-linked severe combined immunodeficiency mouse model. Mol Ther. 2001 Apr; 3(4):565-73.
Fleisher TA, Puck JM, Strober W, Dale JK, Lenardo MJ, Siegel RM, Straus SE, Bleesing JJ. The autoimmune lymphoproliferative syndrome. A disorder of human lymphocyte apoptosis. Clin Rev Allergy Immunol. 2001 Feb; 20(1):109-20.
Fanos JH, Puck JM. Family pictures: growing up with a brother with X-linked severe combined immunodeficiency. Am J Med Genet. 2001 Jan 01; 98(1):57-63.
Vihinen M, Arredondo-Vega FX, Casanova JL, Etzioni A, Giliani S, Hammarström L, Hershfield MS, Heyworth PG, Hsu AP, Lähdesmäki A, Lappalainen I, Notarangelo LD, Puck JM, Reith W, Roos D, Schumacher RF, Schwarz K, Vezzoni P, Villa A, Väliaho J, Smith CI. Primary immunodeficiency mutation databases. Adv Genet. 2001; 43:103-88.
Fanos JH, Davis J, Puck JM. Sib understanding of genetics and attitudes toward carrier testing for X-linked severe combined immunodeficiency. Am J Med Genet. 2001 Jan 01; 98(1):46-56.
Puck JM. A disease gene for autosomal hyper-IgM syndrome: more genes associated with more immunodeficiencies. Clin Immunol. 2000 Dec; 97(3):191-2.
Davis J, Krasnewich D, Puck JM. Genetic testing and screening in pediatric populations. Nurs Clin North Am. 2000 Sep; 35(3):643-51.
Niemela JE, Puck JM, Fischer RE, Fleisher TA, Hsu AP. Efficient detection of thirty-seven new IL2RG mutations in human X-linked severe combined immunodeficiency. Clin Immunol. 2000 Apr; 95(1 Pt 1):33-8.
O'Connell AC, Puck JM, Grimbacher B, Facchetti F, Majorana A, Gallin JI, Malech HL, Holland SM. Delayed eruption of permanent teeth in hyperimmunoglobulinemia E recurrent infection syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2000 Feb; 89(2):177-85.
Otsu M, Anderson SM, Bodine DM, Puck JM, O'Shea JJ, Candotti F. Lymphoid development and function in X-linked severe combined immunodeficiency mice after stem cell gene therapy. Mol Ther. 2000 Feb; 1(2):145-53.
Jackson CE, Puck JM. Autoimmune lymphoproliferative syndrome, a disorder of apoptosis. Curr Opin Pediatr. 1999 Dec; 11(6):521-7.
Choi Y, Ramnath VR, Eaton AS, Chen A, Simon-Stoos KL, Kleiner DE, Erikson J, Puck JM. Expression in transgenic mice of dominant interfering Fas mutations: a model for human autoimmune lymphoproliferative syndrome. Clin Immunol. 1999 Oct; 93(1):34-45.
Grimbacher B, Schäffer AA, Holland SM, Davis J, Gallin JI, Malech HL, Atkinson TP, Belohradsky BH, Buckley RH, Cossu F, Español T, Garty BZ, Matamoros N, Myers LA, Nelson RP, Ochs HD, Renner ED, Wellinghausen N, Puck JM. Genetic linkage of hyper-IgE syndrome to chromosome 4. Am J Hum Genet. 1999 Sep; 65(3):735-44.
Wang J, Zheng L, Lobito A, Chan FK, Dale J, Sneller M, Yao X, Puck JM, Straus SE, Lenardo MJ. Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II. Cell. 1999 Jul 09; 98(1):47-58.
Grimbacher B, Dutra AS, Holland SM, Fischer RE, Pao M, Gallin JI, Puck JM. Analphoid marker chromosome in a patient with hyper-IgE syndrome, autism, and mild mental retardation. Genet Med. 1999 Jul-Aug; 1(5):213-8.
Avila NA, Dwyer AJ, Dale JK, Lopatin UA, Sneller MC, Jaffe ES, Puck JM, Straus SE. Autoimmune lymphoproliferative syndrome: a syndrome associated with inherited genetic defects that impair lymphocytic apoptosis--CT and US features. Radiology. 1999 Jul; 212(1):257-63.
Tangsinmankong N, Day NK, Nelson RP, Puck J, Good RA. Severe combined immunodeficiency in an infant with multiple congenital abnormalities. J Allergy Clin Immunol. 1999 Jun; 103(6):1222-3.
Whitwam T, Haskins ME, Henthorn PS, Bodine DM, Puck JM. Canine lymphocyte expression of retrovirally transferred human common gamma chain. Ann N Y Acad Sci. 1999 Apr 30; 872:387-90.
Martin DA, Zheng L, Siegel RM, Huang B, Fisher GH, Wang J, Jackson CE, Puck JM, Dale J, Straus SE, Peter ME, Krammer PH, Fesik S, Lenardo MJ. Defective CD95/APO-1/Fas signal complex formation in the human autoimmune lymphoproliferative syndrome, type Ia. Proc Natl Acad Sci U S A. 1999 Apr 13; 96(8):4552-7.
Straus SE, Sneller M, Lenardo MJ, Puck JM, Strober W. An inherited disorder of lymphocyte apoptosis: the autoimmune lymphoproliferative syndrome. Ann Intern Med. 1999 Apr 06; 130(7):591-601.
Jackson CE, Fischer RE, Hsu AP, Anderson SM, Choi Y, Wang J, Dale JK, Fleisher TA, Middelton LA, Sneller MC, Lenardo MJ, Straus SE, Puck JM. Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. Am J Hum Genet. 1999 Apr; 64(4):1002-14.
Grimbacher B, Holland SM, Gallin JI, Greenberg F, Hill SC, Malech HL, Miller JA, O'Connell AC, Puck JM. Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder. N Engl J Med. 1999 Mar 04; 340(9):692-702.
Lim MS, Straus SE, Dale JK, Fleisher TA, Stetler-Stevenson M, Strober W, Sneller MC, Puck JM, Lenardo MJ, Elenitoba-Johnson KS, Lin AY, Raffeld M, Jaffe ES. Pathological findings in human autoimmune lymphoproliferative syndrome. Am J Pathol. 1998 Nov; 153(5):1541-50.
Infante AJ, Britton HA, DeNapoli T, Middelton LA, Lenardo MJ, Jackson CE, Wang J, Fleisher T, Straus SE, Puck JM. The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis. J Pediatr. 1998 Nov; 133(5):629-33.
Whitwam T, Haskins ME, Henthorn PS, Kraszewski JN, Kleiman SE, Seidel NE, Bodine DM, Puck JM. Retroviral marking of canine bone marrow: long-term, high-level expression of human interleukin-2 receptor common gamma chain in canine lymphocytes. Blood. 1998 Sep 01; 92(5):1565-75.
Kleiman SE, Pastan I, Puck JM, Gottesman MM. Characterization of an MDR1 retroviral bicistronic vector for correction of X-linked severe combined immunodeficiency. Gene Ther. 1998 May; 5(5):671-6.
Grimbacher B, Holland SM, Puck JM. The interleukin-4 receptor variant Q576R in hyper-IgE syndrome. N Engl J Med. 1998 Apr 09; 338(15):1073-4.
Puck JM, Willard HF. X inactivation in females with X-linked disease. N Engl J Med. 1998 Jan 29; 338(5):325-8.
Puck JM. Primary immunodeficiency diseases. JAMA. 1997 Dec 10; 278(22):1835-41.
Straus SE, Lenardo M, Puck JM. The Canale-Smith syndrome. N Engl J Med. 1997 May 15; 336(20):1457; author reply 1457-8.
Puck JM, Middelton L, Pepper AE. Carrier and prenatal diagnosis of X-linked severe combined immunodeficiency: mutation detection methods and utilization. Hum Genet. 1997 May; 99(5):628-33.
Puck JM, Pepper AE, Henthorn PS, Candotti F, Isakov J, Whitwam T, Conley ME, Fischer RE, Rosenblatt HM, Small TN, Buckley RH. Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency. Blood. 1997 Mar 15; 89(6):1968-77.
Taylor N, Candotti F, Smith S, Oakes SA, Jahn T, Isakov J, Puck JM, O'Shea JJ, Weinberg K, Johnston JA. Interleukin-4 signaling in B lymphocytes from patients with X-linked severe combined immunodeficiency. J Biol Chem. 1997 Mar 14; 272(11):7314-9.
Buckley RH, Schiff RI, Schiff SE, Markert ML, Williams LW, Harville TO, Roberts JL, Puck JM. Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants. J Pediatr. 1997 Mar; 130(3):378-87.
Orlic D, Girard LJ, Lee D, Anderson SM, Puck JM, Bodine DM. Interleukin-7R alpha mRNA expression increases as stem cells differentiate into T and B lymphocyte progenitors. Exp Hematol. 1997 Mar; 25(3):217-22.
Fuss IJ, Strober W, Dale JK, Fritz S, Pearlstein GR, Puck JM, Lenardo MJ, Straus SE. Characteristic T helper 2 T cell cytokine abnormalities in autoimmune lymphoproliferative syndrome, a syndrome marked by defective apoptosis and humoral autoimmunity. J Immunol. 1997 Feb 15; 158(4):1912-8.
Sneller MC, Wang J, Dale JK, Strober W, Middelton LA, Choi Y, Fleisher TA, Lim MS, Jaffe ES, Puck JM, Lenardo MJ, Straus SE. Clincal, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis. Blood. 1997 Feb 15; 89(4):1341-8.
Puck JM, Sneller MC. ALPS: an autoimmune human lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis. Semin Immunol. 1997 Feb; 9(1):77-84.
O'Marcaigh AS, Puck JM, Pepper AE, De Santes K, Cowan MJ. Maternal mosaicism for a novel interleukin-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency in a Navajo kindred. J Clin Immunol. 1997 Jan; 17(1):29-33.
Kim PK, Dutra AS, Chandrasekharappa SC, Puck JM. Genomic structure and mapping of human FADD, an intracellular mediator of lymphocyte apoptosis. J Immunol. 1996 Dec 15; 157(12):5461-6.
Flake AW, Roncarolo MG, Puck JM, Almeida-Porada G, Evans MI, Johnson MP, Abella EM, Harrison DD, Zanjani ED. Treatment of X-linked severe combined immunodeficiency by in utero transplantation of paternal bone marrow. N Engl J Med. 1996 Dec 12; 335(24):1806-10.
Lai SY, Molden J, Liu KD, Puck JM, White MD, Goldsmith MA. Interleukin-4-specific signal transduction events are driven by homotypic interactions of the interleukin-4 receptor alpha subunit. EMBO J. 1996 Sep 02; 15(17):4506-14.
Hirschhorn R, Yang DR, Puck JM, Huie ML, Jiang CK, Kurlandsky LE. Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency. Nat Genet. 1996 Jul; 13(3):290-5.
Candotti F, Johnston JA, Puck JM, Sugamura K, O'Shea JJ, Blaese RM. Retroviral-mediated gene correction for X-linked severe combined immunodeficiency. Blood. 1996 Apr 15; 87(8):3097-102.
Dutra AS, Mignot E, Puck JM. Gene localization and syntenic mapping by FISH in the dog. Cytogenet Cell Genet. 1996; 74(1-2):113-7.
Tassara C, Pepper AE, Puck JM. Intronic point mutation in the IL2RG gene causing X-linked severe combined immunodeficiency. Hum Mol Genet. 1995 Sep; 4(9):1693-5.
Pepper AE, Buckley RH, Small TN, Puck JM. Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency. Am J Hum Genet. 1995 Sep; 57(3):564-71.
Fisher GH, Rosenberg FJ, Straus SE, Dale JK, Middleton LA, Lin AY, Strober W, Lenardo MJ, Puck JM. Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome. Cell. 1995 Jun 16; 81(6):935-46.
Puck JM, Pepper AE, Bédard PM, Laframboise R. Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency. J Clin Invest. 1995 Feb; 95(2):895-9.
Deschênes SM, Puck JM, Dutra AS, Somberg RL, Felsburg PJ, Henthorn PS. Comparative mapping of canine and human proximal Xq and genetic analysis of canine X-linked severe combined immunodeficiency. Genomics. 1994 Sep 01; 23(1):62-8.
Henthorn PS, Somberg RL, Fimiani VM, Puck JM, Patterson DF, Felsburg PJ. IL-2R gamma gene microdeletion demonstrates that canine X-linked severe combined immunodeficiency is a homologue of the human disease. Genomics. 1994 Sep 01; 23(1):69-74.
Puck JM. Molecular and genetic basis of X-linked immunodeficiency disorders. J Clin Immunol. 1994 Mar; 14(2):81-9.
Jänne PA, Dutra AS, Dracopoli NC, Charnas LR, Puck JM, Nussbaum RL. Localization of the 75-kDa inositol polyphosphate-5-phosphatase (INPP5B) to human chromosome band 1p34. Cytogenet Cell Genet. 1994; 66(3):164-6.
Puck JM. Molecular basis for three X-linked immune disorders. Hum Mol Genet. 1994; 3 Spec No:1457-61.
Buetow KH, Duggan D, Yang B, Ludwigsen S, Puck J, Porter J, Budarf M, Spielman R, Emanuel BS. A microsatellite-based multipoint index map of human chromosome 22. Genomics. 1993 Nov; 18(2):329-39.
Puck JM, Deschênes SM, Porter JC, Dutra AS, Brown CJ, Willard HF, Henthorn PS. The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1. Hum Mol Genet. 1993 Aug; 2(8):1099-104.
Puck JM, Conley ME, Bailey LC. Refinement of linkage of human severe combined immunodeficiency (SCIDX1) to polymorphic markers in Xq13. Am J Hum Genet. 1993 Jul; 53(1):176-84.
Himelstein BP, Puck J, August C, Pierson G, Bunin N. T-cell-depleted maternal bone marrow transplantation for siblings with X-linked severe combined immunodeficiency. J Pediatr. 1993 Feb; 122(2):289-91.
Puck JM. Prenatal diagnosis and genetic analysis of X-linked immunodeficiency disorders. Pediatr Res. 1993 Jan; 33(1 Suppl):S29-33; discussion S33-4.
Porter JC, Ram KT, Puck JM. Twelve new polymorphic microsatellites on human chromosome 22. Genomics. 1993 Jan; 15(1):57-61.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Conley ME, Puck JM. Definition of the gene loci in X-linked immunodeficiencies. Immunol Invest. 1988 Jul; 17(5):425-63.
Conley ME, Puck JM. Carrier detection in typical and atypical X-linked agammaglobulinemia. J Pediatr. 1988 May; 112(5):688-94.
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.
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.
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.
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.
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.
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.