Jennifer Puck, MD

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 215 peer reviewed research papers in addition to over 120 chapters and reviews; she is an editor and contributor to Primary Immunodeficiencies: A Molecular and Genetic Approach, 3rd 2014, and Clinical Immunology, Principles and Practice, 6th ed, 2021.
Noting the advantages in survival and outcomes 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 adopted in newborn screening panels throughout the USA 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's translational research also includes advances in therapies for individuals with SCID. She and Dr. Mort Cowan lead the first in human gene therapy clinical trial for SCID due to defects of the DNA repair gene Artemis (DCLRE1C).
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. She is PI of the NIH-funded Primary Immune Deficiency Treatment Consortium (PIDTC), part of the Rare Disease Clinical Research Network. 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, the Colonel Harlan Sanders Award for Lifetime Achievement in Genetics from the March of Dimes in 2014, and the Boyle Achievement Award for service to primary immunodeficiencies from the Immune Deficiency Foundation in 2017.
Education
M.D., 1975 - School of Medicine, Harvard University
Websites

  1. Okuyama K, Yamashita M, Koumoundourou A, Wiegreffe C, Ohno-Oishi M, Murphy SJH, Zhao X, Yoshida H, Ebihara T, Satoh-Takayama N, Kojo S, Ohno H, Morio T, Wu Y, Puck J, Xue HH, Britsch S, Taniuchi I. A mutant BCL11B-N440K protein interferes with BCL11A function during T lymphocyte and neuronal development. Nature immunology 2024. PMID: 39487351


  2. Miranda MA, Tsalatsanis A, Trotter JR, Arnold DE, Squire JD, Kidd S, Parikh S, Marsh RA, Griffith LM, Mallhi K, Chellapandian D, Lim SS, Grunebaum E, Sullivan KE, Newburger PE, Dinauer MC, Cowan MJ, Dvorak CC, Haddad E, Kohn DB, Notarangelo LD, Pai SY, Puck JM, Pulsipher MA, Torgerson TR, Malech HL, Kang EM, Morton FB, Leiding JW. High symptom burden in female X-linked chronic granulomatous disease carriers. Clinical immunology (Orlando, Fla.) 2024. PMID: 39278553


  3. McDonnell J, Cousins K, Younger MEM, Lane A, Abolhassani H, Abraham RS, Al-Tamemi S, Aldave-Becerra JC, Al-Faris EH, Alfaro-Murillo A, AlKhater SA, Alsaati N, Doss AMA, Anderson M, Angarola E, Ariue B, Arnold DE, Assa'ad AH, Aytekin C, Bank M, Bergerson JRE, Bleesing J, Boesing J, Bouso C, Brodszki N, Cabanillas D, Cady C, Callahan MA, Caorsi R, Carbone J, Carrabba M, Castagnoli R, Catanzaro JR, Chan S, Chandra S, Chapdelaine H, Chavoshzadeh Z, Chong HJ, Connors L, Consonni F, Correa-Jimenez O, Cunningham-Rundles C, D'Astous-Gauthier K, Delmonte OM, Demirdag YY, Deshpande DR, Diaz-Cabrera NM, Dimitriades VR, El-Owaidy R, ElGhazali G, Al-Hammadi S, Fabio G, Faure AS, Feng J, Fernandez JM, Fill L, Franco GR, Frenck RW, Fuleihan RL, Giardino G, Galant-Swafford J, Gambineri E, Garabedian EK, Geerlinks AV, Goudouris E, Grecco O, Pan-Hammarström Q, Khani HHK, Hammarström L, Hartog NL, Heimall J, Hernandez-Molina G, Horner CC, Hostoffer RW, Hristova N, Hsiao KC, Ivankovich-Escoto G, Jaber F, Jalil M, Jamee M, Jean T, Jeong S, Jhaveri D, Jordan MB, Joshi AY, Kalkat A, Kanarek HJ, Kellner ES, Khojah A, Khoury R, Kokron CM, Kumar A, Lecerf K, Lehman HK, Leiding JW, Lesmana H, Lim XR, Lopes JP, López AL, Tarquini L, Lundgren IS, Magnusson J, Marinho AKBB, Marseglia GL, Martone GM, Mechtler AG, Mendonca L, Milner JD, Mustillo PJ, Naderi AG, Naviglio S, Nell J, Niebur HB, Notarangelo L, Oleastro M, Ortega-López MC, Patel NR, Petrovic G, Pignata C, Porras O, Prince BT, Puck JM, Qamar N, Rabusin M, Raje N, Regairaz L, Risma KA, Ristagno EH, Routes J, Roxo-Junior P, Salemi N, Scalchunes C, Schuval SJ, Seneviratne SL, Shankar A, Sherkat R, Shin JJ, Siddiqi A, Signa S, Sobh A, Lima FMS, Stenehjem KK, Tam JS, Tang M, Barros MT, Verbsky J, Vergadi E, Voelker DH, Volpi S, Wall LA, Wang C, Williams KW, Wu EY, Wu SS, Zhou JJ, Cook A, Sullivan KE, Marsh R. COVID-19 Vaccination in Patients with Inborn Errors of Immunity Reduces Hospitalization and Critical Care Needs Related to COVID-19: a USIDNET Report. Journal of clinical immunology 2024. PMID: 38578389


  4. Abraham RS, Basu A, Heimall JR, Dunn E, Yip A, Kapadia M, Kapoor N, Satter LF, Buckley R, O'Reilly R, Cuvelier GDE, Chandra S, Bednarski J, Chaudhury S, Moore TB, Haines H, Dávila Saldaña BJ, Chellapandian D, Rayes A, Chen K, Caywood E, Chandrakasan S, Lugt MTV, Ebens C, Teira P, Shereck E, Miller H, Aquino V, Eissa H, Yu LC, Gillio A, Madden L, Knutsen A, Shah AJ, DeSantes K, Barnum J, Broglie L, Joshi AY, Kleiner G, Dara J, Prockop S, Martinez C, Mousallem T, Oved J, Burroughs L, Marsh R, Torgerson TR, Leiding JW, Pai SY, Kohn DB, Pulsipher MA, Griffith LM, Notarangelo LD, Cowan MJ, Puck J, Dvorak CC, Haddad E. Relevance of lymphocyte proliferation to PHA in severe combined immunodeficiency (SCID) and T cell lymphopenia. Clinical immunology (Orlando, Fla.) 2024. PMID: 38367737


  5. Grunebaum E, Arnold DE, Logan B, Parikh S, Marsh RA, Griffith LM, Mallhi K, Chellapandian D, Lim SS, Deal CL, Kapoor N, Murguía-Favela L, Falcone EL, Prasad VK, Touzot F, Bleesing JJ, Chandrakasan S, Heimall JR, Bednarski JJ, Broglie LA, Chong HJ, Kapadia M, Prockop S, Dávila Saldaña BJ, Schaefer E, Bauchat AL, Teira P, Chandra S, Parta M, Cowan MJ, Dvorak CC, Haddad E, Kohn DB, Notarangelo LD, Pai SY, Puck JM, Pulsipher MA, Torgerson T, Malech HL, Kang EM, Leiding JW. Allogeneic hematopoietic cell transplantation is effective for p47phox chronic granulomatous disease: a PIDTC study. The Journal of allergy and clinical immunology 2024. PMID: 38290608


  6. Leiding JW, Arnold DE, Parikh SH, Logan BR, Marsh RA, Griffith LM, Wu R, Kidd S, Mallhi KK, Chellapandian D, Si Lim S, Grunebaum E, Falcone EL, Murguia-Favela L, Grossman D, Prasad VK, Heimall JR, Touzot F, Burroughs L, Bleesing J, Kapoor N, Dara J, Williams O, Kapadia M, Oshrine BR, Bednarski JJ, Rayes A, Chong H, Cuvelier GDE, Forbes Satter LR, Martinez C, Vander Lugt MT, Yu LC, Chandrakasan S, Joshi A, Prockop SE, Dávila Saldaña BJ, Aquino V, Broglie L, Ebens CL, Madden LM, DeSantes K, Milner J, Rangarajan HG, Shah A, Gilio AP, Knutsen AP, Miller HK, Moore TB, Graham P, Bauchat A, Bunin NJ, Teira P, Petrovic A, Chandra S, Abdel-Azim H, Dorsey M, Birbrayer O, Cowan MJ, Dvorak CC, Haddad E, Kohn DB, Notarangelo LD, Pai SY, Puck JM, Pulsipher MA, Torgerson TR, Malech HL, Kang EM. Genotype, Oxidase Status, and Preceding Infection or Autoinflammation Do Not Affect Allogeneic HCT Outcomes for CGD. Blood 2023. PMID: 37562003


  7. Yan KK, Condori J, Ma Z, Metais JY, Ju B, Ding L, Dhungana Y, Palmer LE, Langfitt DM, Ferrara F, Throm R, Shi H, Risch I, Bhatara S, Shaner B, Lockey TD, Talleur AC, Easton J, Meagher MM, Puck JM, Cowan MJ, Zhou S, Mamcarz E, Gottschalk S, Yu J. Integrome signatures of lentiviral gene therapy for SCID-X1 patients. Science advances 2023. PMID: 37801507


  8. Eissa H, Thakar M, Shah AJ, Logan B, Griffith LM, Dong H, Parrott RE, O'Reilly R, Dara J, Kapoor N, Satter LF, Chandra S, Kapadia M, Chandrakasan S, Knutsen A, Jyonouchi SC, Molinari L, Rayes A, Ebens CL, Teira P, Dávila Saldaña BJ, Burroughs LM, Chaudhury S, Chellapandian D, Gillio AP, Goldman F, Malech HL, DeSantes K, Cuvelier GDE, Rozmus J, Quinones R, Yu LC, Broglie L, Aquino V, Shereck E, Moore TB, Lugt MV, Mousallem TI, Oved JH, Dorsey M, Azim HA, Martinez C, Bleesing J, Prockop S, Kohn DB, Bednarski JJ, Leiding J, Marsh RA, Torgerson T, Notarangelo LD, Pai SY, Pulsipher MA, Puck JM, Dvorak CC, Haddad E, Buckley RH, Cowan MJ, Heimall J. Post-Transplant Late Complications Increase Over Time for Patients with SCID: A Primary Immune Deficiency Treatment Consortium (PIDTC) Landmark Study. The Journal of allergy and clinical immunology 2023. PMID: 37793572


  9. Chandrasekaran P, Han Y, Zerbe CS, Heller T, DeRavin SS, Kreuzberg SA, Marciano BE, Siu Y, Jones DR, Abraham RS, Stephens MC, Tsou AM, Snapper S, Conlan S, Subramanian P, Quinones M, Grou C, Calderon V, Deming C, Leiding JW, Arnold DE, Logan BR, Griffith LM, Petrovic A, Mousallem TI, Kapoor N, Heimall JR, Barnum JL, Kapadia M, Wright N, Rayes A, Chandra S, Broglie LA, Chellapandian D, Deal CL, Grunebaum E, Lim SS, Mallhi K, Marsh RA, Murguia-Favela L, Parikh S, Touzot F, Cowan MJ, Dvorak CC, Haddad E, Kohn DB, Notarangelo L, Pai SY, Puck JM, Pulsipher MA, Torgerson TR, Kang EM, Malech HL, Segre JA, Bryant CE, Holland SM, Falcone EL. Intestinal microbiome and metabolome signatures in patients with chronic granulomatous disease. The Journal of allergy and clinical immunology 2023. PMID: 37659505


  10. Thakar MS, Logan BR, Puck JM, Dunn EA, Buckley RH, Cowan MJ, O'Reilly RJ, Kapoor N, Satter LF, Pai SY, Heimall J, Chandra S, Ebens CL, Chellapandian D, Williams O, Burroughs LM, Saldana BD, Rayes A, Madden LM, Chandrakasan S, Bednarski JJ, DeSantes KB, Cuvelier GDE, Teira P, Gillio AP, Eissa H, Knutsen AP, Goldman FD, Aquino VM, Shereck EB, Moore TB, Caywood EH, Lugt MTV, Rozmus J, Broglie L, Yu LC, Shah AJ, Andolina JR, Liu X, Parrott RE, Dara J, Prockop S, Martinez CA, Kapadia M, Jyonouchi SC, Sullivan KE, Bleesing JJ, Chaudhury S, Petrovic A, Keller MD, Quigg TC, Parikh S, Shenoy S, Seroogy C, Rubin T, Decaluwe H, Routes JM, Torgerson TR, Leiding JW, Pulsipher MA, Kohn DB, Griffith LM, Haddad E, Dvorak CC, Notarangelo LD. Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium. Lancet (London, England) 2023. PMID: 37352885


  11. Schuetz C, Gerke J, Ege MJ, Walter JE, Kusters M, Worth AJJ, Kanakry JA, Dimitrova D, Wolska-Kusnierz B, Chen K, Unal E, Karakukcu M, Pashchenko O, Leiding JW, Kawai T, Amrolia PJ, Berghuis D, Buechner J, Buchbinder D, Cowan MJ, Gennery AR, G?ng?r T, Heimall JR, Miano M, Meyts I, Morris EC, Rivi?re JG, Sharapova SO, Shaw PJ, Slatter MA, Honig M, Veys P, Fischer A, Cavazzana M, Moshous D, Schulz AS, Albert MH, Puck JM, Lankester AC, Notarangelo LD, Neven B. Hypomorphic RAG deficiency: impact of disease burden on survival and thymic recovery argues for early diagnosis and HSCT. Blood 2022. PMID: 36279417


  12. Cowan MJ, Yu J, Facchino J, Fraser-Browne C, Sanford U, Kawahara M, Dara J, Long-Boyle J, Oh J, Chan W, Chag S, Broderick L, Chellapandian D, Decaluwe H, Golski C, Hu D, Kuo CY, Miller HK, Petrovic A, Currier R, Hilton JF, Punwani D, Dvorak CC, Malech HL, McIvor RS, Puck JM. Lentiviral Gene Therapy for Artemis-Deficient SCID. The New England journal of medicine 2022. PMID: 36546626


  13. Forlanini F, Chan A, Dara J, Dvorak CC, Cowan MJ, Puck JM, Dorsey MJ. Impact of Genetic Diagnosis on the Outcome of Hematopoietic Stem Cell Transplant in Primary Immunodeficiency Disorders. Journal of clinical immunology 2022. PMID: 36495401


  14. Dvorak CC, Haddad E, Heimall J, Dunn E, Buckley RH, Kohn DB, Cowan MJ, Pai SY, Griffith LM, Cuvelier GDE, Eissa H, Shah AJ, O'Reilly RJ, Pulsipher MA, Wright NAM, Abraham RS, Satter LF, Notarangelo LD, Puck JM. The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions. The Journal of allergy and clinical immunology 2022. PMID: 36456361


  15. Dvorak CC, Haddad E, Heimall J, Dunn E, Cowan MJ, Pai SY, Kapoor N, Satter LF, Buckley RH, O'Reilly RJ, Chandra S, Bednarski JJ, Williams O, Rayes A, Moore TB, Ebens CL, Davila Saldana BJ, Petrovic A, Chellapandian D, Cuvelier GDE, Vander Lugt MT, Caywood EH, Chandrakasan S, Eissa H, Goldman FD, Shereck E, Aquino VM, Desantes KB, Madden LM, Miller HK, Yu L, Broglie L, Gillio A, Shah AJ, Knutsen AP, Andolina JP, Joshi AY, Szabolcs P, Kapadia M, Martinez CA, Parrot RE, Sullivan KE, Prockop SE, Abraham RS, Thakar MS, Leiding JW, Kohn DB, Pulsipher MA, Griffith LM, Notarangelo LD, Puck JM. The diagnosis of severe combined immunodeficiency: Implementation of the PIDTC 2022 Definitions. The Journal of allergy and clinical immunology 2022. PMID: 36456360


  16. Bousfiha A, Moundir A, Tangye SG, Picard C, Jeddane L, Al-Herz W, Rundles CC, Franco JL, Holland SM, Klein C, Morio T, Oksenhendler E, Puel A, Puck J, Sepp?nen MRJ, Somech R, Su HC, Sullivan KE, Torgerson TR, Meyts I. The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity. Journal of clinical immunology 2022. PMID: 36198931


  17. Puck JM. A Spot of Good News: Israeli Experience With SCID Newborn Screening. The journal of allergy and clinical immunology. In practice 2022. PMID: 36216463


  18. Tran P, Gober L, Garabedian EK, Fuleihan RL, Puck JM, Sullivan KE, Spergel JM, Ruffner MA. Eosinophilic gastrointestinal disorders in patients with inborn errors of immunity: Data from the USIDNET registry. Frontiers in immunology 2022. PMID: 36211419


  19. Cuvelier GDE, Logan BR, Prockop S, Buckley RH, Kuo CY, Griffith LM, Liu X, Yip A, Hershfield M, Ayoub P, Moore TB, Dorsey M, O'Reilly RJ, Kapoor N, Pai SY, Kapadia M, Ebens CL, Forbes Satter LR, Burroughs L, Petrovic A, Chellapandian D, Heimall J, Shyr D, Rayes A, Bednarski JJ, Chandra S, Chandrakasan S, Gilio AP, Madden LM, Quigg TC, Caywood EH, Dávila Saldaña BJ, DeSantes K, Eissa H, Goldman FD, Rozmus J, Shah A, Vander Lugt MT, Thakar MS, Parrott RE, Martinez CA, Leiding JW, Torgerson TR, Pulsipher MA, Notarangelo LD, Cowan MJ, Dvorak CC, Haddad E, Puck JM, Kohn DB. Outcomes Following Treatment for Adenosine Deaminase Deficient Severe Combined Immunodeficiency: A Report from the PIDTC. 2022. PMID: 35671392


  20. Labrosse R, Boufaied I, Bourdin B, Gona S, Randolph HE, Logan BR, Bourbonnais S, Berthe C, Chan W, Buckley RH, Parrott RE, Cuvelier GDE, Kapoor N, Chandra S, D?vila Salda?a BJ, Eissa H, Goldman FD, Heimall J, O'Reilly R, Chaudhury S, Kolb EA, Shenoy S, Griffith LM, Pulsipher M, Kohn DB, Notarangelo LD, Pai SY, Cowan MJ, Dvorak CC, Haddad ?, Puck JM, Barreiro LB, Decaluwe H. Aberrant T-cell exhaustion in severe combined immunodeficiency survivors with poor T-cell reconstitution after transplantation. The Journal of allergy and clinical immunology 2022. PMID: 35987350


  21. Sertori R, Lin JX, Martinez E, Rana S, Sharo A, Kazemian M, Sunderam U, Andrake M, Shinton S, Truong B, Dunbrack RM, Liu C, Srinivasan R, Brenner SE, Seroogy CM, Puck JM, Leonard WJ, Wiest DL. Investigation of the causal etiology in a patient with T-B+NK+ immunodeficiency. Frontiers in immunology 2022. PMID: 35967429


  22. De Ravin SS, Liu S, Sweeney CL, Brault J, Whiting-Theobald N, Ma M, Liu T, Choi U, Lee J, O'Brien SA, Quackenbush P, Estwick T, Karra A, Docking E, Kwatemaa N, Guo S, Su L, Sun Z, Zhou S, Puck J, Cowan MJ, Notarangelo LD, Kang E, Malech HL, Wu X. Lentivector cryptic splicing mediates increase in CD34+ clones expressing truncated HMGA2 in human X-linked severe combined immunodeficiency. Nature communications 2022. PMID: 35764638


  23. Tangye SG, Al-Herz W, Bousfiha A, Cunningham-Rundles C, Franco JL, Holland SM, Klein C, Morio T, Oksenhendler E, Picard C, Puel A, Puck J, Seppänen MRJ, Somech R, Su HC, Sullivan KE, Torgerson TR, Meyts I. Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee. Journal of clinical immunology 2022. PMID: 35748970


  24. Arnold DE, Chellapandian D, Parikh S, Mallhi K, Marsh RA, Heimall JR, Grossman D, Chitty-Lopez M, Murguia-Favela L, Gennery AR, Boulad F, Arbuckle E, Cowan MJ, Dvorak CC, Griffith LM, Haddad E, Kohn DB, Notarangelo LD, Pai SY, Puck JM, Pulsipher MA, Torgerson T, Kang EM, Malech HL, Leiding JW. Granulocyte Transfusions in Patients with Chronic Granulomatous Disease Undergoing Hematopoietic Cell Transplantation or Gene Therapy. 2022. PMID: 35445907


  25. Smith KL, Dai D, Modi BP, Sara R, Garabedian E, Marsh RA, Puck J, Secord E, Sullivan KE, Turvey SE, Biggs CM, USIDNET Consortium. Inborn Errors of Immunity Associated With Type 2 Inflammation in the USIDNET Registry. 2022. PMID: 35273610


  26. Puck JM, Gennery AR. Establishing Newborn Screening for SCID in the USA; Experience in California. 2021. PMID: 34842619


  27. Blom M, Zetterström RH, Stray-Pedersen A, Gilmour K, Gennery AR, Puck JM, van der Burg M. Recommendations for uniform definitions used in newborn screening for severe combined immunodeficiency. The Journal of allergy and clinical immunology 2021. PMID: 34537207


  28. Delmonte OM, Castagnoli R, Yu J, Dvorak CC, Cowan MJ, Dávila Saldaña BJ, De Ravin SS, Mamcarz E, Chang CK, Daley SR, Griffith LM, Notarangelo LD, Puck JM. Poor T-cell receptor β repertoire diversity early posttransplant for severe combined immunodeficiency predicts failure of immune reconstitution. The Journal of allergy and clinical immunology 2021. PMID: 34384841


  29. Smith H, Scalchunes C, Cowan MJ, Puck J, Heimall J. Expectations and experience: Parent and patient perspectives regarding treatment for Severe Combined Immunodeficiency (SCID). Clinical immunology (Orlando, Fla.) 2021. PMID: 34144198


  30. Le Coz C, Nguyen DN, Su C, Nolan BE, Albrecht AV, Xhani S, Sun D, Demaree B, Pillarisetti P, Khanna C, Wright F, Chen PA, Yoon S, Stiegler AL, Maurer K, Garifallou JP, Rymaszewski A, Kroft SH, Olson TS, Seif AE, Wertheim G, Grant SFA, Vo LT, Puck JM, Sullivan KE, Routes JM, Zakharova V, Shcherbina A, Mukhina A, Rudy NL, Hurst ACE, Atkinson TP, Boggon TJ, Hakonarson H, Abate AR, Hajjar J, Nicholas SK, Lupski JR, Verbsky J, Chinn IK, Gonzalez MV, Wells AD, Marson A, Poon GMK, Romberg N. Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients. The Journal of experimental medicine 2021. PMID: 33951726


  31. Tangye SG, Al-Herz W, Bousfiha A, Cunningham-Rundles C, Franco JL, Holland SM, Klein C, Morio T, Oksenhendler E, Picard C, Puel A, Puck J, Seppänen MRJ, Somech R, Su HC, Sullivan KE, Torgerson TR, Meyts I. The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee. Journal of clinical immunology 2021. PMID: 33598806


  32. Dorsey M, Wright NAM, Chaimowitz NS, Dávila Saldaña BJ, Miller H, Keller MD, Thakar MS, Shah AJ, Abu-Arja R, Andolina J, Aquino V, Barnum JL, Bednarski JJ, Bhatia M, Bonilla FA, Butte MJ, Bunin NJ, Burroughs LM, Chandra S, Chaudhury S, Chen K, Chong H, Cuvelier G, Dalal J, DeFelice ML, DeSantes KB, Forbes LR, Gillio A, Goldman F, Joshi AY, Kapoor N, Knutsen AP, Kobrynski L, Lieberman JA, Leiding JW, Oshrine B, Patel KP, Prockop S, Quigg TC, Quinones R, Schultz KR, Seroogy C, Shyr D, Siegel S, Smith AR, Torgerson TR, Vander Lugt MT, Yu LC, Cowan MJ, Buckley RH, Dvorak CC, Griffith LM, Haddad E, Kohn DB, Logan B, Notarangelo LD, Pai SY, Puck J, Pulsipher MA, Heimall J. Correction to: Infections in Infants with SCID: Isolation, Infection Screening and Prophylaxis in PIDTC Centers. Journal of clinical immunology 2021. PMID: 33274413


  33. Currier R, Puck JM. SCID newborn screening: What we've learned. The Journal of allergy and clinical immunology 2021. PMID: 33551023


  34. Buchbinder D, Walter JE, Butte MJ, Chan WY, Chitty Lopez M, Dimitriades VR, Dorsey MJ, Nugent DJ, Puck JM, Singh J, Collins CA. When Screening for Severe Combined Immunodeficiency (SCID) with T Cell Receptor Excision Circles Is Not SCID: a Case-Based Review. Journal of clinical immunology 2021. PMID: 33411155


  35. Forlanini F, Dara J, Dvorak CC, Cowan MJ, Puck JM, Dorsey MJ. Unknown cytomegalovirus serostatus in primary immunodeficiency disorders: A new category of transplant recipients. Transplant infectious disease : an official journal of the Transplantation Society 2020. PMID: 33169931


  36. Marsh RA, Leiding JW, Logan BR, Griffith LM, Arnold DE, Haddad E, Falcone EL, Yin Z, Patel K, Arbuckle E, Bleesing JJ, Sullivan KE, Heimall J, Burroughs LM, Skoda-Smith S, Chandrakasan S, Yu LC, Oshrine BR, Cuvelier GDE, Thakar MS, Chen K, Teira P, Shenoy S, Phelan R, Forbes LR, Martinez C, Chellapandian D, Dávila Saldaña BJ, Shah AJ, Weinacht KG, Joshi A, Boulad F, Quigg TC, Dvorak CC, Grossman D, Torgerson T, Graham P, Prasad V, Knutsen A, Chong H, Miller H, de la Morena MT, DeSantes K, Cowan MJ, Notarangelo LD, Kohn DB, Stenger E, Pai SY, Routes JM, Puck JM, Kapoor N, Pulsipher MA, Malech HL, Parikh S, Kang EM, submitted on behalf of the Primary Immune Deficiency Treatment Consortium. Correction: Chronic Granulomatous Disease-Associated IBD Resolves and Does Not Adversely Impact Survival Following Allogeneic HCT. Journal of clinical immunology 2020. PMID: 32860171


  37. Dorsey MJ, Wright NAM, Chaimowitz NS, Dávila Saldaña BJ, Miller H, Keller MD, Thakar MS, Shah AJ, Abu-Arja R, Andolina J, Aquino V, Barnum JL, Bednarski JJ, Bhatia M, Bonilla FA, Butte MJ, Bunin NJ, Chandra S, Chaudhury S, Chen K, Chong H, Cuvelier GDE, Dalal J, DeFelice ML, DeSantes KB, Forbes LR, Gillio A, Goldman F, Joshi AY, Kapoor N, Knutsen AP, Kobrynski L, Lieberman JA, Leiding JW, Oshrine B, Patel KP, Prockop S, Quigg TC, Quinones R, Schultz KR, Seroogy C, Shyr D, Siegel S, Smith AR, Torgerson TR, Vander Lugt MT, Yu LC, Cowan MJ, Buckley RH, Dvorak CC, Griffith LM, Haddad E, Kohn DB, Logan B, Notarangelo LD, Pai SY, Puck J, Pulsipher MA, Heimall J. Infections in Infants with SCID: Isolation, Infection Screening, and Prophylaxis in PIDTC Centers. Journal of clinical immunology 2020. PMID: 33006109


  38. Maron G, Kaste S, Bahrami A, Neel M, Malech HL, Puck JM, Cowan MJ, Gottschalk S, Mamcarz E. Successful SCID gene therapy in infant with disseminated BCG. The journal of allergy and clinical immunology. In practice 2020. PMID: 32949809


  39. Kuo CY, Garabedian E, Puck J, Cowan MJ, Sullivan KE, Buckley RH, Cunningham-Rundles C, Marsh R, Candotti F, Kohn DB. Adenosine Deaminase (ADA)-Deficient Severe Combined Immune Deficiency (SCID) in the US Immunodeficiency Network (USIDNet) Registry. Journal of clinical immunology 2020. PMID: 32880085


  40. Adhikari AN, Gallagher RC, Wang Y, Currier RJ, Amatuni G, Bassaganyas L, Chen F, Kundu K, Kvale M, Mooney SD, Nussbaum RL, Randi SS, Sanford J, Shieh JT, Srinivasan R, Sunderam U, Tang H, Vaka D, Zou Y, Koenig BA, Kwok PY, Risch N, Puck JM, Brenner SE. The role of exome sequencing in newborn screening for inborn errors of metabolism. Nature medicine 2020. PMID: 32778825


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  124. Yong PF, Freeman AF, Engelhardt KR, Holland S, Puck JM, Grimbacher B. An update on the hyper-IgE syndromes. Arthritis research & therapy 2012. PMID: 23210525


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  138. Dasouki M, Okonkwo KC, Ray A, Folmsbeel CK, Gozales D, Keles S, Puck JM, Chatila T. Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: implications for pathogenesis and potential detection by newborn screening. Clinical immunology (Orlando, Fla.) 2011. PMID: 21763205


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  143. Griffith LM, Cowan MJ, Notarangelo LD, Puck JM, Buckley RH, Candotti F, Conley ME, Fleisher TA, Gaspar HB, Kohn DB, Ochs HD, O'Reilly RJ, Rizzo JD, Roifman CM, Small TN, Shearer WT, Workshop Participants. Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management. The Journal of allergy and clinical immunology 2009. PMID: 20004776


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  146. 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). Pediatric blood & cancer 2009. PMID: 19214977


  147. 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, Immune Tolerance Network ITN007AI Study Group. 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. Clinical immunology (Orlando, Fla.) 2009. PMID: 19443276


  148. 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. Clinical immunology (Orlando, Fla.) 2008. PMID: 19097825


  149. 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. The Journal of allergy and clinical immunology 2008. PMID: 18992926


  150. 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. Nature immunology 2008. PMID: 18836449


  151. Lebet T, Chiles R, Hsu AP, Mansfield ES, Warrington JA, Puck JM. Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray. Genetics in medicine : official journal of the American College of Medical Genetics 2008. PMID: 18641513


  152. 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. The Journal of experimental medicine 2008. PMID: 18625743


  153. Cowan MJ, Neven B, Cavazanna-Calvo M, Fischer A, Puck J. Hematopoietic stem cell transplantation for severe combined immunodeficiency diseases. Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2008. PMID: 18162224


  154. Domingo DL, Freeman AF, Davis J, Puck JM, Tianxia W, Holland SM, Hart TC. Novel intraoral phenotypes in hyperimmunoglobulin-E syndrome. Oral diseases 2008. PMID: 18173452


  155. Puck JM. Population-based newborn screening for severe combined immunodeficiency. Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2008. PMID: 19418625


  156. Puck JM. Neonatal screening for severe combined immune deficiency. Current opinion in allergy and clinical immunology 2007. PMID: 17989529


  157. 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. American journal of hematology 2007. PMID: 17674358


  158. 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. PMID: 18000661


  159. Puck JM, SCID Newborn Screening Working Group. Population-based newborn screening for severe combined immunodeficiency: steps toward implementation. The Journal of allergy and clinical immunology 2007. PMID: 17931561


  160. Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarström L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J, International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Comm. Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. The Journal of allergy and clinical immunology 2007. PMID: 17952897


  161. Shearer WT, Malech HL, Puck JM. Primary immunodeficiency: meeting the challenges. The Journal of allergy and clinical immunology 2007. PMID: 17931558


  162. 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. The New England journal of medicine 2007. PMID: 17881745


  163. 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. Clinical immunology (Orlando, Fla.) 2007. PMID: 17827065


  164. 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 medical genetics 2007. PMID: 17605793


  165. 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. Proceedings of the National Academy of Sciences of the United States of America 2007. PMID: 17517660


  166. 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. PMID: 17521577


  167. 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. PMID: 17438082


  168. 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. PMID: 17369490


  169. Freeman AF, Kleiner DE, Nadiminti H, Davis J, Quezado M, Anderson V, Puck JM, Holland SM. Causes of death in hyper-IgE syndrome. The Journal of allergy and clinical immunology 2007. PMID: 17335882


  170. Puck JM. Severe combined immunodeficiency: new advances in diagnosis and treatment. Immunologic research 2007. PMID: 17917011


  171. Puck JM, Candotti F. Lessons from the Wiskott-Aldrich syndrome. The New England journal of medicine 2006. PMID: 17065636


  172. 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. PMID: 16940164


  173. Candotti F, Roifman C, Puck JM. Immunodeficiencies: injecting some safety into SCID gene therapy? Gene therapy 2006. PMID: 18360945


  174. Kellermayer R, Hsu AP, Stankovics J, Balogh P, Hadzsiev K, Vojcek Á, 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. Journal of human genetics 2006. PMID: 16601912


  175. Puck JM, Malech HL. Gene therapy for immune disorders: good news tempered by bad news. The Journal of allergy and clinical immunology 2006. PMID: 16630946


  176. Notarangelo L, Casanova JL, Conley ME, Chapel H, Fischer A, Puck J, Roifman C, Seger R, Geha RS, International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Comm. Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest, 2005. The Journal of allergy and clinical immunology 2006. PMID: 16680902


  177. 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). American journal of hematology 2006. PMID: 16432855


  178. 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. Human genetics 2006. PMID: 16446975


  179. Niemela JE, Hsu AP, Fleisher TA, Puck JM. Single nucleotide polymorphisms in the apoptosis receptor gene TNFRSF6. Molecular and cellular probes 2005. PMID: 16271851


  180. 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). Clinical immunology (Orlando, Fla.) 2005. PMID: 16257267


  181. 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. The American journal of surgical pathology 2005. PMID: 15958855


  182. 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. Nature genetics 2005. PMID: 15924140


  183. 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. British journal of haematology 2005. PMID: 15877736


  184. Chan K, Puck JM. Development of population-based newborn screening for severe combined immunodeficiency. The Journal of allergy and clinical immunology 2005. PMID: 15696101


  185. Grimbacher B, Holland SM, Puck JM. Hyper-IgE syndromes. Immunological reviews 2005. PMID: 15661034


  186. Chinen J, Puck JM. Perspectives of gene therapy for primary immunodeficiencies. Current opinion in allergy and clinical immunology 2004. PMID: 15640693


  187. Legembre P, Barnhart BC, Zheng L, Vijayan S, Straus SE, Puck J, Dale JK, Lenardo M, Peter ME. Induction of apoptosis and activation of NF-kappaB by CD95 require different signalling thresholds. EMBO reports 2004. PMID: 15514680


  188. Puck JM, Straus SE. Somatic mutations--not just for cancer anymore. The New England journal of medicine 2004. PMID: 15459299


  189. Eberting CL, Davis J, Puck JM, Holland SM, Turner ML. Dermatitis and the newborn rash of hyper-IgE syndrome. Archives of dermatology 2004. PMID: 15381553


  190. Notarangelo L, Casanova JL, Fischer A, Puck J, Rosen F, Seger R, Geha R, International Union of Immunological Societies Primary Immunodeficiency diseases classification comm. Primary immunodeficiency diseases: an update. The Journal of allergy and clinical immunology 2004. PMID: 15356576


  191. Tock CL, Holland SM, Puck JM, Turner ML. A man with distinctive facial features and recurrent pyoderma, pneumonia, and skeletal fractures. Journal of the American Academy of Dermatology 2004. PMID: 15034515


  192. Chinen J, Puck JM. Successes and risks of gene therapy in primary immunodeficiencies. The Journal of allergy and clinical immunology 2004. PMID: 15100660


  193. 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. American journal of medical genetics. Part A 2004. PMID: 14981714


  194. Matsuzaki H, Loi H, Dong S, Tsai YY, Fang J, Law J, Di X, Liu WM, Yang G, Liu G, Huang J, Kennedy GC, Ryder TB, Marcus GA, Walsh PS, Shriver MD, Puck JM, Jones KW, Mei R. Parallel genotyping of over 10,000 SNPs using a one-primer assay on a high-density oligonucleotide array. Genome research 2004. PMID: 14993208


  195. Hale LP, Buckley RH, Puck JM, Patel DD. Abnormal development of thymic dendritic and epithelial cells in human X-linked severe combined immunodeficiency. Clinical immunology (Orlando, Fla.) 2004. PMID: 14962797


  196. Renner ED, Puck JM, Holland SM, Schmitt M, Weiss M, Frosch M, Bergmann M, Davis J, Belohradsky BH, Grimbacher B. Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity. The Journal of pediatrics 2004. PMID: 14722525


  197. Puck JM, Zhu S. Immune disorders caused by defects in the caspase cascade. Current allergy and asthma reports 2003. PMID: 12906772


  198. Cooper MD, Lanier LL, Conley ME, Puck JM. Immunodeficiency disorders. Hematology. American Society of Hematology. Education Program 2003. PMID: 14633788


  199. Chun HJ, Zheng L, Ahmad M, Wang J, Speirs CK, Siegel RM, Dale JK, Puck J, Davis J, Hall CG, Skoda-Smith S, Atkinson TP, Straus SE, Lenardo MJ. Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency. Nature 2002. PMID: 12353035


  200. 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. Clinical immunology (Orlando, Fla.) 2002. PMID: 12139945


  201. 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. PMID: 12070011


  202. 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. European journal of immunology 2002. PMID: 11857342


  203. 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. Proceedings of the National Academy of Sciences of the United States of America 2002. PMID: 11867757


  204. 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. PMID: 11806989


  205. 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. PMID: 11588044


  206. 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. Clinical immunology (Orlando, Fla.) 2001. PMID: 11513545


  207. 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. American journal of human genetics 2001. PMID: 11517424


  208. 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. PMID: 11418480


  209. 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. PMID: 11342444


  210. 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. Molecular therapy : the journal of the American Society of Gene Therapy 2001. PMID: 11319919


  211. 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. Clinical reviews in allergy & immunology 2001. PMID: 11269222


  212. Fanos JH, Puck JM. Family pictures: growing up with a brother with X-linked severe combined immunodeficiency. American journal of medical genetics 2001. PMID: 11426456


  213. 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. Advances in genetics 2001. PMID: 11037300


  214. Fanos JH, Davis J, Puck JM. Sib understanding of genetics and attitudes toward carrier testing for X-linked severe combined immunodeficiency. American journal of medical genetics 2001. PMID: 11426455


  215. Puck JM. A disease gene for autosomal hyper-IgM syndrome: more genes associated with more immunodeficiencies. Clinical immunology (Orlando, Fla.) 2000. PMID: 11112357


  216. Davis J, Krasnewich D, Puck JM. Genetic testing and screening in pediatric populations. The Nursing clinics of North America 2000. PMID: 10957679


  217. 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. Clinical immunology (Orlando, Fla.) 2000. PMID: 10794430


  218. 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 surgery, oral medicine, oral pathology, oral radiology, and endodontics 2000. PMID: 10673653


  219. 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. Molecular therapy : the journal of the American Society of Gene Therapy 2000. PMID: 10933924


  220. Jackson CE, Puck JM. Autoimmune lymphoproliferative syndrome, a disorder of apoptosis. Current opinion in pediatrics 1999. PMID: 10590910


  221. 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. Clinical immunology (Orlando, Fla.) 1999. PMID: 10497009


  222. 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. American journal of human genetics 1999. PMID: 10441580


  223. 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. PMID: 10412980


  224. 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. Genetics in medicine : official journal of the American College of Medical Genetics 1999. PMID: 11256675


  225. 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. PMID: 10405750


  226. Tangsinmankong N, Day NK, Nelson RP, Puck J, Good RA. Severe combined immunodeficiency in an infant with multiple congenital abnormalities. The Journal of allergy and clinical immunology 1999. PMID: 10359914


  227. Whitwam T, Haskins ME, Henthorn PS, Bodine DM, Puck JM. Canine lymphocyte expression of retrovirally transferred human common gamma chain. Annals of the New York Academy of Sciences 1999. PMID: 10372141


  228. 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. Proceedings of the National Academy of Sciences of the United States of America 1999. PMID: 10200300


  229. Straus SE, Sneller M, Lenardo MJ, Puck JM, Strober W. An inherited disorder of lymphocyte apoptosis: the autoimmune lymphoproliferative syndrome. Annals of internal medicine 1999. PMID: 10189330


  230. 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. American journal of human genetics 1999. PMID: 10090885


  231. 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. The New England journal of medicine 1999. PMID: 10053178


  232. 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. The American journal of pathology 1998. PMID: 9811346


  233. 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. The Journal of pediatrics 1998. PMID: 9821419


  234. 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. PMID: 9716584


  235. Puck JM. The timing of twinning: more insights from X inactivation. American journal of human genetics 1998. PMID: 9683619


  236. Kleiman SE, Pastan I, Puck JM, Gottesman MM. Characterization of an MDR1 retroviral bicistronic vector for correction of X-linked severe combined immunodeficiency. Gene therapy 1998. PMID: 9797872


  237. Grimbacher B, Holland SM, Puck JM. The interleukin-4 receptor variant Q576R in hyper-IgE syndrome. The New England journal of medicine 1998. PMID: 9537881


  238. Puck JM, Willard HF. X inactivation in females with X-linked disease. The New England journal of medicine 1998. PMID: 9445416


  239. Puck JM. Primary immunodeficiency diseases. JAMA 1997. PMID: 9396644


  240. Straus SE, Lenardo M, Puck JM. The Canale-Smith syndrome. The New England journal of medicine 1997. PMID: 9148156


  241. Puck JM, Middelton L, Pepper AE. Carrier and prenatal diagnosis of X-linked severe combined immunodeficiency: mutation detection methods and utilization. Human genetics 1997. PMID: 9150730


  242. 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. PMID: 9058718


  243. 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. The Journal of biological chemistry 1997. PMID: 9054429


  244. 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. The Journal of pediatrics 1997. PMID: 9063412


  245. 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. Experimental hematology 1997. PMID: 9091297


  246. 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. Journal of immunology (Baltimore, Md. : 1950) 1997. PMID: 9029133


  247. 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. PMID: 9028957


  248. Puck JM, Sneller MC. ALPS: an autoimmune human lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis. Seminars in immunology 1997. PMID: 9106310


  249. 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. Journal of clinical immunology 1997. PMID: 9049783


  250. Kim PK, Dutra AS, Chandrasekharappa SC, Puck JM. Genomic structure and mapping of human FADD, an intracellular mediator of lymphocyte apoptosis. Journal of immunology (Baltimore, Md. : 1950) 1996. PMID: 8955195


  251. 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. The New England journal of medicine 1996. PMID: 8943162


  252. Puck JM. IL2RGbase: a database of gamma c-chain defects causing human X-SCID. Immunology today 1996. PMID: 8961626


  253. 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. The EMBO journal 1996. PMID: 8887542


  254. 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. Nature genetics 1996. PMID: 8673127


  255. 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. PMID: 8605322


  256. Dutra AS, Mignot E, Puck JM. Gene localization and syntenic mapping by FISH in the dog. Cytogenetics and cell genetics 1996. PMID: 8893815


  257. Tassara C, Pepper AE, Puck JM. Intronic point mutation in the IL2RG gene causing X-linked severe combined immunodeficiency. Human molecular genetics 1995. PMID: 8541866


  258. 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. American journal of human genetics 1995. PMID: 7668284


  259. 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. PMID: 7540117


  260. 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. The Journal of clinical investigation 1995. PMID: 7860773


  261. 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. PMID: 7829103


  262. 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. PMID: 7829104


  263. Puck JM. Molecular and genetic basis of X-linked immunodeficiency disorders. Journal of clinical immunology 1994. PMID: 8195317


  264. Porter JC, Puck JM. Seven chromosome 22 STR polymorphisms. Human molecular genetics 1994. PMID: 8012367


  265. 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. Cytogenetics and cell genetics 1994. PMID: 8125013


  266. Puck JM. Molecular basis for three X-linked immune disorders. Human molecular genetics 1994. PMID: 7849738


  267. 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. PMID: 8288236


  268. Coffin SE, Puck J. Painful discoloration of the fingernails in a 15-year-old boy. The Pediatric infectious disease journal 1993. PMID: 8414789


  269. 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. Human molecular genetics 1993. PMID: 8401490


  270. Puck JM, Conley ME, Bailey LC. Refinement of linkage of human severe combined immunodeficiency (SCIDX1) to polymorphic markers in Xq13. American journal of human genetics 1993. PMID: 8317482


  271. 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. The Journal of pediatrics 1993. PMID: 8429448


  272. Ammari LK, Puck JM, McGowan KL. Catheter-related Fusarium solani fungemia and pulmonary infection in a patient with leukemia in remission. Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 1993. PMID: 8448293


  273. Puck JM. Prenatal diagnosis and genetic analysis of X-linked immunodeficiency disorders. Pediatric research 1993. PMID: 8433872


  274. Porter JC, Ram KT, Puck JM. Twelve new polymorphic microsatellites on human chromosome 22. Genomics 1993. PMID: 8432551


  275. Puck JM. X-linked immunodeficiencies. Advances in human genetics 1993. PMID: 8317292


  276. 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. American journal of human genetics 1992. PMID: 1550118


  277. Ram KT, Barker DF, Puck JM. Dinucleotide repeat polymorphism at the DXS441 locus. Nucleic acids research 1992. PMID: 1561107


  278. 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). American journal of human genetics 1991. PMID: 1680289


  279. 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. PMID: 1685140


  280. Conley ME, Burks AW, Herrod HG, Puck JM. Molecular analysis of X-linked agammaglobulinemia with growth hormone deficiency. The Journal of pediatrics 1991. PMID: 1880652


  281. Puck JM, Stewart CC, Henthorn PS. A high-frequency RFLP at the human TFE3 locus on the X chromosome. Nucleic acids research 1991. PMID: 1672758


  282. Marshall GS, Ricciardi RP, Rando RF, Puck J, Ge RW, Plotkin SA, Gönczöl E. An adenovirus recombinant that expresses the human cytomegalovirus major envelope glycoprotein and induces neutralizing antibodies. The Journal of infectious diseases 1990. PMID: 2172396


  283. Hicks DG, LiVolsi VA, Neidich JA, Puck JM, Kant JA. Clonal analysis of solitary follicular nodules in the thyroid. The American journal of pathology 1990. PMID: 1975986


  284. 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. PMID: 1972030


  285. Neidich JA, Nussbaum RL, Packer RJ, Emanuel BS, Puck JM. Heterogeneity of clinical severity and molecular lesions in Aicardi syndrome. The Journal of pediatrics 1990. PMID: 1971852


  286. Conley ME, Sullivan JL, Neidich JA, Puck JM. X chromosome inactivation patterns in obligate carriers of X-linked lymphoproliferative syndrome. Clinical immunology and immunopathology 1990. PMID: 1971202


  287. 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. The Journal of clinical investigation 1990. PMID: 2332505


  288. 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. The New England journal of medicine 1990. PMID: 2320067


  289. 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 research 1989. PMID: 2571982


  290. 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. American journal of human genetics 1989. PMID: 2565084


  291. 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. Journal de pharmacie de Belgique 1989. PMID: 2506326


  292. Mandel JL, Willard HF, Nussbaum RL, Romeo G, Puck JM, Davies KE. Report of the committee on the genetic constitution of the X chromosome. Cytogenetics and cell genetics 1989. PMID: 2676379


  293. Conley ME, Puck JM. Definition of the gene loci in X-linked immunodeficiencies. Immunological investigations 1988. PMID: 3058586


  294. Conley ME, Puck JM. Carrier detection in typical and atypical X-linked agammaglobulinemia. The Journal of pediatrics 1988. PMID: 2896233


  295. 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. Proceedings of the National Academy of Sciences of the United States of America 1988. PMID: 2896355


  296. Puck JM, Nussbaum RL, Conley ME. Carrier detection in X-linked severe combined immunodeficiency based on patterns of X chromosome inactivation. The Journal of clinical investigation 1987. PMID: 2883199


  297. 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. PMID: 3012357


  298. Van Lierde S, Puck JM, Campos JM, Plotkin SA. Branhamella catarrhalis sepsis. Pediatric infectious disease 1985. PMID: 4047969


  299. Lewis DE, Puck JM, Babcock GF, Rich RR. Disproportionate expansion of a minor T cell subset in patients with lymphadenopathy syndrome and acquired immunodeficiency syndrome. The Journal of infectious diseases 1985. PMID: 3156193


  300. 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 (New York, N.Y.) 1985. PMID: 3919442