Research Summary

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.

Research Funding

  • September 8, 2020 - August 31, 2025 - Inherited T cell defects: Diagnosis, Mechanisms and Treatments , Co-Principal Investigator . Sponsor: NIH, Sponsor Award ID: P01AI138962
  • September 8, 2020 - August 31, 2025 - Inherited T cell defects: Diagnosis, mechanisms and treatments , Multi-PI . Sponsor: NIH/NIAID, Sponsor Award ID: P01 AI138962-01A1
  • October 1, 2009 - August 31, 2024 - Primary Immunodeficiency Treatment Consortium (PIDTC) (3rd competitive renewal 2019) , Contact PI . Sponsor: NIH/NIAID and NCATS ORD, Sponsor Award ID: U54 AI082973
  • June 1, 2018 - June 30, 2023 - Gene Therapy for Artemis-Deficient Severe Combined Immunodeficiency (ARTSCID) Using a Self-Inactivating Lentiviral Vector (AProArt) to Transduce Autologous CD34 Hematopoietic Stem Cells , Co-PI . Sponsor: California Institute for Regenerative Medicine (CIRM), Sponsor Award ID: CLIN2-10830

Education

Harvard University, Cambridge, MA, BA cum laude, 1971, Biochemistry
Harvard Medical School, Boston, MA, (Harvard-MIT Program in Health Sciences & Technology), MD, 1975, Medicine

Honors & Awards

  • 1984-89
    Physician Scientist Award, NIH
  • 1986-89
    Ethyl Brown Foerderer Scholar, Children's Hospital of Philadelphia
  • 1991
    Election to Society for Pediatric Research
  • 1992
    Election to American Society for Clinical Investigation
  • 1997
    Election to Association of American Physicians
  • 1998
    NHGRI Director's Award for Studies Defining Autoimmune Lymphoproliferative Syndrome
  • 1995, 97, 98, 99
    NHGRI Director's Awards for Scientific Achievement and Outstanding Service
  • 2001
    Election to Committee on Primary Immunodeficiency Disease, IUIS

Selected Publications

  1. Schuetz C, Gerke J, Ege M, Walter J, Kusters M, Worth A, Kanakry JA, Dimitrova D, Wolska-Kusnierz B, Chen K, Unal E, Karakukcu M, Pashchenko O, Leiding J, Kawai T, Amrolia PJ, Berghuis D, Buechner J, Buchbinder D, Cowan MJ, Gennery AR, Güngör T, Heimall J, Miano M, Meyts I, Morris EC, Rivière J, Sharapova SO, Shaw PJ, Slatter M, Honig M, Veys P, Fischer A, Cavazzana M, Moshous D, Schulz A, 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. 2023 02 16; 141(7):713-724.  View on PubMed
  2. 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. N Engl J Med. 2022 Dec 22; 387(25):2344-2355.  View on PubMed
  3. 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. J Clin Immunol. 2023 04; 43(3):636-646.  View on PubMed
  4. 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. J Allergy Clin Immunol. 2023 02; 151(2):539-546.  View on PubMed
  5. 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. J Allergy Clin Immunol. 2023 02; 151(2):547-555.e5.  View on PubMed
  6. 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, Seppänen MRJ, Somech R, Su HC, Sullivan KE, Torgerson TR, Meyts I. The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity. J Clin Immunol. 2022 Oct; 42(7):1508-1520.  View on PubMed
  7. Puck JM. A Spot of Good News: Israeli Experience With SCID Newborn Screening. J Allergy Clin Immunol Pract. 2022 10; 10(10):2732-2733.  View on PubMed
  8. 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. Front Immunol. 2022; 13:987895.  View on PubMed
  9. Cuvelier GDE, Logan BR, Prockop SE, Buckley RH, Kuo CY, Griffith LM, Liu X, Yip A, Hershfield MS, Ayoub PG, Moore TB, Dorsey MJ, O'Reilly RJ, Kapoor N, Pai SY, Kapadia M, Ebens CL, Forbes Satter LR, Burroughs LM, Petrovic A, Chellapandian D, Heimall J, Shyr DC, Rayes A, Bednarski JJ, Chandra S, Chandrakasan S, Gillio AP, Madden L, Quigg TC, Caywood EH, Dávila Saldaña BJ, DeSantes K, Eissa H, Goldman FD, Rozmus J, Shah AJ, Vander Lugt MT, Thakar MS, Parrott RE, Martinez C, Leiding JW, Torgerson TR, Pulsipher MA, Notarangelo LD, Cowan MJ, Dvorak CC, Haddad E, Puck JM, Kohn DB. Outcomes following treatment for ADA-deficient severe combined immunodeficiency: a report from the PIDTC. Blood. 2022 08 18; 140(7):685-705.  View on PubMed
  10. 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, Dávila Saldaña 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 É, Puck JM, Barreiro LB, Decaluwe H. Aberrant T-cell exhaustion in severe combined immunodeficiency survivors with poor T-cell reconstitution after transplantation. J Allergy Clin Immunol. 2023 01; 151(1):260-271.  View on PubMed
  11. 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. Front Immunol. 2022; 13:928252.  View on PubMed
  12. 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. Nat Commun. 2022 06 28; 13(1):3710.  View on PubMed
  13. 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. J Clin Immunol. 2022 Oct; 42(7):1473-1507.  View on PubMed
  14. 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. J Clin Immunol. 2022 07; 42(5):1026-1035.  View on PubMed
  15. 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. Front Immunol. 2022; 13:831279.  View on PubMed
  16. Puck JM, Gennery AR. Establishing Newborn Screening for SCID in the USA; Experience in California. Int J Neonatal Screen. 2021 Oct 31; 7(4).  View on PubMed
  17. 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. J Allergy Clin Immunol. 2022 04; 149(4):1428-1436.  View on PubMed
  18. 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. J Allergy Clin Immunol. 2022 03; 149(3):1113-1119.  View on PubMed
  19. Smith H, Scalchunes C, Cowan MJ, Puck J, Heimall J. Expectations and experience: Parent and patient perspectives regarding treatment for Severe Combined Immunodeficiency (SCID). Clin Immunol. 2021 08; 229:108778.  View on PubMed
  20. 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. J Exp Med. 2021 07 05; 218(7).  View on PubMed

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