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Jennifer Puck, MD

Title(s)Professor, Pediatrics
SchoolSchool of Medicine
Address555 Mission Bay Blvd South
San Francisco CA 94158
ORCID ORCID Icon0000-0001-6623-6276 Additional info
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    Harvard UniversityM.D.1975School of Medicine

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    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.

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    Inherited T cell defects: Diagnosis, mechanisms and treatments
    NIH/NIAID P01 AI138962-01A1Sep 8, 2020 - Aug 31, 2025
    Role: Multi-PI
    Role Description: The primary goals of this application are to diagnose primary immunodeficiencies using high-throughput screening, to correct the detected mutations using genome editing techniques, and to understand the functional impacts of the mutations.
    Inherited T cell defects: Diagnosis, Mechanisms and Treatments
    NIH/NIAID P01AI138962Sep 8, 2020 - Aug 31, 2025
    Role: Co-Principal Investigator
    Sequencing of Newborn Blood Spot DNA to Improve and Expand Newborn Screening
    NIH/NICHD U19HD077627Sep 1, 2018 - Aug 31, 2019
    Role: Principal Investigator
    Gene Therapy for Artemis-Deficient Severe Combined Immunodeficiency (ARTSCID) Using a Self-Inactivating Lentiviral Vector (AProArt) to Transduce Autologous CD34 Hematopoietic Stem Cells
    California Institute for Regenerative Medicine (CIRM) CLIN2-10830Jun 1, 2018 - Jun 30, 2023
    Role: Co-PI
    Role Description: Clinical trial of gene transfer for Artemis deficient severe combined immunodeficiency using a self-inactivating lentiviral vector to transduce autologous CD34+ hematopoietic cells
    Primary Immunodeficiency Treatment Consortium (PIDTC) (3rd competitive renewal 2019)
    NIH/NIAID and NCATS ORD U54 AI082973Oct 1, 2009 - Aug 31, 2024
    Role: Contact PI
    Role Description: The Primary Immune Deficiency Treatment Consortium (PIDTC) consists of 47 centers in North America whose shared goal is to improve the outcome of patients with rare, life threatening, inherited disorders of the immune system. The PIDTC conducts prospective, retrospective and cross-sectional studies of the natural history, diagnosis, treatment and outcomes of children with severe combined immune deficiency, Wiskott-Aldrich syndrome, chronic granulomatous disease, and immune regulatory diseases.

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    Collapse Publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Adenosine Deaminase (ADA)-Deficient Severe Combined Immune Deficiency (SCID) in the US Immunodeficiency Network (USIDNet) Registry. J Clin Immunol. 2020 Sep 02. Kuo CY, Garabedian E, Puck J, Cowan MJ, Sullivan KE, Buckley RH, Cunningham-Rundles C, Marsh R, Candotti F, Kohn DB. PMID: 32880085.
      View in: PubMed   Mentions:    Fields:    
    2. Correction: Chronic Granulomatous Disease-Associated IBD Resolves and Does Not Adversely Impact Survival Following Allogeneic HCT. J Clin Immunol. 2020 Aug 29. 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. PMID: 32860171.
      View in: PubMed   Mentions:    Fields:    
    3. The role of exome sequencing in newborn screening for inborn errors of metabolism. Nat Med. 2020 Aug 10. 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. PMID: 32778825.
      View in: PubMed   Mentions: 1     Fields:    
    4. Diagnostic assay to assist clinical decisions for unclassified severe combined immune deficiency. Blood Adv. 2020 Jun 23; 4(12):2606-2610. Bifsha P, Leiding JW, Pai SY, Colamartino ABL, Hartog N, Church JA, Oshrine BR, Puck JM, Markert ML, Haddad E. PMID: 32556280.
      View in: PubMed   Mentions: 1     Fields:    
    5. Excellent outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome: a PIDTC report. Blood. 2020 Jun 04; 135(23):2094-2105. Burroughs LM, Petrovic A, Brazauskas R, Liu X, Griffith LM, Ochs HD, Bleesing JJ, Edwards S, Dvorak CC, Chaudhury S, Prockop SE, Quinones R, Goldman FD, Quigg TC, Chandrakasan S, Smith AR, Parikh S, Dávila Saldaña BJ, Thakar MS, Phelan R, Shenoy S, Forbes LR, Martinez C, Chellapandian D, Shereck E, Miller HK, Kapoor N, Barnum JL, Chong H, Shyr DC, Chen K, Abu-Arja R, Shah AJ, Weinacht KG, Moore TB, Joshi A, DeSantes KB, Gillio AP, Cuvelier GDE, Keller MD, Rozmus J, Torgerson T, Pulsipher MA, Haddad E, Sullivan KE, Logan BR, Kohn DB, Puck JM, Notarangelo LD, Pai SY, Rawlings DJ, Cowan MJ. PMID: 32268350.
      View in: PubMed   Mentions: 2     Fields:    
    6. Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing. Int J Neonatal Screen. 2020 Jun; 6(2). Adhikari AN, Currier RJ, Tang H, Turgeon CT, Nussbaum RL, Srinivasan R, Sunderam U, Kwok PY, Brenner SE, Gavrilov D, Puck JM, Gallagher R. PMID: 32802992.
      View in: PubMed   Mentions:
    7. Hematopoietic Cell Transplantation in Patients With Primary Immune Regulatory Disorders (PIRD): A Primary Immune Deficiency Treatment Consortium (PIDTC) Survey. Front Immunol. 2020; 11:239. Chan AY, Leiding JW, Liu X, Logan BR, Burroughs LM, Allenspach EJ, Skoda-Smith S, Uzel G, Notarangelo LD, Slatter M, Gennery AR, Smith AR, Pai SY, Jordan MB, Marsh RA, Cowan MJ, Dvorak CC, Craddock JA, Prockop SE, Chandrakasan S, Kapoor N, Buckley RH, Parikh S, Chellapandian D, Oshrine BR, Bednarski JJ, Cooper MA, Shenoy S, Davila Saldana BJ, Forbes LR, Martinez C, Haddad E, Shyr DC, Chen K, Sullivan KE, Heimall J, Wright N, Bhatia M, Cuvelier GDE, Goldman FD, Meyts I, Miller HK, Seidel MG, Vander Lugt MT, Bacchetta R, Weinacht KG, Andolina JR, Caywood E, Chong H, de la Morena MT, Aquino VM, Shereck E, Walter JE, Dorsey MJ, Seroogy CM, Griffith LM, Kohn DB, Puck JM, Pulsipher MA, Torgerson TR. PMID: 32153572.
      View in: PubMed   Mentions:    Fields:    
    8. Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. J Clin Immunol. 2020 01; 40(1):66-81. Bousfiha A, Jeddane L, Picard C, Al-Herz W, Ailal F, Chatila T, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Puck J, Torgerson TR, Casanova JL, Sullivan KE, Tangye SG. PMID: 32048120.
      View in: PubMed   Mentions: 7     Fields:    
    9. Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. 2020 01; 40(1):24-64. Tangye SG, Al-Herz W, Bousfiha A, Chatila T, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Picard C, Puck J, Torgerson TR, Casanova JL, Sullivan KE. PMID: 31953710.
      View in: PubMed   Mentions: 26     Fields:    
    10. Correction to: Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. 2020 Jan; 40(1):65. Tangye SG, Al-Herz W, Bousfiha A, Chatila T, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Picard C, Puck J, Torgerson TR, Casanova JL, Sullivan KE. PMID: 32086639.
      View in: PubMed   Mentions: 1     Fields:    
    11. Extended Follow-up After Hematopoietic Cell Transplantation for I?Ba Deficiency with Disseminated Mycobacterium avium Infection. J Clin Immunol. 2020 01; 40(1):248-250. Seghezzo SP, Dvorak CC, Cowan MJ, Puck JM, Dorsey MJ. PMID: 31834557.
      View in: PubMed   Mentions:    Fields:    
    12. Polymer-stabilized Cas9 nanoparticles and modified repair templates increase genome editing efficiency. Nat Biotechnol. 2020 01; 38(1):44-49. Nguyen DN, Roth TL, Li PJ, Chen PA, Apathy R, Mamedov MR, Vo LT, Tobin VR, Goodman D, Shifrut E, Bluestone JA, Puck JM, Szoka FC, Marson A. PMID: 31819258.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    13. Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: A working group report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma & Immunology. J Allergy Clin Immunol. 2020 01; 145(1):46-69. Chinn IK, Chan AY, Chen K, Chou J, Dorsey MJ, Hajjar J, Jongco AM, Keller MD, Kobrynski LJ, Kumanovics A, Lawrence MG, Leiding JW, Lugar PL, Orange JS, Patel K, Platt CD, Puck JM, Raje N, Romberg N, Slack MA, Sullivan KE, Tarrant TK, Torgerson TR, Walter JE. PMID: 31568798.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    14. Chronic Granulomatous Disease-Associated IBD Resolves and Does Not Adversely Impact Survival Following Allogeneic HCT. J Clin Immunol. 2019 10; 39(7):653-667. 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, 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. PMID: 31376032.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    15. Reference intervals for lymphocyte subsets in preterm and term neonates without immune defects. J Allergy Clin Immunol. 2019 12; 144(6):1674-1683. Amatuni GS, Sciortino S, Currier RJ, Naides SJ, Church JA, Puck JM. PMID: 31220471.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCellsCTClinical Trials
    16. Lentiviral Gene Therapy Combined with Low-Dose Busulfan in Infants with SCID-X1. N Engl J Med. 2019 04 18; 380(16):1525-1534. Mamcarz E, Zhou S, Lockey T, Abdelsamed H, Cross SJ, Kang G, Ma Z, Condori J, Dowdy J, Triplett B, Li C, Maron G, Aldave Becerra JC, Church JA, Dokmeci E, Love JT, da Matta Ain AC, van der Watt H, Tang X, Janssen W, Ryu BY, De Ravin SS, Weiss MJ, Youngblood B, Long-Boyle JR, Gottschalk S, Meagher MM, Malech HL, Puck JM, Cowan MJ, Sorrentino BP. PMID: 30995372.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansCellsCTClinical Trials
    17. Low Exposure Busulfan Conditioning to Achieve Sufficient Multilineage Chimerism in Patients with Severe Combined Immunodeficiency. Biol Blood Marrow Transplant. 2019 07; 25(7):1355-1362. Dvorak CC, Long-Boyle J, Dara J, Melton A, Shimano KA, Huang JN, Puck JM, Dorsey MJ, Facchino J, Chang CK, Cowan MJ. PMID: 30876930.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCellsCTClinical Trials
    18. Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency. J Allergy Clin Immunol Pract. 2019 Jul - Aug; 7(6):1970-1985.e4. Farmer JR, Foldvari Z, Ujhazi B, De Ravin SS, Chen K, Bleesing JJH, Schuetz C, Al-Herz W, Abraham RS, Joshi AY, Costa-Carvalho BT, Buchbinder D, Booth C, Reiff A, Ferguson PJ, Aghamohammadi A, Abolhassani H, Puck JM, Adeli M, Cancrini C, Palma P, Bertaina A, Locatelli F, Di Matteo G, Geha RS, Kanariou MG, Lycopoulou L, Tzanoudaki M, Sleasman JW, Parikh S, Pinero G, Fischer BM, Dbaibo G, Unal E, Patiroglu T, Karakukcu M, Al-Saad KK, Dilley MA, Pai SY, Dutmer CM, Gelfand EW, Geier CB, Eibl MM, Wolf HM, Henderson LA, Hazen MM, Bonfim C, Wolska-Kusnierz B, Butte MJ, Hernandez JD, Nicholas SK, Stepensky P, Chandrakasan S, Miano M, Westermann-Clark E, Goda V, Kriván G, Holland SM, Fadugba O, Henrickson SE, Ozen A, Karakoc-Aydiner E, Baris S, Kiykim A, Bredius R, Hoeger B, Boztug K, Pashchenko O, Neven B, Moshous D, Villartay JP, Bousfiha AA, Hill HR, Notarangelo LD, Walter JE. PMID: 30877075.
      View in: PubMed   Mentions: 5     Fields:    
    19. An essential role for the Zn2+ transporter ZIP7 in B cell development. Nat Immunol. 2019 03; 20(3):350-361. 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. PMID: 30718914.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansAnimalsCells
    20. Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010-2017. Pediatrics. 2019 02; 143(2). Amatuni GS, Currier RJ, Church JA, Bishop T, Grimbacher E, Nguyen AA, Agarwal-Hashmi R, Aznar CP, Butte MJ, Cowan MJ, Dorsey MJ, Dvorak CC, Kapoor N, Kohn DB, Markert ML, Moore TB, Naides SJ, Sciortino S, Feuchtbaum L, Koupaei RA, Puck JM. PMID: 30683812.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansCellsPHPublic Health
    21. Newborn screening for severe combined immunodeficiency and T-cell lymphopenia. Immunol Rev. 2019 01; 287(1):241-252. Puck JM. PMID: 30565242.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCellsPHPublic Health
    22. Newborn Screening for Severe Combined Immunodeficiency in the United States: Lessons Learned. Immunol Allergy Clin North Am. 2019 02; 39(1):1-11. Dorsey MJ, Puck JM. PMID: 30466767.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCellsPHPublic Health
    23. The genetic landscape of severe combined immunodeficiency in the United States and Canada in the current era (2010-2018). J Allergy Clin Immunol. 2019 01; 143(1):405-407. 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. PMID: 30193840.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCTClinical Trials
    24. Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency. J Allergy Clin Immunol. 2019 03; 143(3):852-863. Kohn DB, Hershfield MS, Puck JM, Aiuti A, Blincoe A, Gaspar HB, Notarangelo LD, Grunebaum E. PMID: 30194989.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansAnimals
    25. SCID genotype and 6-month posttransplant CD4 count predict survival and immune recovery. Blood. 2018 10 25; 132(17):1737-1749. 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. PMID: 30154114.
      View in: PubMed   Mentions: 18     Fields:    Translation:HumansCells
    26. Lessons for Sequencing from the Addition of Severe Combined Immunodeficiency to Newborn Screening Panels. Hastings Cent Rep. 2018 Jul; 48 Suppl 2:S7-S9. Puck JM. PMID: 30133735.
      View in: PubMed   Mentions:    Fields:    Translation:HumansPHPublic Health
    27. B-cell differentiation and IL-21 response in IL2RG/JAK3 SCID patients after hematopoietic stem cell transplantation. Blood. 2018 06 28; 131(26):2967-2977. 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. PMID: 29728406.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCellsCTClinical Trials
    28. The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies. J Clin Immunol. 2018 01; 38(1):129-143. 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. PMID: 29226301.
      View in: PubMed   Mentions: 71     Fields:    Translation:Humans
    29. International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity. J Clin Immunol. 2018 01; 38(1):96-128. 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. PMID: 29226302.
      View in: PubMed   Mentions: 120     Fields:    Translation:Humans
    30. Whole exome and whole genome sequencing with dried blood spot DNA without whole genome amplification. Hum Mutat. 2018 01; 39(1):167-171. Bassaganyas L, Freedman G, Vaka D, Wan E, Lao R, Chen F, Kvale M, Currier RJ, Puck JM, Kwok PY. PMID: 29067733.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    31. 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. 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. PMID: 29021228.
      View in: PubMed   Mentions: 32     Fields:    Translation:HumansPHPublic Health
    32. Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry. J Allergy Clin Immunol Pract. 2018 May - Jun; 6(3):996-1001. 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. PMID: 28939137.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansAnimalsCells
    33. Neurologic event-free survival demonstrates a benefit for SCID patients diagnosed by newborn screening. Blood Adv. 2017 Sep 12; 1(20):1694-1698. Dvorak CC, Puck JM, Wahlstrom JT, Dorsey M, Melton A, Cowan MJ. PMID: 29296816.
      View in: PubMed   Mentions: 3     Fields:    
    34. Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1). J Allergy Clin Immunol. 2018 04; 141(4):1427-1438. 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. PMID: 28782633.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    35. Newborn Screening for Severe Combined Immunodeficiency in the US: Current Status and Approach to Management. Int J Neonatal Screen. 2017 Jun; 3(2). Dorsey M, Puck J. PMID: 31304419.
      View in: PubMed   Mentions:
    36. 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. 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. PMID: 28479164.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
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    110. 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. 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. PMID: 19443276.
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    111. 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. Shiow LR, Paris K, Akana MC, Cyster JG, Sorensen RU, Puck JM. PMID: 19097825.
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    234. T-cell-depleted maternal bone marrow transplantation for siblings with X-linked severe combined immunodeficiency. J Pediatr. 1993 Feb; 122(2):289-91. Himelstein BP, Puck J, August C, Pierson G, Bunin N. PMID: 8429448.
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    235. Twelve new polymorphic microsatellites on human chromosome 22. Genomics. 1993 Jan; 15(1):57-61. Porter JC, Ram KT, Puck JM. PMID: 8432551.
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    236. Catheter-related Fusarium solani fungemia and pulmonary infection in a patient with leukemia in remission. Clin Infect Dis. 1993 Jan; 16(1):148-50. Ammari LK, Puck JM, McGowan KL. PMID: 8448293.
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    237. X-linked immunodeficiencies. Adv Hum Genet. 1993; 21:107-44. Puck JM. PMID: 8317292.
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    238. Prenatal diagnosis and genetic analysis of X-linked immunodeficiency disorders. Pediatr Res. 1993 Jan; 33(1 Suppl):S29-33; discussion S33-4. Puck JM. PMID: 8433872.
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    239. 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. Puck JM, Stewart CC, Nussbaum RL. PMID: 1550118.
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    240. Dinucleotide repeat polymorphism at the DXS441 locus. Nucleic Acids Res. 1992 Mar 25; 20(6):1428. Ram KT, Barker DF, Puck JM. PMID: 1561107.
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    241. 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. Henthorn PS, Stewart CC, Kadesch T, Puck JM. PMID: 1685140.
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    242. 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. Hirschhorn R, Chakravarti V, Puck J, Douglas SD. PMID: 1680289.
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    243. Molecular analysis of X-linked agammaglobulinemia with growth hormone deficiency. J Pediatr. 1991 Sep; 119(3):392-7. Conley ME, Burks AW, Herrod HG, Puck JM. PMID: 1880652.
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    244. A high-frequency RFLP at the human TFE3 locus on the X chromosome. Nucleic Acids Res. 1991 Feb 11; 19(3):684. Puck JM, Stewart CC, Henthorn PS. PMID: 1672758.
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    245. An adenovirus recombinant that expresses the human cytomegalovirus major envelope glycoprotein and induces neutralizing antibodies. J Infect Dis. 1990 Nov; 162(5):1177-81. Marshall GS, Ricciardi RP, Rando RF, Puck J, Ge RW, Plotkin SA, Gönczöl E. PMID: 2172396.
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    246. Clonal analysis of solitary follicular nodules in the thyroid. Am J Pathol. 1990 Sep; 137(3):553-62. Hicks DG, LiVolsi VA, Neidich JA, Puck JM, Kant JA. PMID: 1975986.
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    247. 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. Puck JM, Siminovitch KA, Poncz M, Greenberg CR, Rottem M, Conley ME. PMID: 1972030.
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    248. Heterogeneity of clinical severity and molecular lesions in Aicardi syndrome. J Pediatr. 1990 Jun; 116(6):911-7. Neidich JA, Nussbaum RL, Packer RJ, Emanuel BS, Puck JM. PMID: 1971852.
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    249. X chromosome inactivation patterns in obligate carriers of X-linked lymphoproliferative syndrome. Clin Immunol Immunopathol. 1990 Jun; 55(3):486-91. Conley ME, Sullivan JL, Neidich JA, Puck JM. PMID: 1971202.
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    250. 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. Conley ME, Buckley RH, Hong R, Guerra-Hanson C, Roifman CM, Brochstein JA, Pahwa S, Puck JM. PMID: 2332505.
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    251. 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. Puck JM, Krauss CM, Puck SM, Buckley RH, Conley ME. PMID: 2320067.
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    252. 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. Smead DL, Nussbaum RL, Puck JM. PMID: 2571982.
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    253. 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. Puck JM, Nussbaum RL, Smead DL, Conley ME. PMID: 2565084.
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    254. Evaluation of the stability and sporicidal activity of three glutaraldehyde solutions during hospital continuous use. J Pharm Belg. 1989 Mar-Apr; 44(2):127-32. Vanhaecke E, Renders W, Decleraq B, Logghe M, Puck J, Renders M. PMID: 2506326.
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    255. Report of the committee on the genetic constitution of the X chromosome. Cytogenet Cell Genet. 1989; 51(1-4):384-437. Mandel JL, Willard HF, Nussbaum RL, Romeo G, Puck JM, Davies KE. PMID: 2676379.
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    256. Definition of the gene loci in X-linked immunodeficiencies. Immunol Invest. 1988 Jul; 17(5):425-63. Conley ME, Puck JM. PMID: 3058586.
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    257. 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. Conley ME, Lavoie A, Briggs C, Brown P, Guerra C, Puck JM. PMID: 2896355.
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    258. Carrier detection in typical and atypical X-linked agammaglobulinemia. J Pediatr. 1988 May; 112(5):688-94. Conley ME, Puck JM. PMID: 2896233.
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    259. Carrier detection in X-linked severe combined immunodeficiency based on patterns of X chromosome inactivation. J Clin Invest. 1987 May; 79(5):1395-400. Puck JM, Nussbaum RL, Conley ME. PMID: 2883199.
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    260. 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. Gold DP, Puck JM, Pettey CL, Cho M, Coligan J, Woody JN, Terhorst C. PMID: 3012357.
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    261. Branhamella catarrhalis sepsis. Pediatr Infect Dis. 1985 Sep-Oct; 4(5):562-3. Van Lierde S, Puck JM, Campos JM, Plotkin SA. PMID: 4047969.
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    262. Gene for alpha-chain of human T-cell receptor: location on chromosome 14 region involved in T-cell neoplasms. Science. 1985 Mar 01; 227(4690):1044-7. Croce CM, Isobe M, Palumbo A, Puck J, Ming J, Tweardy D, Erikson J, Davis M, Rovera G. PMID: 3919442.
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    263. Disproportionate expansion of a minor T cell subset in patients with lymphadenopathy syndrome and acquired immunodeficiency syndrome. J Infect Dis. 1985 Mar; 151(3):555-9. Lewis DE, Puck JM, Babcock GF, Rich RR. PMID: 3156193.
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    264. 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. Miller GP, Puck J. PMID: 6373927.
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    265. Regulatory interactions governing the proliferation of T cell subsets stimulated with pokeweed mitogen. J Immunol. 1984 Mar; 132(3):1106-12. Puck JM, Rich RR. PMID: 6229576.
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    266. Lymphocyte subsets in patients with acquired immunodeficiency syndrome (AIDS), aids-related complex (ARC), and acute viral infections. Trans Assoc Am Physicians. 1984; 97:197-204. Lewis DE, Puck JM, Babcock GF, Rich RR. PMID: 6398947.
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    267. Antigen presentation to human T lymphocytes. II. Requirements for Mac-120+ macrophages and responsiveness to interleukin 2. Cell Immunol. 1983 Mar; 76(2):379-89. Abramson SL, Brown MF, Puck JM, Rich RR. PMID: 6601522.
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    268. Bromodeoxyuridine and light treatment enhances responsiveness of pokeweed mitogen-stimulated human lymphocytes to autologous and allogeneic determinants. Cell Immunol. 1982 Sep 01; 72(1):102-12. Puck JM, Abramson SL, Rich RR. PMID: 6184170.
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    269. Antigen presentation to human T lymphocytes. I. Different requirements for stimulation by hapten-modified cells vs. cell sonicates. J Exp Med. 1981 Oct 01; 154(4):1005-15. Abramson SL, Puck JM, Rich RR. PMID: 6974758.
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    270. Cerebral infarction associated with Mycoplasma pneumoniae. Pediatrics. 1981 Mar; 67(3):373-5. Parker P, Puck J, Fernandez F. PMID: 7243475.
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    271. Computerized tomography in brain biopsy-proven herpes simplex encephalitis. Early normal results. Arch Neurol. 1981 Jan; 38(1):58-9. Greenberg SB, Taber L, Septimus E, Kohl S, Puck J, Bryan RN. PMID: 6970031.
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    272. Protection of infants from infection with influenza A virus by transplacentally acquired antibody. J Infect Dis. 1980 Dec; 142(6):844-9. Puck JM, Glezen WP, Frank AL, Six HR. PMID: 7462695.
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    273. Microneutralization test for influenza A and B and parainfluenza 1 and 2 viruses that uses continuous cell lines and fresh serum enhancement. J Clin Microbiol. 1980 Sep; 12(3):426-32. Frank AL, Puck J, Hughes BJ, Cate TR. PMID: 6260835.
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    274. Role of Ia-positive cells in induction of secondary human immune responses to haptens in vitro. J Exp Med. 1980 Aug 01; 152(2 Pt 2):218s-234s. Rich RR, Abramson SL, Seldin MF, Puck JM, Levy R. PMID: 6967938.
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    275. Recurrence risks for retinoblastoma: a model for autosomal dominant disorders with complex inheritance. J Pediatr Ophthalmol. 1976 Mar; 13(2):89-98. Nussbaum R, Puck J. PMID: 1018187.
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