Conversations with Founders of the Field of Human Inborn Errors of Immunity

  • Rebecca H. BuckleyEmail author

Jean-Laurent Casanova (JLC):Rebecca, could you please tell us about your ancestry and education?

Rebecca H Buckley (RHB): My ancestry is Scotch Irish: English. My father’s family had come to this country several generations before and settled in Virginia and North Carolina. My mother’s family had also come to this country several generations before and she grew up in South Carolina. I grew up in Hamlet, North Carolina, a small railroad town of about 5000 people where my father was a general practitioner and my mother a school teacher. My father took house calls and the telephone was right outside my bedroom door so I heard most conversations. My father also took care of people who got sick on the train. My aunt, who also lived with us, taught me in the fourth grade in a small primary school and then I went to high school where I graduated in a class of 55 students. I was the only one who went to college. I also took piano lessons throughout my childhood.

JLC:How about college and...



  1. 1.
    Claassen JL, Levine AD, Buckley RH. Recombinant human IL-4 induces IgE and IgG synthesis by normal and atopic donor mononuclear cells. Similar dose response, time course, requirement for T cells, and effect of pokeweed mitogen. J Immunol. 1990;144:2123–30.PubMedGoogle Scholar
  2. 2.
    Claasen JJ, Levine AD, Schiff SE, Buckley RH. Mononuclear cells from patients with the hyper-IgE syndrome produce little IgE when they are stimulated with recombinant human interleukin-4. J Allergy Clin Immunol. 1991;88:713–21.CrossRefGoogle Scholar
  3. 3.
    Buckley RH, Wray BB, Belmaker EZ. Extreme hyperimmunoglobulinemia E and undue susceptibility to infection. Pediatrics. 1972;49:59–70.PubMedGoogle Scholar
  4. 4.
    Minegishi Y, Saito M, Tsuchiya S, Tsuge I, Takada H, Hara T, et al. Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. Nature. 2007;448:1058–62.CrossRefGoogle Scholar
  5. 5.
    Beziat V, Li J, Lin JX, Ma CS, Li P, Bousfiha A, et al. A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity. Sci Immunol. 2018;3:eaat4956.CrossRefGoogle Scholar
  6. 6.
    Frey-Jakobs S, Hartberger JM, Fliegauf M, Bossen C, Wehmeyer ML, Neubauer JC, et al. ZNF341 controls STAT3 expression and thereby immunocompetence. Sci Immunol. 2018;3:eaat4941.CrossRefGoogle Scholar
  7. 7.
    Buckley RH, Schiff SE, Sampson HA, Schiff RI, Markert ML, Knutsen AP, et al. Development of immunity in human severe primary T cell deficiency following haploidentical bone marrow stem cell transplantation. J Immunol. 1986;136:2398–407.PubMedGoogle Scholar
  8. 8.
    Schiff SE, Buckley RH. Modified responses to recipient and donor B cells by genetically donor T cells from human haploidentical bone marrow chimeras. J Immunol. 1987;138:2088–94.PubMedGoogle Scholar
  9. 9.
    Roberts JL, Volkman DJ, Buckley RH. Modified MHC restriction of donor-origin T cells in humans with severe combined immunodeficiency transplanted with haploidentical bone marrow stem cells. J Immunol. 1989;143:1575–9.PubMedGoogle Scholar
  10. 10.
    Puck JM, Pepper AE, Henthorn PS, Candotti F, Isakov J, Whitwam T, et al. Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency. Blood. 1997;89:1968–77.PubMedGoogle Scholar
  11. 11.
    Russell SM, Tayebi N, Nakajima H, Riedy MC, Roberts JL, Aman MJ, et al. Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development. Science. 1995;270:797–800.CrossRefGoogle Scholar
  12. 12.
    Puel A, Ziegler SF, Buckley RH, Leonard WJ. Defective IL7R expression in T(−)B(+)NK(+) severe combined immunodeficiency. Nat Genet. 1998;20:394–7.CrossRefGoogle Scholar
  13. 13.
    Buckley RH, Schiff SE, Schiff RI, Markert L, Williams LW, Roberts JL, et al. Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency. N Engl J Med. 1999;340:508–16.CrossRefGoogle Scholar
  14. 14.
    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;99:872–8.CrossRefGoogle Scholar
  15. 15.
    Buckley RH, Schiff RI, Schiff SE, Markert ML, Williams LW, Harville TO, et al. Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants. J Pediatr. 1997;130:378–87.CrossRefGoogle Scholar
  16. 16.
    Buckley RH. The long quest for neonatal screening for severe combined immunodeficiency. J Allergy Clin Immunol. 2012;129:597–604 quiz 605-596.CrossRefGoogle Scholar
  17. 17.
    Jain MK, Cheung VG, Utz PJ, Kobilka BK, Yamada T, Lefkowitz R. Saving the endangered physician-scientist-a plan for accelerating medical breakthroughs. N Engl J Med. 2019;381:399–402.CrossRefGoogle Scholar

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© Springer Science+Business Media, LLC, part of Springer Nature 2020

Authors and Affiliations

  1. 1.Department of Pediatrics and ImmunologyDuke University School of MedicineDurhamUSA

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