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Journal of Clinical Immunology

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01-01-2020 | Interview

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

Author: Rebecca H. Buckley

Published in: Journal of Clinical Immunology | Issue 1/2020

Excerpt

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

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.PubMed

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.CrossRef

Buckley RH, Wray BB, Belmaker EZ. Extreme hyperimmunoglobulinemia E and undue susceptibility to infection. Pediatrics. 1972;49:59–70.PubMed

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.CrossRef

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.CrossRef

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.CrossRef

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.PubMed

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.PubMed

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.PubMed

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.PubMed

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.CrossRef

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.CrossRef

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.CrossRef

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.CrossRef

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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.CrossRef

16.

Buckley RH. The long quest for neonatal screening for severe combined immunodeficiency. J Allergy Clin Immunol. 2012;129:597–604 quiz 605-596.CrossRef

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.CrossRef

Title: Conversations with Founders of the Field of Human Inborn Errors of Immunity
Author: Rebecca H. Buckley
Publication date: 01-01-2020
Publisher: Springer US
Published in: Journal of Clinical Immunology / Issue 1/2020
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI: https://doi.org/10.1007/s10875-019-00736-y

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