Atypical immune phenotype in severe combined immunodeficiency patients with novel mutations in IL2RG and JAK3
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics,Immunology
Link
https://www.nature.com/articles/s41435-020-00111-7.pdf
Reference45 articles.
1. Buckley RH. Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. Annu Rev Immunol. 2004;22:625–55.
2. Noguchi M, Yi H, Rosenblatt HM, Filipovich AH, Adelstein S, Modi WS, et al. Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. Cell. 1993;73:147–57.
3. Roberts JL, Lengi A, Brown SM, Chen M, Zhou YJ, O’Shea JJ, et al. Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation. Blood. 2004;103:2009–18.
4. O’Shea JJ, Notarangelo LD, Johnston JA, Candotti F. Advances in the understanding of cytokine signal transduction: the role of Jaks and STATs in immunoregulation and the pathogenesis of immunodeficiency. J Clin Immunol. 1997;17:431–47.
5. Rochman Y, Spolski R, Leonard WJ. New insights into the regulation of T cells by gamma(c) family cytokines. Nat Rev Immunol. 2009;9:480–90.
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