A synonymous splice site mutation in IL2RG gene causes late-onset combined immunodeficiency-Reference-Cited by-同舟云学术

A synonymous splice site mutation in IL2RG gene causes late-onset combined immunodeficiency

Published:2019-03-08 Issue:5 Volume:109 Page:603-611
ISSN:0925-5710
Container-title:International Journal of Hematology
language:en
Short-container-title:Int J Hematol

Author:

Yamashita Motoi^ORCID,Wakatsuki Ryosuke,Kato Tamaki,Okano Tsubasa,Yamanishi Shingo,Mayumi Nobuko,Tanaka Mayuri,Ogura Yumi,Kanegane Hirokazu,Nonoyama Shigeaki,Imai Kohsuke,Morio Tomohiro

Funder

Japan Society for the Promotion of Science

Japan Agency for Medical Research and Development

Publisher

Springer Science and Business Media LLC

Subject

Hematology

Link

http://link.springer.com/content/pdf/10.1007/s12185-019-02619-9.pdf

Reference25 articles.

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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. Puck JM, Deschênes SM, Porter JC, Dutra AS, Brown CJ, Willard HF, et al. The interleukin-2 receptor γ chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1. Hum Mol Genet. 1993;2:1099–104.

4. 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.

5. Gray PEA, Logan GJ, Alexander IE, Poulton S, Roscioli T, Ziegler J. A novel intronic splice site deletion of the IL-2 receptor common gamma chain results in expression of a dysfunctional protein and T-cell-positive X-linked Severe combined immunodeficiency. Int J Immunogenet. 2015;42:11–4.

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