Late-Onset Combined Immunodeficiency with a Novel IL2RG Mutation and Probable Revertant Somatic Mosaicism-Reference-Cited by-同舟云学术

Late-Onset Combined Immunodeficiency with a Novel IL2RG Mutation and Probable Revertant Somatic Mosaicism

Published:2015-09-26 Issue:7 Volume:35 Page:610-614
ISSN:0271-9142
Container-title:Journal of Clinical Immunology
language:en
Short-container-title:J Clin Immunol

Author:

Okuno Yusuke,Hoshino Akihiro,Muramatsu Hideki,Kawashima Nozomu,Wang Xinan,Yoshida Kenichi,Wada Taizo,Gunji Masaharu,Toma Tomoko,Kato Tamaki,Shiraishi Yuichi,Iwata Atsuko,Hori Toshinori,Kitoh Toshiyuki,Chiba Kenichi,Tanaka Hiroko,Sanada Masashi,Takahashi Yoshiyuki,Nonoyama Shigeaki,Ito Masafumi,Miyano Satoru,Ogawa Seishi,Kojima Seiji,Kanegane Hirokazu

Publisher

Springer Science and Business Media LLC

Subject

Immunology,Immunology and Allergy

Link

http://link.springer.com/content/pdf/10.1007/s10875-015-0202-0.pdf

Reference12 articles.

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2. de Villartay JP, Lim A, Al-Mousa H, Dupont S, Dechanet-Merville J, Coumau-Gatbois E, et al. A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection. J Clin Invest. 2005;115(11):3291–9.

3. Kuijpers TW, van Leeuwen EM, Barendregt BH, Klarenbeek P. aan de kerk DJ, baars PA et al. A reversion of an IL2RG mutation in combined immunodeficiency providing competitive advantage to the majority of CD8+ T cells. Haematologica. 2013;98(7):1030–8.

4. Yoshida K, Sanada M, Shiraishi Y, Nowak D, Nagata Y, Yamamoto R, et al. Frequent pathway mutations of splicing machinery in myelodysplasia. Nature. 2011;478(7367):64–9.

5. Kunishima S, Okuno Y, Yoshida K, Shiraishi Y, Sanada M, Muramatsu H, et al. ACTN1 mutations cause congenital macrothrombocytopenia. Am J Hum Genet 2013;92(3):431–438.

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