カトウ　タマキ   Katou Tamaki   加藤　環    所属   医学部 医学科（東京女子医科大学病院）    職種   講師
論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	Late-Onset Combined Immunodeficiency with a Novel IL2RG Mutation and Probable Revertant Somatic Mosaicism.
掲載誌名	正式名：Journal of clinical immunology 略　 称：J Clin Immunol ISSNコード：15732592/02719142
掲載区分	国内
巻・号・頁	35(7),pp.610-4
著者・共著者	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
発行年月	2015/10
概要	Primary immunodeficiency disease (PID) is caused by mutations of more than two hundred immunity-related genes. In addition to the heterogeneity of the diseases, the atypical presentation of each disease caused by hypomorphic mutations or somatic mosaicism makes genetic diagnosis challenging. Next-generation sequencing tests all genes simultaneously and has proven its innovative efficacy in genomics. We describe a male PID patient without any family history of immunodeficiency. This patient suffered from recurrent infections from 1 year of age. Laboratory analysis showed hypogammaglobulinemia. T, B, and NK cells were present, but the T cell proliferative response decreased. Whole-exome sequencing analysis identified an IL2RG p.P58T missense mutation. CD8(+) and CD56(+) cells showed revertant somatic mosaicism to the wild-type allele. A late-onset and atypical presentation of the X-linked severe combined immunodeficiency (X-SCID) phenotype might be associated with revertant somatic mosaicism in T and NK cells. This patient is the seventh reported case of X-SCID with revertant somatic mosaicism. His classical clinical management did not result in a molecular diagnosis because of the atypical presentation. The coverage that is provided by whole-exome sequencing of most PID genes effectively excluded differential diagnoses other than X-SCID. As next-generation sequencing becomes available in clinical practice, it will enhance our knowledge of PID and rescue currently undiagnosed patients.
DOI	10.1007/s10875-015-0202-0
PMID	26407811