論文

査読有り
2012年6月

Frequent somatic mosaicism of NEMO in T cells of patients with X-linked anhidrotic ectodermal dysplasia with immunodeficiency

BLOOD
  • Tomoki Kawai
  • Ryuta Nishikomori
  • Kazushi Izawa
  • Yuuki Murata
  • Naoko Tanaka
  • Hidemasa Sakai
  • Megumu Saito
  • Takahiro Yasumi
  • Yuki Takaoka
  • Tatsutoshi Nakahata
  • Tomoyuki Mizukami
  • Hiroyuki Nunoi
  • Yuki Kiyohara
  • Atsushi Yoden
  • Takuji Murata
  • Shinya Sasaki
  • Etsuro Ito
  • Hiroshi Akutagawa
  • Toshinao Kawai
  • Chihaya Imai
  • Satoshi Okada
  • Masao Kobayashi
  • Toshio Heike
  • 全て表示

119
23
開始ページ
5458
終了ページ
5466
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1182/blood-2011-05-354167
出版者・発行元
AMER SOC HEMATOLOGY

Somatic mosaicism has been described in several primary immunodeficiency diseases and causes modified phenotypes in affected patients. X-linked anhidrotic ectodermal dysplasia with immunodeficiency (XL-EDA-ID) is caused by hypomorphic mutations in the NF-kappa B essential modulator (NEMO) gene and manifests clinically in various ways. We have previously reported a case of XL-EDA-ID with somatic mosaicism caused by a duplication mutation of the NEMO gene, but the frequency of somatic mosaicism of NEMO and its clinical impact on XL-EDA-ID is not fully understood. In this study, somatic mosaicism of NEMO was evaluated in XL-EDA-ID patients in Japan. Cells expressing wild-type NEMO, most of which were derived from the T-cell lineage, were detected in 9 of 10 XL-EDA-ID patients. These data indicate that the frequency of somatic mosaicism of NEMO is high in XL-ED-ID patients and that the presence of somatic mosaicism of NEMO could have an impact on the diagnosis and treatment of XL-ED-ID patients. (Blood. 2012;119(23):5458-5466)

リンク情報
DOI
https://doi.org/10.1182/blood-2011-05-354167
Web of Science
https://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=JSTA_CEL&SrcApp=J_Gate_JST&DestLinkType=FullRecord&KeyUT=WOS:000307391400020&DestApp=WOS_CPL
ID情報
  • DOI : 10.1182/blood-2011-05-354167
  • ISSN : 0006-4971
  • Web of Science ID : WOS:000307391400020

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