論文

査読有り 国際誌
2012年6月7日

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
66
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

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-κB 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.

リンク情報
DOI
https://doi.org/10.1182/blood-2011-05-354167
J-GLOBAL
https://jglobal.jst.go.jp/detail?JGLOBAL_ID=201202294264190313
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/22517901
ID情報
  • DOI : 10.1182/blood-2011-05-354167
  • ISSN : 0006-4971
  • ISSN : 1528-0020
  • J-Global ID : 201202294264190313
  • PubMed ID : 22517901

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