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Article

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

Blood - 7 Jun 2012

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

Abstract excerpt

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...

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PMID: 22517901
DOI: 10.1182/blood-2011-05-354167

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EDA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Frequent somatic mosaicism of NEMO in T cells of patients with X-linked anhidrotic ectodermal dysplasia with immunodeficiency.PMID 22517901Read ↗

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