title: Frequent somatic mosaicism of NEMO in T cells of patients with X-linked anhidrotic ectodermal dysplasia with immunodeficiency.
abstract: 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.
authors.affiliation: Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: Tomoki
authors.initials: T
authors.lastname: Kawai
authors.forename: Ryuta
authors.initials: R
authors.lastname: Nishikomori
authors.forename: Kazushi
authors.initials: K
authors.lastname: Izawa
authors.forename: Yuuki
authors.initials: Y
authors.lastname: Murata
authors.forename: Naoko
authors.initials: N
authors.lastname: Tanaka
authors.forename: Hidemasa
authors.initials: H
authors.lastname: Sakai
authors.forename: Megumu
authors.initials: M
authors.lastname: Saito
authors.forename: Takahiro
authors.initials: T
authors.lastname: Yasumi
authors.forename: Yuki
authors.initials: Y
authors.lastname: Takaoka
authors.forename: Tatsutoshi
authors.initials: T
authors.lastname: Nakahata
authors.forename: Tomoyuki
authors.initials: T
authors.lastname: Mizukami
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Nunoi
authors.forename: Yuki
authors.initials: Y
authors.lastname: Kiyohara
authors.forename: Atsushi
authors.initials: A
authors.lastname: Yoden
authors.forename: Takuji
authors.initials: T
authors.lastname: Murata
authors.forename: Shinya
authors.initials: S
authors.lastname: Sasaki
authors.forename: Etsuro
authors.initials: E
authors.lastname: Ito
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Akutagawa
authors.forename: Toshinao
authors.initials: T
authors.lastname: Kawai
authors.forename: Chihaya
authors.initials: C
authors.lastname: Imai
authors.forename: Satoshi
authors.initials: S
authors.lastname: Okada
authors.forename: Masao
authors.initials: M
authors.lastname: Kobayashi
authors.forename: Toshio
authors.initials: T
authors.lastname: Heike
mesh_terms: D044466:Asian People / Q000235:genetics; D049109:Cell Proliferation; D002675:Child, Preschool; D053358:Ectodermal Dysplasia 1, Anhidrotic / Q000150:complications* / Q000235:genetics* / Q000276:immunology; D006801:Humans; D051550:I-kappa B Kinase / Q000235:genetics*; D007153:Immunologic Deficiency Syndromes / Q000150:complications* / Q000235:genetics / Q000276:immunology; D007223:Infant; D007231:Infant, Newborn; D009030:Mosaicism; D010641:Phenotype; D013601:T-Lymphocytes / Q000166:cytology / Q000276:immunology / Q000378:metabolism*
chemical_list: C491731:IKBKG protein, human; D051550:I-kappa B Kinase