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

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

doi:10.1182/blood-2011-05-354167

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

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 ImaiSatoshi Okada, Masao Kobayashi, Toshio Heike

^*Corresponding author for this work

Pediatrics

Research output: Contribution to journal › Article › peer-review

30 Scopus citations

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.

Original language	English
Pages (from-to)	5458-5466
Number of pages	9
Journal	Blood
Volume	119
Issue number	23
DOIs	https://doi.org/10.1182/blood-2011-05-354167
State	Published - 2012/06/07

ASJC Scopus subject areas

Biochemistry
Immunology
Hematology
Cell Biology

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Kawai, T., Nishikomori, R., Izawa, K., Murata, Y., Tanaka, N., Sakai, H., Saito, M., Yasumi, T., Takaoka, Y., Nakahata, T., Mizukami, T., Nunoi, H., Kiyohara, Y., Yoden, A., Murata, T., Sasaki, S., Ito, E., Akutagawa, H., Kawai, T., ... Heike, T. (2012). Frequent somatic mosaicism of NEMO in T cells of patients with X-linked anhidrotic ectodermal dysplasia with immunodeficiency. Blood, 119(23), 5458-5466. https://doi.org/10.1182/blood-2011-05-354167

@article{628d02e384814ea5bed3b506dccae23b,

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.",

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

year = "2012",

month = jun,

day = "7",

doi = "10.1182/blood-2011-05-354167",

language = "英語",

volume = "119",

pages = "5458--5466",

journal = "Blood",

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Kawai, T, Nishikomori, R, Izawa, K, Murata, Y, Tanaka, N, Sakai, H, Saito, M, Yasumi, T, Takaoka, Y, Nakahata, T, Mizukami, T, Nunoi, H, Kiyohara, Y, Yoden, A, Murata, T, Sasaki, S, Ito, E, Akutagawa, H, Kawai, T, Imai, C, Okada, S, Kobayashi, M & Heike, T 2012, 'Frequent somatic mosaicism of NEMO in T cells of patients with X-linked anhidrotic ectodermal dysplasia with immunodeficiency', Blood, vol. 119, no. 23, pp. 5458-5466. https://doi.org/10.1182/blood-2011-05-354167

TY - JOUR

T1 - Frequent somatic mosaicism of NEMO in T cells of patients with X-linked anhidrotic ectodermal dysplasia with immunodeficiency

AU - Kawai, Tomoki

AU - Nishikomori, Ryuta

AU - Izawa, Kazushi

AU - Murata, Yuuki

AU - Tanaka, Naoko

AU - Sakai, Hidemasa

AU - Saito, Megumu

AU - Yasumi, Takahiro

AU - Takaoka, Yuki

AU - Nakahata, Tatsutoshi

AU - Mizukami, Tomoyuki

AU - Nunoi, Hiroyuki

AU - Kiyohara, Yuki

AU - Yoden, Atsushi

AU - Murata, Takuji

AU - Sasaki, Shinya

AU - Ito, Etsuro

AU - Akutagawa, Hiroshi

AU - Kawai, Toshinao

AU - Imai, Chihaya

AU - Okada, Satoshi

AU - Kobayashi, Masao

AU - Heike, Toshio

PY - 2012/6/7

Y1 - 2012/6/7

N2 - 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.

AB - 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.

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U2 - 10.1182/blood-2011-05-354167

DO - 10.1182/blood-2011-05-354167

M3 - 学術論文

C2 - 22517901

AN - SCOPUS:84862563132

SN - 0006-4971

VL - 119

SP - 5458

EP - 5466

JO - Blood

JF - Blood

IS - 23

ER -

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

Abstract

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