Frequent somatic mosaicism of NEMO in T cells of patients with X-linked anhidrotic ectodermal dysplasia with immunodeficiency
| Autor: | Yuki Kiyohara, Tomoyuki Mizukami, Takahiro Yasumi, Etsuro Ito, Toshio Heike, Ryuta Nishikomori, Atsushi Yoden, Chihaya Imai, Tatsutoshi Nakahata, Satoshi Okada, Yuki Takaoka, Naoko Tanaka, Megumu K. Saito, Hiroshi Akutagawa, Yuuki Murata, Takuji Murata, Masao Kobayashi, Hiroyuki Nunoi, Tomoki Kawai, Shinya Sasaki, Toshinao Kawai, Kazushi Izawa, Hidemasa Sakai |
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| Rok vydání: | 2012 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities Ectodermal dysplasia T-Lymphocytes Immunology Biology medicine.disease_cause Biochemistry Asian People Gene duplication IKBKG medicine Humans Hypohidrotic ectodermal dysplasia skin and connective tissue diseases Immunodeficiency Cell Proliferation Mutation Ectodermal Dysplasia 1 Anhidrotic Mosaicism Immunologic Deficiency Syndromes Infant Newborn Infant Cell Biology Hematology medicine.disease Phenotype I-kappa B Kinase Child Preschool Primary immunodeficiency |
| Zdroj: | Blood. 119:5458-5466 |
| ISSN: | 1528-0020 0006-4971 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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