Detection of T lymphocytes with a second-site mutation in skin lesions of atypical X-linked severe combined immunodeficiency mimicking Omenn syndrome
| Autor: | Masami Inoue, Taizo Wada, Mika Nishida, Masaki Shimizu, Yuko Nakayama, Shoichi Koizumi, Yoshihito Kasahara, Tomoko Toma, Akihiro Yachie, Michiko Okajima, Keisei Kawa, Masahiro Yasui |
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| Rok vydání: | 2008 |
| Předmět: |
Male
T-Lymphocytes DNA Mutational Analysis Immunology Biology X-Linked Combined Immunodeficiency Diseases Biochemistry Diagnosis Differential medicine Humans Amino Acid Sequence X-linked severe combined immunodeficiency Skin Common gamma chain Severe combined immunodeficiency Messenger RNA Base Sequence medicine.diagnostic_test Immunologic Deficiency Syndromes Infant Cell Biology Hematology medicine.disease Omenn syndrome Killer Cells Natural Phenotype Mutation RNA splicing Skin biopsy RNA Splice Sites Infiltration (medical) Interleukin Receptor Common gamma Subunit |
| Zdroj: | Blood. 112:1872-1875 |
| ISSN: | 1528-0020 0006-4971 |
| DOI: | 10.1182/blood-2008-04-149708 |
| Popis: | X-linked severe combined immunodeficiency (XSCID) is caused by mutations of the common gamma chain (γc) and usually characterized by the absence of T and natural killer (NK) cells. Here, we report an atypical case of XSCID presenting with autologous T and NK cells and Omenn syndrome-like manifestations. The patient carried a splice-site mutation (IVS1+5G>A) that caused most of the mRNA to be incorrectly spliced but produced normally spliced transcript in lesser amount, leading to residual γc expression and development of T and NK cells. The skin biopsy specimen showed massive infiltration of revertant T cells. Those T cells were found to have a second-site mutation and result in complete restoration of correct splicing. These findings suggest that the clinical spectrum of XSCID is quite broad and includes atypical cases mimicking Omenn syndrome, and highlight the importance of revertant mosaicism as a possible cause for variable phenotypic expression. |
| Databáze: | OpenAIRE |
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