1. Immunological abnormalities in patients with early-onset ataxia with ocular motor apraxia and hypoalbuminemia
- Author
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Tomohiro Morio, Kohsuke Imai, Masaaki Konagaya, Yoshiteru Tamura, Hiroshi Matsumoto, Hideki Houzen, Shigeaki Nonoyama, Masatoshi Takagi, Osamu Onodera, Mitsuhiro Sakamoto, Akio Yokoseki, Hideaki Ishiguro, Tamaki Kato, Masaya Ogawa, Yasuhiro Hasegawa, Koyo Tsujikawa, and Osamu Kobayashi
- Subjects
0301 basic medicine ,Adult ,Male ,Ataxia ,Adolescent ,Cerebellar Ataxia ,DNA Repair ,DNA repair ,Apraxias ,T-Lymphocytes ,Immunology ,aptX ,medicine.disease_cause ,Radiation Tolerance ,Hypogammaglobulinemia ,03 medical and health sciences ,Young Adult ,0302 clinical medicine ,medicine ,Immunology and Allergy ,Humans ,Hypoalbuminemia ,DNA Breaks, Single-Stranded ,Child ,Aprataxin ,Mutation ,business.industry ,Genetic Variation ,Nuclear Proteins ,Middle Aged ,medicine.disease ,DNA-Binding Proteins ,Genes, T-Cell Receptor ,030104 developmental biology ,Case-Control Studies ,Female ,medicine.symptom ,business ,CD8 ,030215 immunology - Abstract
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH) is a neurodegenerative disorder caused by mutation in the aprataxin (APTX)-coding gene APTX, which is involved in DNA single-strand break repair (SSBR). The neurological abnormalities associated with EAOH are similar to those observed in patients with ataxia-telangiectasia. However, the immunological abnormalities in patients with EAOH have not been described. In this study, we report that EAOH patients have immunological abnormalities, including lymphopenia; decreased levels of CD4+ T-cells, CD8+ T-cells, and B-cells; hypogammaglobulinemia; low T-cell recombination excision circles and kappa-deleting element recombination circles; and oligoclonality of T-cell receptor β-chain variable repertoire. These immunological abnormalities vary among the EAOH patients. Additionally, mild radiosensitivity in the lymphocytes obtained from the patients with EAOH was demonstrated. These findings suggested that the immunological abnormalities and mild radiosensitivity evident in patients with EAOH could be probably caused by the DNA repair defects.
- Published
- 2020