Clinical immunology (Orlando, Fla.) · 2021
Immunological abnormalities in patients with early-onset ataxia with ocular motor apraxia and hypoalbuminemia.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Kato Tamaki, Tamura Yoshiteru, Matsumoto Hiroshi, Kobayashi Osamu, Ishiguro Hideaki, Ogawa Masaya, Tsujikawa Koyo, Hasegawa Yasuhiro, Sakamoto Mitsuhiro, Konagaya Masaaki, Houzen Hideki, Takagi Masatoshi, Imai Kohsuke, Morio Tomohiro, Yokoseki Akio, Onodera Osamu, Nonoyama Shigeaki
Аннотация
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.