Immunological abnormalities in patients with early-onset ataxia with ocular motor apraxia and hypoalbuminemia
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.PMID:34118401 | DOI:10.1016/j.clim.2021.108776
Source: Clinical Immunology - Category: Allergy & Immunology Authors: Tamaki Kato Yoshiteru Tamura Hiroshi Matsumoto Osamu Kobayashi Hideaki Ishiguro Masaya Ogawa Koyo Tsujikawa Yasuhiro Hasegawa Mitsuhiro Sakamoto Masaaki Konagaya Hideki Houzen Masatoshi Takagi Kohsuke Imai Tomohiro Morio Akio Yokoseki Osamu Onodera Shigea Source Type: research
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