Tamaki Kato    Department   School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine    Position   Assistant Professor
Article types	Original article
Language	English
Peer review	Peer reviewed
Title	Immunological abnormalities in patients with early-onset ataxia with ocular motor apraxia and hypoalbuminemia.
Journal	Formal name：Clinical immunology (Orlando, Fla.) Abbreviation：Clin Immunol ISSN code：15217035/15216616
Domestic / Foregin	Foregin
Volume, Issue, Page	229,pp.108776
Author and coauthor	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
Authorship	Lead author
Publication date	2021/06
Summary	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.
DOI	10.1016/j.clim.2021.108776
PMID	34118401