Immunological abnormalities in patients with early-onset ataxia with ocular motor apraxia and hypoalbuminemia

Immunological abnormalities in patients with early-onset ataxia with ocular motor apraxia and hypoalbuminemia

Copyright © 2021 Elsevier Inc. All rights reserved.

Bibliographische Detailangaben
Veröffentlicht in:Clinical immunology (Orlando, Fla.). - 1999. - 229(2021) vom: 01. Aug., Seite 108776
1. Verfasser: Kato, Tamaki (VerfasserIn)
Weitere Verfasser: 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
Format: Online-Aufsatz
Sprache:English
Veröffentlicht: 2021
Zugriff auf das übergeordnete Werk:Clinical immunology (Orlando, Fla.)
Schlagworte:Journal Article Research Support, Non-U.S. Gov't DNA double-strand break repair DNA single-strand break repair Early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH) Immunological abnormalities Radiosensitivity APTX protein, human DNA-Binding Proteins Nuclear Proteins
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520 |a 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 
650 4 |a Journal Article 
650 4 |a Research Support, Non-U.S. Gov't 
650 4 |a DNA double-strand break repair 
650 4 |a DNA single-strand break repair 
650 4 |a Early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH) 
650 4 |a Immunological abnormalities 
650 4 |a Radiosensitivity 
650 7 |a APTX protein, human  |2 NLM 
650 7 |a DNA-Binding Proteins  |2 NLM 
650 7 |a Nuclear Proteins  |2 NLM 
700 1 |a Tamura, Yoshiteru  |e verfasserin  |4 aut 
700 1 |a Matsumoto, Hiroshi  |e verfasserin  |4 aut 
700 1 |a Kobayashi, Osamu  |e verfasserin  |4 aut 
700 1 |a Ishiguro, Hideaki  |e verfasserin  |4 aut 
700 1 |a Ogawa, Masaya  |e verfasserin  |4 aut 
700 1 |a Tsujikawa, Koyo  |e verfasserin  |4 aut 
700 1 |a Hasegawa, Yasuhiro  |e verfasserin  |4 aut 
700 1 |a Sakamoto, Mitsuhiro  |e verfasserin  |4 aut 
700 1 |a Konagaya, Masaaki  |e verfasserin  |4 aut 
700 1 |a Houzen, Hideki  |e verfasserin  |4 aut 
700 1 |a Takagi, Masatoshi  |e verfasserin  |4 aut 
700 1 |a Imai, Kohsuke  |e verfasserin  |4 aut 
700 1 |a Morio, Tomohiro  |e verfasserin  |4 aut 
700 1 |a Yokoseki, Akio  |e verfasserin  |4 aut 
700 1 |a Onodera, Osamu  |e verfasserin  |4 aut 
700 1 |a Nonoyama, Shigeaki  |e verfasserin  |4 aut 
773 0 8 |i Enthalten in  |t Clinical immunology (Orlando, Fla.)  |d 1999  |g 229(2021) vom: 01. Aug., Seite 108776  |w (DE-627)NLM098196855  |x 1521-7035  |7 nnns 
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856 4 0 |u http://dx.doi.org/10.1016/j.clim.2021.108776  |3 Volltext 
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