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

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 involved DNA single-strand break repair (SSBR). The neurological abnormalities associated EAOH are similar to those observed patients ataxia-telangiectasia. However, immunological have not been described. In this study, we report that abnormalities, including lymphopenia; decreased levels of CD4+ T-cells, CD8+ B-cells; hypogammaglobulinemia; low T-cell recombination excision circles kappa-deleting element circles; oligoclonality receptor β-chain variable repertoire. These vary among patients. Additionally, mild radiosensitivity lymphocytes obtained from was demonstrated. findings suggested evident could be probably defects.