Phenotypic variations between affected siblings with ataxia-telangiectasia: ataxia-telangiectasia in Japan

摘要: A nationwide survey was conducted for identifying ataxia-telangiectasia (AT) patients in Japan. Eighty-nine were diagnosed between 1971 and 2006. Detailed clinical laboratory data of 64 including affected siblings collected. Analyses focused on malignancy, therapy-related toxicity, infection, hematological/immunological parameters. The phenotypic variability AT assessed by comparing 26 from 13 families. Malignancy developed 22% the cases associated with a high rate severe complications: chemotherapy-related cardiac toxicity 2 children, hemorrhagic cystitis requiring surgery patients. frequency serious viral infections correlated T cell count. Hypogammaglobulinemia hyper-IgM (HIGM) recorded 5 patients, 3 panhypogammaglobulinemia. Differences immunological parameters noted siblings. Four showed an HIGM phenotype, contrast to their normal IgG IgM levels. phenotype reduced levels TRECs CD27+CD20+ memory B cells. findings suggest that hitherto unidentified modifier genes or exogenous environmental factors can influence overall immune responses. Our along future prospective study will lead better understanding phenotypes care