Ataxia-telangiectasia (A-T). Contribution with eighteen personal cases.
Eighteen patients with ataxia-telangiectasia are presented. They belong to only one series. They are 7 males and 11 females aged between 17 months and 12 years. All of them presented the usual signs of the illness. There was more than one sibling affected in three families, in one of them three brothers and one second cousin of theirs. The immunological studies showed a deficit of IgA in 13 cases and an absence of IgG in one case. Six children died, one of which suffered from lymphosarcoma. The other appear to have died of infectious respiratory problems. The clinical picture deteriorated progressively in the majority of the cases, although in some of them a halt in the progression of the illness was observed for some time.
D000917:Antibody Formation; D001260:Ataxia Telangiectasia / Q000276:immunology / Q000473:pathology / Q000503:physiopathology*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007111:Immunity, Cellular; D007122:Immunoelectrophoresis; D007071:Immunoglobulin A, Secretory / Q000032:analysis; D007136:Immunoglobulins / Q000032:analysis; D007223:Infant; D008168:Lung / Q000000981:diagnostic imaging; D008171:Lung Diseases / Q000150:complications; D008297:Male; D009460:Neurologic Examination; D011859:Radiography
D007071:Immunoglobulin A, Secretory; D007136:Immunoglobulins