[Immunologic and cytogenetic aspects of ataxia telangiectasia].
Immunological and cytogenetic studies were performed in 6 patients with ataxia telangiectasia (AT). Immunological disturbances were found in these patients: immunoglobulin deficiencies (IgA, IgE, IgG2 and IgG4), decreased cellular immunity and a defect in the synthesis of specific antibodies. Cytogenetic studies revealed chromosome 7 and/or 14 abnormalities in all patients. X-irradiation of AT cells induced an excessive increase in chromosome and chromatid breaks. The DNA synthesis inhibition after X rays was less in AT patients compared to controls. The possibilities of early diagnosis and the eventual relationship between immunological and cytogenetic findings are discussed.
D000293:Adolescent; D000361:Agammaglobulinemia / Q000276:immunology*; D000917:Antibody Formation; D001260:Ataxia Telangiectasia / Q000235:genetics / Q000276:immunology*; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002902:Chromosomes, Human, 16-18; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D007136:Immunoglobulins / Q000032:analysis; D008297:Male; D013601:T-Lymphocytes / Q000276:immunology
D007136:Immunoglobulins
Immunologische en cytogenetische aspecten van ataxia telangiectasia.