Ataxia-telangiectasia: a clinical and laboratory review study of 14 cases.
Fourteen patients with ataxia-telangiectasia and 10 relatives were studied. Besides neurological examination, laboratorial investigations as to their immunological condition were carried out. In this study, our attention was attracted to the most frequent and relevant laboratorial data being decreased serum and salivary levels of IgA, decreased rate of blastic transformation of lymphocytes and increased serum levels of alpha-fetoprotein (AFP). On the other hand, no patient showed increased levels of carcinoembryonic antigen (CEA). Our population reported a consanguinity rate of 28.5%.
Escola Paulista de Medicina, São Paulo, Brazil.
J S
JS
Schwartzman
D
D
Solé
C K
CK
Naspitz
D001260:Ataxia Telangiectasia / Q000150:complications / Q000235:genetics / Q000276:immunology / Q000473:pathology; D002272:Carcinoembryonic Antigen / Q000032:analysis; D004198:Disease Susceptibility; D004406:Dysgammaglobulinemia / Q000209:etiology; D005260:Female; D006801:Humans; D017098:IgA Deficiency; D007136:Immunoglobulins / Q000032:analysis; D008297:Male; D009369:Neoplasms / Q000209:etiology; D012867:Skin / Q000473:pathology; D000509:alpha-Fetoproteins / Q000032:analysis
D002272:Carcinoembryonic Antigen; D007136:Immunoglobulins; D000509:alpha-Fetoproteins