Ataxia telangiectasia.
Ataxia telangiectasia has been described as a single-gene autosomal recessive disorder. It affects multiple systems. Several attempts to present an etiological hypothesis that will account for the multisystem involvement have been made. Those reviewed haer are (1) aberration of inductive signaling, which is predicted on a deficient mesoderm, leading to vascular and thus multiorgan effects (a critical timing of events is a basic assumption); (2) developmental imbalance, based on multisystem supression of embryological development; (3) the autoimmune hypothesis, which requires the presence of a cell surface antigen on thymic and nerve cells analogous to the thy 1.1 antigen of mouse and rat. The development of cytotoxic autoantibody to this antigen is postulated as an explanation of the pathogenesis.
D001260:Ataxia Telangiectasia / Q000196:embryology / Q000209:etiology*; D001327:Autoimmune Diseases; D006801:Humans; D008648:Mesoderm