" /> Ataxia-telangiectasia - CISMeF





Preferred Label : Ataxia-telangiectasia;

Symbol : AT;

CISMeF acronym : ATA; ATC; ATD; ATE; AT; AT1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Louis-bar syndrome; AT1;

Included titles and symbols : At, complementation group a; At, complementation group e; At, complementation group D; At, Complementation group C; Ataxia-telangiectasia variant; ATA; ATC; ATD; ATE;

Description : Ataxia-telangiectasia (AT) is an autosomal recessive disorder characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy. Chromosomal breakage is a feature. AT cells are abnormally sensitive to killing by ionizing radiation (IR), and abnormally resistant to inhibition of DNA synthesis by ionizing radiation. The latter trait has been used to identify complementation groups for the classic form of the disease (Jaspers et al., 1988). At least 4 of these (A, C, D, and E) map to chromosome 11q23 (Sanal et al., 1990) and are associated with mutations in the ATM gene.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ataxia-telangiectasia mutated gene (ATM, 607585.0001);

Neoplasia : Non-Hodgkin lymphoma; Leukemia; Hodgkin lymphoma; Increased risk in heterozygotes;

Laboratory abnormalities : Increased levels of alpha fetoprotein; Increased levels of carcinoembryonic antigen; CD4 /CD8 ratio is reversed; Monomeric IgM; Reduced IgA levels; Reduced IgG levels, particularly the IgG2 subclass; Immunoglobulin antibodies present; Reduced IgE levels;

Prefixed ID : #208900;

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27/07/2025


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