What serum proteins are elevated in Ataxia Telangiectasia? What is the mutation? What are the hematologic effects? Other abnormalities?
AFP & CEA; classically two truncated ATM (11q22-23) mutation with t(7;14) in 10%, causing loss of ATM protein kinase activity, which protects from degeneration; variable immunodeficiency of T and B-cells with ↓IgA and ↓T-cells, and no response to live or attenuated vaccines, thymic hypoplasia, greater tendency to hematolymphoid neoplasms; cerebellar ataxia, oculocutaneous telangiectasia, recurrent sinopulm infxns, malignancies