Article
Cutaneous Granulomatosis and Class Switching Defect as a Presenting Sign in Ataxia-Telangiectasia: First Case from the National Iranian Registry and Review of the Literature.
Immunological investigations - 1 Aug 2020
Amirifar Parisa, Yazdani Reza, Moeini Shad Tannaz, Ghanadan Alireza, Abolhassani Hassan, Lavin Martin, Sotoudeh Soheila, Aghamohammadi Asghar
Abstract excerpt
Ataxia-telangiectasia (A-T) is a rare autosomal recessive syndrome characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency and cancer predisposition, caused by mutations in the ataxia telangiectasia mutated (ATM) gene. The clinical and immunological manifestations of A-T are very heterogeneous, especially at an early age, leading to frequent misdiagnosis. Cutaneous...
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