Cutaneous granulomatosis and combined immunodeficiency revealing Ataxia-Telangiectasia: a case report

Abstract

Ataxia-telangiectasia (A-T) is a complex multisystem disorder characterized by progressive neurological impairment, variable immunodeficiency and oculo-cutaneous telangiectasia. A-T is a member of chromosomal breakage syndromes and it is caused by a mutation in the ataxia-telangiectasia mutated (ATM) gene. Because of a wide clinical heterogeneity, A-T is… (More)
DOI: 10.1186/1824-7288-36-29

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