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. (17th August 2020)

• Record Type: Journal Article
• Authors: Amirifar, Parisa; Yazdani, Reza; Moeini Shad, Tannaz; Ghanadan, Alireza; Abolhassani, Hassan; Lavin, Martin; Sotoudeh, Soheila; Aghamohammadi, Asghar
• Is Part Of: Immunological investigations. Volume 49:Number 6(2020)
• Page Start: 597
• Page End: 610
• Publication Date: 2020-08-17
• Subjects: Primary immunodeficiency -- Ataxia-Telangiectasia (A-T) -- cutaneous granulomatosis -- class switching defect (CSD) -- ATM gene; Immunology -- Periodicals; Immunochemistry -- Periodicals; Cellular immunity -- Periodicals; Communicable diseases -- Periodicals; 616.079
• DOI: 10.1080/08820139.2019.1692864
• Languages: English
• ISSNs: 0882-0139

Abstract

ABSTRACT: 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 granulomas with unknown pathogenesis occur uncommonly in a minority of A-T patients. We herein report an unusual case of a 13-year-old girl with A-T who presented severe clinical manifestations, including multiple granulomatous lesions of the skin and a class switch defect phenotype. This patient is the first Iranian A-T case with cutaneous granulomatosis and immunodeficiency. In addition, the literature on skin granulomas in all previously reported A-T patients is reviewed indicating an increased frequency of elevated IgM level and female dominancy in this selected group of patients.