Case Report

Misclassification of Ataxia Telangiectasia with Hyper IgM Immune Profile

Abstract

Ataxia-telangiectasia is a rare primary immunodeficiency and multisystem DNA repair disorder which is caused by mutation in ataxia telangiectasia mutated (ATM) gene. The ATM protein plays a critical role in sensing DNA double-strand breaks (DSB), oxidative stress and other genetic stresses. The ATM can directly mention DNA ends in repair complexes and directly involved in the repair of DSBs induced during T cell and B cell rearrangement. Therefore, increase serum IgM level and recurrent infection mainly sinopulmonary, indistinguishable from hyper IgM syndrome can be a presentation of some AT patients. AT patients with class-switched defect are more prone to severe infections, autoimmunity and lymphoproliferative disorders. Herein we present an AT patient with characteristic feature of hyper IgM phenotype and lymphoproliferation is investigated.

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IssueVol 2, No 3 (2019) QRcode
SectionCase Report
DOI https://doi.org/10.22034/igj.2019.200052.1022
Keywords
Ataxia telangiectasia Class Switch Recombination Hyper IgM Syndrome lymphoproliferation
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Creative Commons License This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
How to Cite
1.
Razaghian A, Ziaee V, Momen T, Shariat M. Misclassification of Ataxia Telangiectasia with Hyper IgM Immune Profile. Immunol Genet J. 2019;2(3):147-152.