@article { author = {Razaghian, Anahita and Ziaee, Vahid and Momen, Tooba and Shariat, Mansoureh}, title = {Misclassification of Ataxia Telangiectasia with Hyper IgM immune profile}, journal = {Immunology and Genetics Journal}, volume = {2}, number = {3}, pages = {147-152}, year = {2019}, publisher = {Research Center For Immunodeficiencies}, issn = {2645-4831}, eissn = {2645-4831}, doi = {10.22034/igj.2019.200052.1022}, 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.}, keywords = {Ataxia telangiectasia,Class Switch Recombination,Hyper IgM Syndrome,lymphoproliferation}, url = {http://www.igjournal.ir/article_93487.html}, eprint = {http://www.igjournal.ir/article_93487_0b4a0d9f424829f4a804350bc12b5c0a.pdf} }