Misclassification of Ataxia Telangiectasia with Hyper IgM Immune Profile

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Razaghian Anahita; ZIAEE VAHID; MOMEN TOOBA; Shariat Mansoureh

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Journal Paper

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Journal: Immunology and Genetics Journal Year:2019 | Volume:2 | Issue:3 Page(s): 53-57

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Title

Misclassification of Ataxia Telangiectasia with Hyper IgM Immune Profile

Author(s)

Razaghian Anahita | ZIAEE VAHID | MOMEN TOOBA | Shariat Mansoureh | Issue Writer Certificate

Keywords

Ataxia telangiectasia

Class switch recombination

Hyper IgM syndrome

Lymphoproliferation

Abstract

Ataxia-telangiectasia is a rare primary immunodeficiency and multisystem DNA repair disorder, resulting from mutation in Ataxia telangiectasia mutated (ATM) gene. The ATM protein plays a significant role in detecting DNA double-strand breaks (DSB), oxidative stress and other genetic stresses. The ATM can directly mention DNA ends in repair complexes and directly involve in the repairment of DSBs that are induced during T cell and B cell rearrangement. Therefore, increase in the level of serum IgM and mainly sinopulmonary recurrent infection, which is indistinguishable from Hyper IgM syndrome, can be a symptom of some AT patients. AT patients with class-switched defect are more prone to severe infections, autoimmunity, and lymphoproliferative disorders. In this study an AT patient with characteristic features of hyper IgM phenotype and Lymphoproliferation is investigated.

Cites

Clinical Manifestations in Iranian Ataxia Telangiectasia Patients

References

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APA: Copy

Razaghian, Anahita, ZIAEE, VAHID, MOMEN, TOOBA, & Shariat, Mansoureh. (2019). Misclassification of Ataxia Telangiectasia with Hyper IgM Immune Profile. IMMUNOLOGY AND GENETICS JOURNA, 2(3), 53-57. SID. https://sid.ir/paper/754009/en

Vancouver: Copy

Razaghian Anahita, ZIAEE VAHID, MOMEN TOOBA, Shariat Mansoureh. Misclassification of Ataxia Telangiectasia with Hyper IgM Immune Profile. IMMUNOLOGY AND GENETICS JOURNA[Internet]. 2019;2(3):53-57. Available from: https://sid.ir/paper/754009/en

IEEE: Copy

Anahita Razaghian, VAHID ZIAEE, TOOBA MOMEN, and Mansoureh Shariat, “Misclassification of Ataxia Telangiectasia with Hyper IgM Immune Profile,” IMMUNOLOGY AND GENETICS JOURNA, vol. 2, no. 3, pp. 53–57, 2019, [Online]. Available: https://sid.ir/paper/754009/en

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