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Pourvali, Ali, Arshi, Saba, Nabavi, Mohammad, Bemanian, Mohammad Hasan, Shokri, Sima, Shahrooei, Mohammad, Rezaei, Nima, Fallahpour, Morteza. (1398). Atypical Omenn Syndrome Due to RAG2 Gene Mutation, a Case Report. سامانه مدیریت نشریات علمی, 16(4), 334-338. doi: 10.22034/iji.2019.80285
Ali Pourvali; Saba Arshi; Mohammad Nabavi; Mohammad Hasan Bemanian; Sima Shokri; Mohammad Shahrooei; Nima Rezaei; Morteza Fallahpour. "Atypical Omenn Syndrome Due to RAG2 Gene Mutation, a Case Report". سامانه مدیریت نشریات علمی, 16, 4, 1398, 334-338. doi: 10.22034/iji.2019.80285
Pourvali, Ali, Arshi, Saba, Nabavi, Mohammad, Bemanian, Mohammad Hasan, Shokri, Sima, Shahrooei, Mohammad, Rezaei, Nima, Fallahpour, Morteza. (1398). 'Atypical Omenn Syndrome Due to RAG2 Gene Mutation, a Case Report', سامانه مدیریت نشریات علمی, 16(4), pp. 334-338. doi: 10.22034/iji.2019.80285
Pourvali, Ali, Arshi, Saba, Nabavi, Mohammad, Bemanian, Mohammad Hasan, Shokri, Sima, Shahrooei, Mohammad, Rezaei, Nima, Fallahpour, Morteza. Atypical Omenn Syndrome Due to RAG2 Gene Mutation, a Case Report. سامانه مدیریت نشریات علمی, 1398; 16(4): 334-338. doi: 10.22034/iji.2019.80285

Atypical Omenn Syndrome Due to RAG2 Gene Mutation, a Case Report

Iranian Journal of Immunology
مقاله 8، دوره 16، شماره 4، اسفند 2019، صفحه 334-338    اصل مقاله (205.58 K)
نوع مقاله: Case Report
شناسه دیجیتال (DOI): 10.22034/iji.2019.80285
نویسندگان
Ali Pourvali1؛ Saba Arshi1؛ Mohammad Nabavi1؛ Mohammad Hasan Bemanian1؛ Sima Shokri1؛ Mohammad Shahrooei2؛ Nima Rezaei3؛ Morteza Fallahpour* 1
1Allergy Department, Rasool e Akram Hospital, Iran University of Medical Sciences, Tehran, Iran
2Clinical and Diagnostic Immunology, Department of Microbiology and Immunology, KU Leuven, Belgium
3Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran
چکیده
Severe Combined Immunodeficiency (SCID), characterized by a profound decrease in both the number and function of T cells, is related to more than 20 different mutations. Recombination-activating gene (RAG) 1 and 2 seem to be two of the most common forms presenting with various manifestations, including typical SCID, Omenn syndrome (OS), atypical SCID (AS), or delayed onset combined immunodeficiency with granulomas. One interesting manifestation in RAG mutation is the change in the immunophenotype over time, even after hematopoietic stem cell transplantation (HSCT). As bone marrow transplantation (BMT) is the only curative treatment of SCID, it is necessary to differentiate between SCID and OS due to the different conditioning regimens (CR). We present a novel case of atypical SCID (SCID manifestations with more than 300 CD3+T cells) caused by RAG 2 gene mutation whose immunophenotype changed to atypical Omenn syndrome (all Omenn syndrome manifestations except rash, eosinophilia, and elevated IgE) over time.Differentiation of leaky SCID, SCID and Omenn syndrome in RAG mutation genes and overlap manifestations is important in treatment plan and prognosis.
کلیدواژه‌ها
Atypical Omen Syndrome؛ Atypical SCID؛ RAG 2 Mutation؛ Severe Combined Immunodeficiency
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