این سایت در حال حاضر پشتیبانی نمی شود و امکان دارد داده های نشریات بروز نباشند
Iranian Journal of Immunology، جلد ۱۶، شماره ۴، صفحات ۳۳۴-۳۳۸
عنوان فارسی
چکیده فارسی مقاله
کلیدواژه‌های فارسی مقاله
عنوان انگلیسی Atypical Omenn Syndrome Due to RAG2 Gene Mutation, a Case Report
چکیده انگلیسی مقاله 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.
کلیدواژه‌های انگلیسی مقاله
نویسندگان مقاله Ali Pourvali |
Allergy Department, Rasool e Akram Hospital, Iran University of Medical Sciences, Tehran, Iran

Saba Arshi |
Allergy Department, Rasool e Akram Hospital, Iran University of Medical Sciences, Tehran, Iran

Mohammad Nabavi |
Allergy Department, Rasool e Akram Hospital, Iran University of Medical Sciences, Tehran, Iran

Mohamad Hasan Bemanian |
Allergy Department, Rasool e Akram Hospital, Iran University of Medical Sciences, Tehran, Iran

Sima Shokri |
Allergy Department, Rasool e Akram Hospital, Iran University of Medical Sciences, Tehran, Iran

Mohammad Shahrooei |
Clinical and Diagnostic Immunology, Department of Microbiology and Immunology, KU Leuven, Belgium

Nima Rezaei |
Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran

Morteza Fallahpour |
Allergy Department, Rasool e Akram Hospital, Iran University of Medical Sciences, Tehran, Iran

نشانی اینترنتی http://iji.sums.ac.ir/article_45976_cd9fbb53d5ec8d5201f64c3b90cc0b46.pdf
فایل مقاله اشکال در دسترسی به فایل - ./files/site1/rds_journals/172/article-172-2175891.pdf
کد مقاله (doi)
زبان مقاله منتشر شده en
موضوعات مقاله منتشر شده
نوع مقاله منتشر شده
برگشت به: صفحه اول پایگاه   |   نسخه مرتبط   |   نشریه مرتبط   |   فهرست نشریات