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Iranian Journal of Allergy, Asthma and Immunology، جلد ۲۱، شماره ۱، صفحات ۹۲-۹۷
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عنوان انگلیسی Scales of Magt1 Gene: Novel Mutations, Different Presentations
چکیده انگلیسی مقاله Loss-of-function mutations in magnesium transporter 1 (MAGT1) gene cause X-linked magnesium deficiency with Epstein–Barr virus (EBV) infection and neoplasm (X-MEN), a disease with quite diverse clinical and immunological consequences. The phenotypic characteristics of the initially described patients included CD4+ T cell lymphopenia, immune deficiency, EBV viremia, and EBV-related lymphoproliferative disease. To date, a total of 25 patients have been reported. The spectrum of the MAGT1 defect ranges from other viral infections (HSV, VZV, CMV, MCV) and sinopulmonary bacterial infections, autoimmune diseases, non-EBV driven lymphoproliferative disease, Castleman disease, HHV8+ Kaposi's sarcoma, vasculitis (Kawasaki) to glycosylation defects in new patients. Here, we report 2 patients from two different families with novel MAGT1 mutations and different clinical features. The first patient presented with B cell lymphoma and low IgM level without recurrent infections. The second patient presented with recurrent upper respiratory tract infections, Kawasaki-like disease, hypogammaglobulinemia, and T cell lymphopenia. X-MEN disease is the first phenotype identified due to MAGT1 mutation. The identification of new mutations and atypical presentations will clarify whether there is a relationship between the genotype and the phenotype and the characteristics of the disease.
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نویسندگان مقاله | Sule Haskologlu
Department of Pediatric, Immunology and Allergy and Hematopoietic Stem Cell Transplantation Unit, School of Medicine, Ankara University, Ankara, Turkey


| Kubra Baskin
Department of Pediatric, Immunology and Allergy and Hematopoietic Stem Cell Transplantation Unit, School of Medicine, Ankara University, Ankara, Turkey


| Caner Aytekin
Pediatric Immunology Clinic, Dr. Sami Ulus Obstetrics and Gynecology and Pediatric Health and Diseases, Training and Research Hospital, Ankara, Turkey


| Candan Islamoglu
Department of Pediatric, Immunology and Allergy and Hematopoietic Stem Cell Transplantation Unit, School of Medicine, Ankara University, Ankara, Turkey


| Serdar Ceylaner
Intergen Genetic Diagnostics Center, Ankara, Turkey


| Figen Dogu
Department of Pediatric, Immunology and Allergy and Hematopoietic Stem Cell Transplantation Unit, School of Medicine, Ankara University, Ankara, Turkey


| Nurdan Tacyildiz
Department of Pediatric, Hematology and Oncology, School of Medicine, Ankara University, Ankara, Turkey


| Emel Unal
Department of Pediatric, Hematology and Oncology, School of Medicine, Ankara University, Ankara, Turkey


| Aydan Ikinciogullari
Department of Pediatric, Immunology and Allergy and Hematopoietic Stem Cell Transplantation Unit, School of Medicine, Ankara University, Ankara, Turkey
نشانی اینترنتی https://ijaai.tums.ac.ir/index.php/ijaai/article/view/3111
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