Title of article :
Scales of Magt1 Gene: Novel Mutations, Different Presentations
Author/Authors :
Haskologlu ، Sule Department of Pediatric, Immunology and Allergy and Hematopoietic Stem Cell Transplantation Unit - School of Medicine - Ankara University , Baskin ، Kubra Department of Pediatric, Immunology and Allergy and Hematopoietic Stem Cell Transplantation Unit - School of Medicine - Ankara University , Aytekin ، Caner Pediatric Immunology Clinic - Training and Research Hospital , Islamoglu ، Candan Department of Pediatric, Immunology and Allergy and Hematopoietic Stem Cell Transplantation Unit - School of Medicine - Ankara University , Ceylaner ، Serdar Intergen Genetic Diagnostics Center , Dogu ، Figen Department of Pediatric, Immunology and Allergy and Hematopoietic Stem Cell Transplantation Unit - School of Medicine - Ankara University , Tacyildiz ، Nurdan Department of Pediatric, Hematology and Oncology - School of Medicine - Ankara University , Unal ، Emel Department of Pediatric, Hematology and Oncology - School of Medicine - Ankara University , Ikinciogullari ، Aydan Department of Pediatric, Immunology and Allergy and Hematopoietic Stem Cell Transplantation Unit - School of Medicine - Ankara University
From page :
92
To page :
97
Abstract :
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.
Keywords :
Epstein , barr virus infections , MagT1 protein
Journal title :
Iranian Journal of Allergy, Asthma and Immunology
Journal title :
Iranian Journal of Allergy, Asthma and Immunology
Record number :
2709434
Link To Document :
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