Open AccessScales of Magt1 Gene: Novel Mutations, Different Presentations
Author(s) -
Şule Haskoloğlu,
Kübra Baskın,
Caner Aytekin,
Candan İslamoğlu,
Serdar Ceylaner,
Figen Doğu,
Nurdan Taçyıldız,
Emel Özkan Ünal,
Aydan İkincioğulları
Publication year - 2022
Publication title -
iranian journal of allergy, asthma and immunology
Language(s) - English
Resource type - Journals
eISSN - 1735-5249
pISSN - 1735-1502
DOI - 10.18502/ijaai.v21i1.8622
Subject(s) - hypogammaglobulinemia , immunology , immune dysregulation , disease , medicine , lymphoproliferative disorders , lymphoma , immune system , antibody
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.