Scales of <i>Magt1</i> Gene: Novel Mutations, Different Presentations


Haskologlu S., Baskin K., Aytekin C., Islamoglu C., Ceylaner S., Dogu F., ...More

IRANIAN JOURNAL OF ALLERGY ASTHMA AND IMMUNOLOGY, vol.21, no.1, pp.92-97, 2022 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 21 Issue: 1
  • Publication Date: 2022
  • Doi Number: 10.18502/ijaai.v21i1.8622
  • Journal Name: IRANIAN JOURNAL OF ALLERGY ASTHMA AND IMMUNOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CINAHL, EMBASE, MEDLINE, Directory of Open Access Journals
  • Page Numbers: pp.92-97
  • Keywords: Epstein-barr virus infections, MagT1 protein, EPSTEIN-BARR-VIRUS, XMEN DISEASE, INFECTIOUS-MONONUCLEOSIS, IMMUNODEFICIENCY, IMMUNITY
  • Ankara University Affiliated: Yes

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.