Scales of Magt1 Gene: Novel Mutations, Different Presentations
| Title: | Scales of Magt1 Gene: Novel Mutations, Different Presentations |
|---|---|
| Authors: | Sule Haskologlu, Kubra Baskin, Caner Aytekin, Candan Islamoglu, Serdar Ceylaner, Figen Dogu, Nurdan Tacyildiz, Emel Unal, Aydan Ikinciogullari |
| Source: | Iranian Journal of Allergy, Asthma and Immunology, Vol 21, Iss 1 (2022) |
| Publisher Information: | Tehran University of Medical Sciences, 2022. |
| Publication Year: | 2022 |
| Collection: | LCC:Medicine |
| Subject Terms: | Epstein-barr virus infections, MagT1 protein, Medicine |
| More Details: | 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. |
| Document Type: | article |
| File Description: | electronic resource |
| Language: | English |
| ISSN: | 1735-1502 1735-5249 |
| Relation: | https://ijaai.tums.ac.ir/index.php/ijaai/article/view/3111; https://doaj.org/toc/1735-1502; https://doaj.org/toc/1735-5249 |
| DOI: | 10.18502/ijaai.v21i1.8622 |
| Access URL: | https://doaj.org/article/e5bce7290bbf4c9b94e46f226d7403e6 |
| Accession Number: | edsdoj.5bce7290bbf4c9b94e46f226d7403e6 |
| Database: | Directory of Open Access Journals |
| ISSN: | 17351502 17355249 |
|---|---|
| DOI: | 10.18502/ijaai.v21i1.8622 |
| Published in: | Iranian Journal of Allergy, Asthma and Immunology |
| Language: | English |