Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 11-02-2012
Symbol XMEN
Location Xq21.1
Name immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia
Corresponding gene MAGT1
Main clinical features
  • X-linked immunodeficiency characterized by CD4 lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation
  • with an inverted CD4:CD8 ratio and reduced CD31 -positive cells in the naive CD4-positive T-cell population, suggesting diminished thymic output
  • Genetic determination sex linked
    Function/system disorder hematology
    Type disease
    Remark(s)
  • MAGT1 deficiency abrogates the Mg(2+) influx, leading to impaired responses to antigen receptor engagement, including defective activation of phospholipase Cγ1 and a markedly impaired Ca(2+) influx in T cells but not B cells (PMID: 21796205))