Article
Identification of a novel MAGT1 mutation supports a diagnosis of XMEN disease.
Genes and immunity - 1 Apr 2022
Watson Christopher M, Nadat Fatima, Ahmed Sammiya, Crinnion Laura A, O'Riordan Sean, Carter Clive, Savic Sinisa
Abstract excerpt
XMEN (X-linked immunodeficiency with magnesium defect) is caused by loss-of-function mutations in MAGT1 which is encoded on the X chromosome. The disorder is characterised by CD4 lymphopenia, severe chronic viral infections and defective T-lymphocyte activation. XMEN patients are susceptible to Epstein-Barr virus infections and persistently low levels of intracellular Mg2+. Here we describe a patient that...
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