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XMEN disease caused by the novel MAGT1 p.(Trp136*) mutation may present with neuropsychiatric symptoms

X-linked MAGT1 deficiency with increased susceptibility to EBV-infection and N-linked glycosylation defect (XMEN) disease is caused by MAGT1 loss-of-function (LOF) mutations. The disease commonly presents with respiratory symptoms. Although the central nervous system can be affected, the spectrum of neuropsychiatric symptoms is not completely understood. We describe a XMEN disease family presenting with atypical neuropsychiatric symptoms.