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

Abstract excerpt

BACKGROUND: 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. CASES: We describe a XMEN disease family...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Genetic Diseases, X-Linked
• Share to Glycosylation and Glycoproteins Research