Article

MAGT1 gene mutation causes myositis and CD127 expression downregulation

2021-04-19

Abstract excerpt

<title>Abstract</title> <p>X-linked immunodeficiency with Magnesium defect, Epstein-Barr virus infection, and Neoplasia (XMEN) is a primary immune deficiency caused by mutations in MAGT1 and is characterized by chronic infection with Epstein-Barr virus (EBV), CD4 lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation. Herein, we described an XMEN patient carrying a MAGT1 p.Arg331* mut...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 738784c9-1afc-5509-803d-2f2554d977bf
DOI: 10.21203/rs.3.rs-421324/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

MAGT1 gene mutation causes myositis and CD127 expression downregulationDOI 10.21203/rs.3.rs-421324/v1Read

X-linked immunodeficiency with magnesium defect, Epstein–Barr virus infection, and neoplasia diseaseSemantic proximity Read

Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN diseaseSemantic proximity Read

Identification of a novel MAGT1 mutation supports a diagnosis of XMEN disease.Semantic proximity Read

Scales of Magt1 Gene: Novel Mutations, Different Presentations.Semantic proximity Read

Identification of a novel mutation in MAGT1 and progressive multifocal leucoencephalopathy in a 58-year-old man with XMEN disease.Semantic proximity Read

An Update on XMEN Disease.Semantic proximity Read

[X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia: report of a family and literature review].Semantic proximity Read

XMEN-associated Systemic EBV-positive T-cell Lymphoma of Childhood: Report of Two Cases and Literature Review.Semantic proximity Read

Magnesium transporter 1 (MAGT1) deficiency causes selective defects in N-linked glycosylation and expression of immune-response genesSemantic proximity Read

Large Deletion of MAGT1 Gene in a Patient with Classic Kaposi Sarcoma, CD4 Lymphopenia, and EBV InfectionSemantic proximity Read

Genomics of Immune Diseases and New Therapies.Semantic proximity Read

Case Report: A successful case of allogeneic stem cell transplantation for pediatric XMEN characterized by neutropenia.Semantic proximity Read