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Article

Scales of Magt1 Gene: Novel Mutations, Different Presentations.

Iranian journal of allergy, asthma, and immunology - 6 Feb 2022

Haskologlu Sule, Baskin Kubra, Aytekin Caner, Islamoglu Candan, Ceylaner Serdar, Dogu Figen, Tacyildiz Nurdan, Unal Emel, Ikinciogullari Aydan

Abstract excerpt

Loss-of-function mutations in magnesium transporter 1 (MAGT1) gene cause X-linked magnesium deficiency with Epstein-Barr virus (EBV) infection and neoplasm (X-MEN), a disease with quite diverse clinical and immunological consequences. The phenotypic characteristics of the initially described patients included CD4+ T cell lymphopenia, immune deficiency, EBV viremia, and EBV-related lymphoproliferative disease. To...

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PMID: 35524383
DOI: 10.18502/ijaai.v21i1.8622

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Scales of Magt1 Gene: Novel Mutations, Different Presentations.PMID 35524383Read ↗

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

An Update on XMEN Disease.Semantic proximity Read ↗

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

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

Modifier-Sensitive Phenotypic Divergence in XMEN Disease (MAGT1 Deficiency): Neurodegenerative and Hematologic TrajectoriesSemantic proximity Read ↗

MAGT1 gene mutation causes myositis and CD127 expression downregulationSemantic proximity Read ↗

Lymphoma arising in the setting of inborn errors of immunity: A six-case series of XMEN-associated pediatric lymphomaSemantic proximity Read ↗

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

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

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