Combined Immunodeficiency
Gene: MAGT1
36 unrelated males have been reported with over 20 unique variants in MAGT1 resulting in XMEN phenotype; Multiple mouse models.
Hemizygous (deletion, duplication and nonsense) variants have been reported resulting in frameshift and/or premature termination.
Recurrent respiratory and IG infections (splenomegaly), high level of EBV, increased susceptibility for developing EBV-positive lymphomas and dysgammaglobulinaemia.Created: 19 Aug 2021, 6:02 a.m. | Last Modified: 19 Aug 2021, 6:02 a.m.
Panel Version: 0.355
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia MIM# 300853; XMEN; Low CD4; inverted CD4/CD8 ratio; reduced MAIT cells; poor proliferation to CD3; decreased memory B cells; progressive hypogammaglobulinaemia; reduced NK cell; EBV infection; lymphoma; viral infections; respiratory and GI infections; Glycosylation defects
Publications
Gene: magt1 has been classified as Green List (High Evidence).
Phenotypes for gene: MAGT1 were changed from to Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia MIM# 300853; XMEN; Low CD4; inverted CD4/CD8 ratio; reduced MAIT cells; poor proliferation to CD3; decreased memory B cells; progressive hypogammaglobulinaemia; reduced NK cell; EBV infection; lymphoma; viral infections; respiratory and GI infections; Glycosylation defects
Publications for gene: MAGT1 were set to
Mode of inheritance for gene: MAGT1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
gene: MAGT1 was added gene: MAGT1 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: MAGT1 was set to Unknown