Combined B and T cell defect
Gene: MAGT1Comment on publications: moved review of publications into a review, keeping just the PMIDCreated: 29 Mar 2018, 11:42 a.m.
Transfer of reviews on publications that were in the publications section. Review made by Ellen McDonagh (Genomics England Curator), 3 Jun 2016.
PMID: 21796205 - two young brothers with a 10bp deletion not present in the mother's cDNA or 100 normal individuals, present in the grandmother and great-grandmother of the patients. MAGT1 protein was undetectable in the patient's cells, screening of a third unrelated patient identified a nonsense mutation in exon 3
23846901
27095930 (2 patients with T-B+NK+ combined immunodeficiency)
PMID: 25956530 case study of a 17 year old boy with severe autoimmune disorders and Hodgkin lymphoma mimicking autoimmune lymphoproliferative syndrome with a hemizygous c.555dup variant
PMID: 25504528 case of a 58-year old Caucasian male and his nephew, identified novel variant c.712C > T, p.R238X (though unclear whether other unaffected family members had this variant)
PMID: 25205404 clinical utility gene card describes 7 patients
PMID: 24550228 - define XMEN disease, characterised by loss-of-function mutations in MAGT1. PMID: 23871722 association with X-linked intellectual disability is questioned
PMID: 21983175 functional studyCreated: 29 Mar 2018, 11:38 a.m.
Comment on list classification: Added by an expert reviewer, with a second green review. Multiple cases reported for association with XMEN syndrome/disease.Created: 3 Jun 2016, 2:47 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Chronic active EBV, lymphoproliferation, combined immunodeficiency, impaired t cell function
Publications
Publications for MAGT1 were set to 21796205; 23846901; 27095930; 25956530; 25504528; 25205404; 24550228; 23871722; 21983175
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for MAGT1 were set to PMID: 21796205 - two young brothers with a 10bp deletion not present in the mother's cDNA or 100 normal individuals, present in the grandmother and great-grandmother of the patients. MAGT1 protein was undetectable in the patient's cells, screening of a third unrelated patient identified a nonsense mutation in exon 3; 23846901; 27095930 (2 patients with T-B+NK+ combined immunodeficiency); PMID: 25956530 case study of a 17 year old boy with severe autoimmune disorders and Hodgkin lymphoma mimicking autoimmune lymphoproliferative syndrome with a hemizygous c.555dup variant; PMID: 25504528 case of a 58-year old Caucasian male and his nephew, identified novel variant c.712C > T, p.R238X (though unclear whether other unaffected family members had this variant); PMID: 25205404 clinical utility gene card describes 7 patients; PMID: 24550228 - define XMEN disease, characterised by loss-of-function mutations in MAGT1. PMID: 23871722 association with X-linked intellectual disability is questioned; PMID: 21983175 functional study;
Publications for MAGT1 were set to PMID: 21796205 - ; 23846901; 27095930 (2 patients with T-B+NK+ combined immunodeficiency); PMID: 25956530 case study of a 17 year old boy with severe autoimmune disorders and Hodgkin lymphoma mimicking autoimmune lymphoproliferative syndrome with a hemizygous c.555dup variant; PMID: 25504528 case of a 58-year old Caucasian male and his nephew, identified novel variant c.712C > T, p.R238X (though unclear whether other unaffected family members had this variant); PMID: 25205404 clinical utility gene card describes 7 patients; PMID: 24550228 - define XMEN disease, characterised by loss-of-function mutations in MAGT1. PMID: 23871722 association with X-linked intellectual disability is questioned; PMID: 21983175 functional study;
Publications for MAGT1 were set to 21796205; 23846901; 27095930 (2 patients with T-B+NK+ combined immunodeficiency); PMID: 25956530 case study of a 17 year old boy with severe autoimmune disorders and Hodgkin lymphoma mimicking autoimmune lymphoproliferative syndrome with a hemizygous c.555dup variant; PMID: 25504528 case of a 58-year old Caucasian male and his nephew, identified novel variant c.712C > T, p.R238X (though unclear whether other unaffected family members had this variant); PMID: 25205404 clinical utility gene card describes 7 patients.
Publications for MAGT1 were set to 21796205; 23846901; 27095930 (2 patients with T-B+NK+ combined immunodeficiency); PMID: 25956530 case study of a 17 year old boy with severe autoimmune disorders and Hodgkin lymphoma mimicking autoimmune lymphoproliferative syndrome with a hemizygous c.555dup variant; PMID: 25504528 case of a 58-year old Caucasian male and his nephew, identified novel variant c.712C > T, p.R238X.
Publications for MAGT1 were set to 21796205; 23846901; 27095930 (2 patients with T-B+NK+ combined immunodeficiency); 25956530 case study of a 17 year old boy with severe autoimmune disorders and Hodgkin lymphoma mimickin autoimmune lymphoproliferative syndrome.
Phenotypes for MAGT1 were set to Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia; Chronic active EBV, lymphoproliferation, combined immunodeficiency, impaired t cell function; XMEN syndrome; Chronic active EBV, lymphoproliferation, combined immunodeficiency, impaired t cell function
Publications for MAGT1 were set to 21796205; 23846901; 27095930 (2 patients with T-B+NK+ combined immunodeficiency).
Publications for MAGT1 were set to 21796205; 23846901; 27095930
Phenotypes for MAGT1 were set to Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia; Chronic active EBV, lymphoproliferation, combined immunodeficiency, impaired t cell function
Publications for MAGT1 were set to 21796205; 23846901
MAGT1 was added to Combined B and T cell defectpanel. Sources: Literature,Expert list,Expert Review