Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.780 | GeneticVariation | disease | BEFREE | We report the case of a family (mother and her two sons) diagnosed with common variable immunodeficiency 10 due to a mutation in the NFKB2 gene. | 31468084 | 2019 | ||||
|
0.780 | GeneticVariation | disease | BEFREE | Early B cell developmental impairment with progressive B cell deficiency in NFKB2 mutated CVID disease without autoimmunity. | 30500415 | 2019 | ||||
|
0.780 | GeneticVariation | disease | BEFREE | Fatal Enteroviral Encephalitis in a Patient with Common Variable Immunodeficiency Harbouring a Novel Mutation in NFKB2. | 30927119 | 2019 | ||||
|
0.780 | GeneticVariation | disease | BEFREE | In conclusion, pathogenic stop variants in the ARD of NFKB2 can cause 'infection-only' CVID with an abnormal B-cell phenotype and a variable clinical penetrance. | 30953794 | 2019 | ||||
|
0.780 | GeneticVariation | disease | BEFREE | Subsequent whole exome sequencing studies have revealed germline heterozygous C-terminal mutations of NFKB2 as a cause of DAVID syndrome or of CVID without clinical hypopituitarism. | 28472507 | 2017 | ||||
|
0.780 | GeneticVariation | disease | BEFREE | NFKB2 mutation in common variable immunodeficiency and isolated adrenocorticotropic hormone deficiency: A case report and review of literature. | 27749582 | 2016 | ||||
|
0.780 | GeneticVariation | disease | BEFREE | Using flow cytometry, we further demonstrated that there was a reduction in B cells (CD19+), switched memory B cells (CD27+IgD-) and T follicular helper (Tfh) cells (both CD4+CXCR5+ and CD4+CXCR5Hi) in a CVID patient with NFKB2/p100Δ19, compared to healthy controls. | 24888602 | 2014 | ||||
|
0.780 | Biomarker | disease | BEFREE | In addition, Nfkb2 mouse models demonstrate a CVID-like phenotype with hypogammaglobulinemia and poor humoral response to antigens. | 24140114 | 2013 |