Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.560 | Biomarker | disease | BEFREE | The prototypic clinical phenotype of NFKB1-deficient patients includes common CVID features, such as hypogammaglobulinaemia and sinopulmonary infections, plus other highly variable individual manifestations. | 30063981 | 2018 | ||||
|
0.560 | GeneticVariation | disease | BEFREE | We show that heterozygous loss-of-function variants in NFKB1 are the most common known monogenic cause of CVID, which results in a temporally progressive defect in the formation of immunoglobulin-producing B cells. | 29477724 | 2018 | ||||
|
0.560 | Biomarker | disease | BEFREE | Nuclear factor kappa-light-chain-enhancer of activated B cells 1 (NF-κB1)-related human primary immune deficiencies have initially been characterized as defining a subgroup of common variable immunodeficiencies (CVIDs), representing intrinsic B-cell disorders with antibody deficiency and recurrent infections of various kind. | 29403474 | 2017 | ||||
|
0.560 | Biomarker | disease | BEFREE | NFKB1, a component of the canonical NF-κB pathway, was recently reported to be mutated in a limited number of CVID patients. | 27923702 | 2017 | ||||
|
0.560 | GeneticVariation | disease | BEFREE | Recently, haploinsufficiency of NF-κB1 has been described in three families with common variable immunodeficiency (CVID). | 27338827 | 2016 | ||||
|
0.560 | GermlineCausalMutation | disease | ORPHANET | Given that residual p105 and p50—translated from the non-mutated alleles—were normal, and altered p50 proteins were absent, we conclude that the CVID phenotype in these families is caused by NF-κB1 p50 haploinsufficiency. | 26279205 | 2015 | ||||
|
0.560 | Biomarker | disease | BEFREE | Given that residual p105 and p50—translated from the non-mutated alleles—were normal, and altered p50 proteins were absent, we conclude that the CVID phenotype in these families is caused by NF-κB1 p50 haploinsufficiency. | 26279205 | 2015 | ||||
|
0.560 | Biomarker | disease | CTD_human |