NFKB2, nuclear factor kappa B subunit 2, 4791

N. diseases: 194; N. variants: 12
Disease: Humoral immune defect ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0522274
Disease: Humoral immune defect
Humoral immune defect 		0.020 GeneticVariation group BEFREE Early B cell developmental impairment with progressive B cell deficiency in NFKB2 mutated CVID disease without autoimmunity. 30500415 2019
CUI: C0522274
Disease: Humoral immune defect
Humoral immune defect 		0.020 GeneticVariation group BEFREE We report 3 related individuals with a novel form of severe B-cell deficiency associated with partial persistence of serum immunoglobulin arising from a missense mutation in NFKB2. 25237204 2014