Combined Immunodeficiency
Gene: NFKB1

NFKB1 (nuclear factor kappa B subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000109320
EnsemblGeneIds (GRCh37): ENSG00000109320
OMIM: 164011, Gene2Phenotype
NFKB1 is in 5 panels

1 review

Danielle Ariti (University of Melbourne)

Green List (high evidence)

Well-established gene-disease association; multiple mouse models.

PMID: 32278790 (2020): More than 56 NFKB1 variants in 157 individuals (68 unrelated families) have been reported as pathogenic with primary immunodeficiency features.

Identified variants consist of missense, nonsense, frameshift, and splice site.

Typical phenotype includes hypogammaglobulinaemia, reduced switched memory B cells, and recurrent respiratory and gastrointestinal infections
Created: 5 Aug 2021, 2:38 a.m. | Last Modified: 5 Aug 2021, 2:38 a.m.

Panel Version: 0.268

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Immunodeficiency, common variable, 12 MIM# 616576; Normal-low IgG, IgA, IgM; low-normal B cells; low switched memory B cells; hypogammaglobulinaemia; recurrent respiratory and gastrointestinal infections; Chronic obstructive pulmonary disease COPD; EBV proliferation; autoimmunity; alopecia

Publications

Created: 5 Aug 2021, 2:38 a.m.
Last Modified: 5 Aug 2021, 2:38 a.m.
Panel version: 0.268

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services

Phenotypes

Immunodeficiency, common variable, 12 MIM# 616576
Normal-low IgG, IgA, IgM
low-normal B cells
low switched memory B cells
hypogammaglobulinaemia
recurrent respiratory and gastrointestinal infections
Chronic obstructive pulmonary disease COPD
EBV proliferation
autoimmunity
alopecia

OMIM

164011

Clinvar variants

Variants in NFKB1

Penetrance

None

Publications

Panels with this gene