Predominantly Antibody Deficiency
Gene: NFKB2

NFKB2 (nuclear factor kappa B subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000077150
EnsemblGeneIds (GRCh37): ENSG00000077150
OMIM: 164012, Gene2Phenotype
NFKB2 is in 6 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

12 individuals from 8 unrelated families with immunodeficiency reported NFKB2 variants; two mouse models Variants reported were heterozygous truncating variants (missense, nonsense, deletions); 2x were de novo All patients had childhood-onset recurrent infections associated with hypogammaglobulinaemia and decreased numbers of B-cell memory switched lymphocytes.
Created: 5 Aug 2021, 9:08 a.m. | Last Modified: 5 Aug 2021, 9:08 a.m.

Panel Version: 0.71

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Immunodeficiency, common variable, 10 MIM# 615577; Low serum IgG, IgA, IgM; low B cell numbers; low switched memory B cells; Recurrent sinopulmonary infections, Alopecia; endocrinopathies; ACTH deficiency

Publications

Created: 5 Aug 2021, 9:08 a.m.
Last Modified: 5 Aug 2021, 9:08 a.m.
Panel version: 0.71

Danielle Ariti (University of Melbourne)

Green List (high evidence)

12 individuals from 8 unrelated families with immunodeficiency reported NFKB2 variants; two mouse models.

Variants reported were heterozygous truncating variants (missense, nonsense, deletions); 2x were de novo.

All patients had childhood-onset recurrent infections associated with hypogammaglobulinaemia and decreased numbers of B-cell memory switched lymphocytes.
Created: 5 Aug 2021, 6:12 a.m. | Last Modified: 5 Aug 2021, 6:12 a.m.

Panel Version: 0.8638

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Created: 5 Aug 2021, 6:12 a.m.
Last Modified: 5 Aug 2021, 6:12 a.m.
Panel version: Imported from Mendeliome panel version 0.8638

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: On the IUIS CVID phenotype gene list for human inborn errors of immunity (PMID: 32048120).
Created: 21 Jul 2020, 2:37 a.m. | Last Modified: 21 Jul 2020, 2:37 a.m.

Panel Version: 0.56

Created: 21 Jul 2020, 2:37 a.m.
Last Modified: 21 Jul 2020, 2:37 a.m.
Panel version: Imported from Common Variable Immunodeficiency panel version 0.56

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, 10 MIM# 615577
Low serum IgG, IgA, IgM
low B cell numbers
low switched memory B cells
Recurrent sinopulmonary infections, Alopecia
endocrinopathies
ACTH deficiency

OMIM

164012

Clinvar variants

Variants in NFKB2

Penetrance

None

Publications

Panels with this gene