Combined Immunodeficiency
Gene: NFKB2
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, 4:37 a.m. | Last Modified: 5 Aug 2021, 4:37 a.m.
Panel Version: 0.268
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
Gene: nfkb2 has been classified as Green List (High Evidence).
Phenotypes for gene: NFKB2 were changed from to 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 for gene: NFKB2 were set to
Mode of inheritance for gene: NFKB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: NFKB2 was added gene: NFKB2 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: NFKB2 was set to Unknown