NFKBIA

NFKB inhibitor alpha
OMIM: 164008
PanelMode of inheritanceDetails
2 panels
R-numbers: R163
Signed-off version 1.10
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency 612132
R-numbers: R15
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency 612132, Defects of TLR/NFkappa-B signalling, Anhidrotic ectodermal dysplasia, various infections (bacteria, mycobacteria, viruses and fungi), colitis, variable defects of skin, hair and teeth, T cell and monocyte dysfunction, Combined immunodeficiencies with associated or syndromic features