Table 1.
List of primary immunodeficiency diseases associated with impaired NF-κB signaling including genetic defect and clinical aspects.
| DISEASE | AFFECTED CELL | ASSOCIATED FEATURES | GENETIC DEFECT | OMIM NUMBER |
|---|---|---|---|---|
| AD-EDA-ID, autosomal dominant. | Lymphocytes, monocytes. | Anhidrotic ectodermal dysplasia, T cell defect, various infections. | Mutation of NFKBIA gene encoding IκBα, an inhibitor of NF-κB. | 612132 |
| XL-EDA-ID, X-linked. | Lymphocytes, monocytes. | Anhidrotic ectodermal dysplasia, specific antibody deficiency (lack of Ab response to polysaccharides), mycobacteria and pyogenes infections. | Mutation of NEMO gene encoding IKKγ, the regulatory subunit of IKK complex. | 300291 |
| IKK2 deficiency, autosomal recessive. | Lymphocytes, monocytes. | Recurrent bacterial, viral, and fungal infections. | Mutation of IKBKB gene encoding IKK2, a catalytic subunit of IKK complex. | 615592 |
| IRAK4 deficiency, autosomal recessive. | Lymphocytes, granulocytes, monocytes. | Bacterial infections (pyogenes). | Mutation of IRAK4 gene encoding a component of TLR-and IL-1R-signaling pathway. | 607676 |
| MyD88 deficiency, autosomal recessive. | Lymphocytes, granulocytes, monocytes. | Bacterial infections (pyogenes). | Mutation of MYD88 encoding a component of the TLR and IL-1R. | 612260 |
| TRIF deficiency, autosomal recessive and autosomal dominant. | CNS resident cells and fibroblasts. | Herpes simplex virus 1 encephalitis. | Mutations of TRIF gene encoding an adaptor for TLR3 (Toll-like receptor 3)-and TLR4-mediated signalling. | 614850 |
| TRAF3 deficiency, autosomal dominant. | CNS resident cells and fibroblasts. | Herpes simplex virus 1 encephalitis. | Mutation of TRAF3 encoding a member of the TNF receptor associated factor (TRAF) protein family. | 614849 |
| HOIL1 deficiency, autosomal recessive. | Lymphocytes, granulocytes, monocytes, fibroblasts. | Bacterial infections (pyogenes). | Mutation of HOIL1 gene encoding a component of LUBAC. | 610924 |
| NFKB2 deficiency, autosomal dominant | Lymphocytes. | Recurrent infections, hypogammaglobulinemia and decreased numbers of B cells, switched memory B cells, and NK cells. | Mutations in NFKB2 gene, an essential component of the non-canonical NF-κB pathway. | 615577 |