Features include always present findings: Decreased circulating immunoglobulin concentration, Chronic oral candidiasis, and Recurrent infections; and common findings: Agammaglobulinemia, Increased total monocyte count, Decreased mitogen-induced T-cell proliferation, and Failure to thrive and others. 10 total HPO annotations.

IKBKB encodes inhibitor of nuclear factor kappa B kinase subunit beta (756 aa). Serine kinase that plays an essential role in the NF-kappa-B signaling pathway which is activated by multiple stimuli such as inflammatory cytokines, bacterial or viral products, DNA damages or other cellular stresses. Highest expression in Spleen (67.2 TPM) and Fallopian Tube (52.0 TPM).

Severe combined immunodeficiency due to IKK2 deficiency is caused by mutations in the IKBKB gene on chromosome 8.

The IKBKB protein participates in IKBKB Q432Pfs*62 and TNFα:TNFR1:TRADD:K63,Met1polyUb, p-S25-RIPK1:BIRC2/3:p-S-CHUK:p-S-IKBKB:IKBKG pathways.

IKBKB is classified as a druggable target (Druggable Genome, Enzyme, Kinase, Serine Threonine Kinase, and Transcription Factor categories) with score 7.5.

Genetic testing for IKBKB is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for severe combined immunodeficiency due to IKK2 deficiency has been reported in the published literature.

Phenotype severity distribution: 3 always present features, 5 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for severe combined immunodeficiency due to IKK2 deficiency.

154 publications have been identified in PubMed for severe combined immunodeficiency due to IKK2 deficiency. Research spans Epidemiology / Natural History (34%), Basic Science / Preclinical (27%), and Review / Meta-Analysis (18%).