Features include always present findings: Central adrenal insufficiency, Abnormal response to ACTH stimulation test, Decreased circulating IgG concentration, and Decreased circulating total IgM and others; and common findings: Frequent Giardia lamblia infestation, Alopecia totalis, Recurrent pneumonia, and Recurrent oral herpes and others. 24 total HPO annotations.

NFKB2 encodes nuclear factor kappa B subunit 2 (900 aa). NF-kappa-B is a pleiotropic transcription factor present in almost all cell types and is the endpoint of a series of signal transduction events that are initiated by a vast array of stimuli related to many biological processes such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. Highest expression in Cells EBV-transformed lymphocytes (181.2 TPM) and Spleen (75.9 TPM).

Immunodeficiency, common variable, 10 is caused by mutations in the NFKB2 gene on chromosome 10.

The NFKB2 protein participates in SUMOylation of NFKB2 with SUMO1 and p52:RELB translocates from cytosol to nucleus pathways.

NFKB2 is classified as a druggable target (Clinically Actionable, Druggable Genome, Kinase, and Transcription Factor categories) with score 0.9.

Genetic testing for NFKB2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for immunodeficiency, common variable, 10 has been reported in the published literature.

Phenotype severity distribution: 8 always present features, 9 common features.

No clinical trials have been registered for immunodeficiency, common variable, 10.

88 publications have been identified in PubMed for immunodeficiency, common variable, 10. Research spans Case Report / Case Series (29%), Epidemiology / Natural History (29%), and Basic Science / Preclinical (18%).