Features include common findings: Combined immunodeficiency and Recurrent pneumonia; and sometimes findings: Recurrent sinopulmonary infections, Pyoderma gangrenosum, Alopecia, and Atrophic gastritis and others. 14 total HPO annotations.

NFKB1 encodes nuclear factor kappa B subunit 1 (968 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 (98.0 TPM) and Cervix Ectocervix (35.2 TPM).

Immunodeficiency, common variable, 12 has been associated with mutations in the NFKB1 gene on chromosome 4.

NFKB1 is classified as a druggable target (Druggable Genome, Kinase, Transcription Factor, and Transcription Factor Complex categories) with score 0.5.

Genetic testing for NFKB1 is available. Testing is considered supportive for diagnosis.

Biomarker and diagnostic research for immunodeficiency, common variable, 12 has been reported in the published literature.

Phenotype severity distribution: 2 common features.

No clinical trials have been registered for immunodeficiency, common variable, 12.

96 publications have been identified in PubMed for immunodeficiency, common variable, 12. Research spans Epidemiology / Natural History (25%), Review / Meta-Analysis (21%), and Case Report / Case Series (19%).