Features include always present findings: Decreased circulating total IgM, Decreased specific antibody response to vaccination, Combined immunodeficiency, and Recurrent sinusitis and others; and common findings: Decreased class-switched memory B cell proportion, Psoriasiform dermatitis, and Chronic diarrhea. 10 total HPO annotations.

IRF2BP2 encodes interferon regulatory factor 2 binding protein 2 (587 aa). Acts as a transcriptional corepressor in a IRF2-dependent manner; this repression is not mediated by histone deacetylase activities. Highest expression in Artery Tibial (137.0 TPM) and Artery Aorta (113.8 TPM).

Immunodeficiency, common variable, 14 has limited evidence linking it to mutations in the IRF2BP2 gene on chromosome 1.

IRF2BP2 is classified as a druggable target with score 0.0.

Genetic testing for IRF2BP2 is available. Testing is considered research-grade for diagnosis.

Biomarker and diagnostic research for immunodeficiency, common variable, 14 has been reported in the published literature.

Phenotype severity distribution: 6 always present features, 3 common features.

No clinical trials have been registered for immunodeficiency, common variable, 14.

45 publications have been identified in PubMed for immunodeficiency, common variable, 14. Research spans Epidemiology / Natural History (38%), Basic Science / Preclinical (20%), and Case Report / Case Series (16%).