Features include always present findings: Glomerulonephritis, Stage 5 chronic kidney disease, Complete or near-complete absence of specific antibody response to tetanus vaccine, and Enlarged liver (hepatomegaly) and others. 18 total HPO annotations.

CD81 encodes CD81 molecule (236 aa). Structural component of specialized membrane microdomains known as tetraspanin-enriched microdomains (TERMs), which act as platforms for receptor clustering and signaling. Highest expression in Uterus (1,119 TPM) and Cervix Endocervix (834.6 TPM).

Immunodeficiency, common variable, 6 has limited evidence linking it to mutations in the CD81 gene on chromosome 11.

CD81 is classified as a druggable target (Cell Surface, Druggable Genome, and Transporter categories) with score 0.0.

Genetic testing for CD81 is available. Testing is considered research-grade for diagnosis.

Biomarker and diagnostic research for immunodeficiency, common variable, 6 has been reported in the published literature.

Phenotype severity distribution: 16 always present features.

No clinical trials have been registered for immunodeficiency, common variable, 6.

98 publications have been identified in PubMed for immunodeficiency, common variable, 6. Research spans Epidemiology / Natural History (37%), Review / Meta-Analysis (21%), and Case Report / Case Series (18%).