Features include always present findings: Combined immunodeficiency, Antinuclear antibody positivity, Chronic decreased circulating total IgG, and Recurrent respiratory infections. 7 total HPO annotations.

MS4A1 encodes membrane spanning 4-domains A1 (297 aa). B-lymphocyte-specific membrane protein that plays a role in the regulation of cellular calcium influx necessary for the development, differentiation, and activation of B-lymphocytes. Highest expression in Cells EBV-transformed lymphocytes (556.7 TPM) and Spleen (267.8 TPM).

Immunodeficiency, common variable, 5 has limited evidence linking it to mutations in the MS4A1 gene on chromosome 11.

MS4A1 is classified as a druggable target (Cell Surface, Clinically Actionable, Drug Resistance, Druggable Genome, and External Side Of Plasma Membrane categories) with score 6.0.

Genetic testing for MS4A1 is available. Testing is considered research-grade for diagnosis.

Biomarker and diagnostic research for immunodeficiency, common variable, 5 has been reported in the published literature.

Phenotype severity distribution: 4 always present features.

No clinical trials have been registered for immunodeficiency, common variable, 5.

122 publications have been identified in PubMed for immunodeficiency, common variable, 5. Research spans Epidemiology / Natural History (40%), Case Report / Case Series (22%), and Review / Meta-Analysis (12%).