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Features include always present findings: Decreased class-switched memory B cell proportion, Combined immunodeficiency, Chronic decreased circulating total IgG, and Reduced isohemagglutinin level and others; and common findings: Decreased circulating total IgM and Decreased circulating IgA concentration. 13 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Blood and immune system | 3 | Combined immunodeficiency, Recurrent bacterial infections, Recurrent respiratory infections |
CD19 encodes CD19 molecule (556 aa). Functions as a coreceptor for the B-cell antigen receptor complex (BCR) on B-lymphocytes. Highest expression in Spleen (166.2 TPM) and Cells EBV-transformed lymphocytes (138.2 TPM).
Immunodeficiency, common variable, 3 is caused by mutations in the CD19 gene on chromosome 16.
The CD19 protein participates in CD19 Signalosome pathway.
CD19 is classified as a druggable target (Clinically Actionable, Drug Resistance, Druggable Genome, and External Side Of Plasma Membrane categories) with score 3.9.
Genetic testing for CD19 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for immunodeficiency, common variable, 3 has been reported in the published literature.
Phenotype severity distribution: 5 always present features, 2 common features.
No clinical trials have been registered for immunodeficiency, common variable, 3.
30 publications have been identified in PubMed for immunodeficiency, common variable, 3. Research spans Epidemiology / Natural History (30%), Case Report / Case Series (27%), and Basic Science / Preclinical (20%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 9 | 30% |
Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 8:08 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Brain and nerves | 1 | Decreased class-switched memory B cell proportion |
Eyes | 1 | Conjunctivitis |
Ears | 1 | Recurrent otitis media |
Lungs and breathing | 1 | Recurrent respiratory infections |
Patient case studies
8 |
27% |
Laboratory research | 6 | 20% |
Clinical study results | 3 | 10% |
Research summaries | 2 | 7% |
Other research | 1 | 3% |
Testing and diagnosis research | 1 | 3% |
Butler K (2026). [PMID: 41782401](https://pubmed.ncbi.nlm.nih.gov/41782401/). *Curr Opin Gastroenterol*. [Review / Meta-Analysis]
Friedmann D (2026). [PMID: 41314478](https://pubmed.ncbi.nlm.nih.gov/41314478/). *J Allergy Clin Immunol*. [Clinical Trial Publication]
Donà MG (2026). [PMID: 41121983](https://pubmed.ncbi.nlm.nih.gov/41121983/). *Cancer Prev Res (Phila)*. [Diagnostic / Biomarker]
Elmazaly A (2026). [PMID: 41546855](https://pubmed.ncbi.nlm.nih.gov/41546855/). *Egypt J Immunol*. [Basic Science / Preclinical]
Ortiz Requena D (2026). [PMID: 41864428](https://pubmed.ncbi.nlm.nih.gov/41864428/). *Mod Pathol*. [Clinical Trial Publication]
Buyukyilmaz G (2025). [PMID: 40270454](https://pubmed.ncbi.nlm.nih.gov/40270454/). *J Pediatr Endocrinol Metab*. [Case Report / Case Series]
Juzbašić T (2025). [PMID: 40559732](https://pubmed.ncbi.nlm.nih.gov/40559732/). *Trop Med Infect Dis*. [Case Report / Case Series]
Le QA (2025). [PMID: 39724976](https://pubmed.ncbi.nlm.nih.gov/39724976/). *Prev Med*. [Review / Meta-Analysis]
Chovancova Z (2025). [PMID: 41030454](https://pubmed.ncbi.nlm.nih.gov/41030454/). *Front Immunol*. [Epidemiology / Natural History]
Parsons AJ (2025). [PMID: 39744645](https://pubmed.ncbi.nlm.nih.gov/39744645/). *Pulm Circ*. [Epidemiology / Natural History]