CD19
Chr 16ARCD19 molecule
Also known as: B4, CVID3
CD19 encodes a B-cell surface coreceptor that decreases the threshold for B-cell activation and is required for normal B-cell differentiation, proliferation in response to antigens, and production of high-affinity antibodies. Mutations cause autosomal recessive common variable immunodeficiency 3, characterized by hypogammaglobulinemia, impaired antibody responses, and recurrent bacterial infections. The gene is highly constrained against loss-of-function variants (pLI = 0.90, LOEUF = 0.36), reflecting its critical role in adaptive immunity.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
476 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 7 | 1 | 71 | 0 | 79 |
Likely Pathogenic | 2 | 0 | 7 | 0 | 9 |
VUS | 1 | 141 | 39 | 2 | 183 |
Likely Benign | 1 | 4 | 74 | 99 | 178 |
Benign | 0 | 1 | 9 | 2 | 12 |
Conflicting | — | 12 | |||
| Total | 11 | 147 | 200 | 103 | 473 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CD19 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Clinical Study of A-319 in the Treatment of Active/Refractory Systemic Lupus Erythematosus
RECRUITINGStudy of Therapeutic Efficacy of Anti-CD19 CAR-T Cells in Refractory Systemic Lupus Erythematosus
ACTIVE NOT RECRUITINGAnti-CD19 CAR-T Cells With Inducible Caspase 9 Safety Switch for B-cell Lymphoma
ACTIVE NOT RECRUITINGEarly Life Malnutrition, Environmental Enteric Dysfunction and Microbiome Trajectories
RECRUITINGUniversal CAR-T Cell Therapy for NHL
RECRUITINGActivated T-Cells Expressing 2nd or 3rd Generation CD19-Specific CAR, Advanced B-Cell NHL, ALL, and CLL (SAGAN)
RECRUITINGAllogeneic CARCIK-CD19 in Adults/Pediatric B-cell NHL or Chronic Lymphocytic Leukemia
RECRUITINGStem Cell Transplant From Donors After Alpha Beta Cell Depletion in Children and Adults With T-allo10 Cells Addback
RECRUITINGU96-CAR-T-Cells For R/R B-ALL
RECRUITINGCombination CAR-T Cell Therapy Targeting Hematological Malignancies
RECRUITINGEx Vivo Perfusion of Gene-Edited Porcine Livers in Patients With Severe Hepatic Failure
ACTIVE NOT RECRUITINGPostoperative Effects of Different Enterostomy Approaches
RECRUITINGExternal Resources
Links to major genomics databases and tools