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Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79A gene.
Features include always present findings: Diarrhea, Agammaglobulinemia, Recurrent lower respiratory tract infections, and Absent isohemagglutinin level and others. 11 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Blood and immune system | 3 | Recurrent lower respiratory tract infections, Recurrent bacterial infections, Decreased total neutrophil count |
CD79A encodes CD79a molecule (226 aa). Required in cooperation with CD79B for initiation of the signal transduction cascade activated by binding of antigen to the B-cell antigen receptor complex (BCR) which leads to internalization of the complex, trafficking to late endosomes and antigen presentation. Highest expression in Cells EBV-transformed lymphocytes (717.9 TPM) and Spleen (333.8 TPM).
Agammaglobulinemia 3, autosomal recessive is caused by mutations in the CD79A gene on chromosome 19.
The CD79A protein participates in Signaling by the B Cell Receptor (BCR) and Antigen activates B Cell Receptor (BCR) leading to generation of second messengers pathways.
CD79A is classified as a druggable target (Clinically Actionable, Druggable Genome, External Side Of Plasma Membrane, and Kinase categories) with score 13.1.
Genetic testing for CD79A is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 10 always present features.
No clinical trials have been registered for agammaglobulinemia 3, autosomal recessive.
9 publications have been identified in PubMed for agammaglobulinemia 3, autosomal recessive. Research spans Case Report / Case Series (67%), Epidemiology / Natural History (22%), and Review / Meta-Analysis (11%).
Justiz Vaillant AA (2026). [PMID: 29763203](https://pubmed.ncbi.nlm.nih.gov/29763203/). *Unknown Journal*. [Review / Meta-Analysis]
NoorSaeed SM (2025). [PMID: 41327272](https://pubmed.ncbi.nlm.nih.gov/41327272/). *Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology*. [Case Report / Case Series]
Özdemiral C (2025). [PMID: 40862510](https://pubmed.ncbi.nlm.nih.gov/40862510/). *Journal of medical virology*. [Epidemiology / Natural History]
Syed Iqbaluddin J (2024). [PMID: 39044864](https://pubmed.ncbi.nlm.nih.gov/39044864/). *Cureus*. [Case Report / Case Series]
Yu L (2024). [PMID: 38805163](https://pubmed.ncbi.nlm.nih.gov/38805163/). *Journal of clinical immunology*. [Case Report / Case Series]
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:51 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about agammaglobulinemia 3, autosomal recessive
Lungs and breathing |
2 |
Recurrent lower respiratory tract infections, Recurrent bronchitis |
Digestive system | 1 | Diarrhea |
Growth and development | 1 | Failure to thrive |
Ears | 1 | Recurrent otitis media |
Coşkun Ç (2024). [PMID: 39120005](https://pubmed.ncbi.nlm.nih.gov/39120005/). *Turkish journal of haematology : official journal of Turkish Society of Haematology*. [Case Report / Case Series]
Khoshnevisan R (2024). [PMID: 38683392](https://pubmed.ncbi.nlm.nih.gov/38683392/). *Immunogenetics*. [Epidemiology / Natural History]
Tekcan D (2024). [PMID: 39607724](https://pubmed.ncbi.nlm.nih.gov/39607724/). *Pediatric allergy, immunology, and pulmonology*. [Case Report / Case Series]
Sil A (2024). [PMID: 39215847](https://pubmed.ncbi.nlm.nih.gov/39215847/). *Journal of clinical immunology*. [Case Report / Case Series]