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Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the TCF3 gene.
Features include always present findings: Agammaglobulinemia, Recurrent infections, and Decreased total B cell count; and common findings: Recurrent otitis media. 5 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Blood and immune system | 1 | Recurrent infections |
TCF3 function has not been fully characterized.
Agammaglobulinemia 8, autosomal dominant is associated with mutations in the TCF3 gene on chromosome 19.
Genetic testing for TCF3 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for agammaglobulinemia 8, autosomal dominant has been reported in the published literature.
Phenotype severity distribution: 3 always present features, 1 common feature.
No clinical trials have been registered for agammaglobulinemia 8, autosomal dominant.
6 publications have been identified in PubMed for agammaglobulinemia 8, autosomal dominant. Research spans Diagnostic / Biomarker (33%), Epidemiology / Natural History (33%), and Case Report / Case Series (17%).
Hlongwa L (2026). [PMID: 41692833](https://pubmed.ncbi.nlm.nih.gov/41692833/). *Sci Rep*. [Basic Science / Preclinical]
Blom M (2025). [PMID: 41203922](https://pubmed.ncbi.nlm.nih.gov/41203922/). *J Clin Immunol*. [Diagnostic / Biomarker]
Bloomfield M (2025). [PMID: 40321024](https://pubmed.ncbi.nlm.nih.gov/40321024/). *Pediatr Allergy Immunol*. [Diagnostic / Biomarker]
Utsumi T (2024). [PMID: 39073655](https://pubmed.ncbi.nlm.nih.gov/39073655/). *J Clin Immunol*. [Case Report / Case Series]
Khoshnevisan R (2024). [PMID: 38683392](https://pubmed.ncbi.nlm.nih.gov/38683392/). *Immunogenetics*. [Epidemiology / Natural History]
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:16 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about agammaglobulinemia 8, autosomal dominant
1 |
Recurrent otitis media |