agammaglobulinemia 8, autosomal dominant
Findings
No curated finding names agammaglobulinemia 8, autosomal dominant yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the TCF3 gene.
Definition from the Mondo Disease Ontology (MONDO:0014840), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
4 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AgammaglobulinemiaHPOHP:0004432
- 4 of 4 reported patients
- Decreased total B cell countHPOHP:0010976
- 4 of 4 reported patients
- Recurrent infectionsHPOHP:0002719
- 4 of 4 reported patients
- Recurrent otitis mediaHPOHP:0000403
- 2 of 4 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TCF3HGNC:11633
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Moderate · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: agammaglobulinemia 8, autosomal dominant
- Also called
- agammaglobulinemia 8, autosomal dominant; AGM8AGM8autosomal agammaglobulinemia caused by mutation in TCF3TCF3 autosomal agammaglobulinemia