agammaglobulinemia 10, autosomal dominant
MONDO:0030529Mondo
Findings
No curated finding names agammaglobulinemia 10, autosomal dominant yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
10 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.
- Absent circulating B cellsHPOHP:0030252
- 6 of 6 reported patients
- AgammaglobulinemiaHPOHP:0004432
- 6 of 6 reported patients
- Decreased circulating IgA concentrationHPOHP:0002720
- 6 of 6 reported patients
- Decreased circulating IgM concentrationHPOHP:0002850
- 6 of 6 reported patients
- Recurrent respiratory infectionsHPOHP:0002205
- 6 of 6 reported patients
- Recurrent sinusitisHPOHP:0011108
- 6 of 6 reported patients
- MeningitisHPOHP:0001287
- 1 of 6 reported patients
- Transiently decreased total neutrophil countHPOHP:0410255
- 1 of 6 reported patients
- Type I diabetes mellitusHPOHP:0100651
- 1 of 6 reported patients · Childhood onset
- Decreased circulating IgG concentrationHPOHP:0004315
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.
- SPI1HGNC:11241
- Definitive · ClinGen · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: agammaglobulinemia 10, autosomal dominant
- Also called
- AGM10