agammaglobulinemia
Findings
No curated finding names agammaglobulinemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A decreased level of serum immunoglobulins. It may be inherited or acquired. It is caused by decreased or inefficient production of immunoglobulins from B cells or by a decrease in the numbers of B cells themselves. Low levels of immunoglobulins will affect the immune system's ability to combat bacterial infection. Supplementation of immunoglobulins is needed to prevent worsening outcomes.
Definition from the Mondo Disease Ontology (MONDO:0015977), read 2026-09-29. CC BY 4.0.
Genes
5 genes
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.
- POU2AF1HGNC:9211
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · ClinGen · Autosomal recessive · 2022
- SLC39A7HGNC:4927
- Moderate · ClinGen · Autosomal recessive · 2021
- BRWD1HGNC:12760
- Limited · ClinGen · Autosomal dominant · 2022
- LRRC8AHGNC:19027
- Limited · ClinGen · Autosomal dominant · 2024
- TNFSF13HGNC:11928
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
- Narrower terms (10)
- activated PI3K-delta syndrome
- agammaglobulinemia 10, autosomal dominant
- agammaglobulinemia 8b, autosomal recessive
- agammaglobulinemia 9, autosomal recessive
- agammaglobulinemia, autosomal recessive, due to BOB1 deficiency
- congenital agammaglobulinemia
- Good syndrome
- immunodeficiency 61
- isolated agammaglobulinemia
- syndromic agammaglobulinemia