combined immunodeficiency
Findings
No curated finding names combined immunodeficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A broad classification of inherited disorders presenting at birth that affect both the cell-mediated and humoral aspects of the immune response. Circulating numbers of B lymphocytes, T lymphocytes and NK cells are variable but where present do not function properly. Susceptibility to infection is the primary concern.
Definition from the Mondo Disease Ontology (MONDO:0015131), read 2026-09-29. CC BY 4.0.
Genes
8 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.
- IRF4HGNC:6119
- Definitive · ClinGen · Autosomal dominant · 2024
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · PanelApp Australia · Autosomal dominant · 2025
- IL7HGNC:6023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- ITPR3HGNC:6182
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- ERBINHGNC:15842
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- ICOSLGHGNC:17087
- Moderate · ClinGen · Autosomal recessive · 2023
- SLC19A1HGNC:10937
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- CRACR2AHGNC:28657
- Limited · ClinGen · Autosomal recessive · 2024
- POLE2HGNC:9178
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
- Narrower terms (33)
- ataxia telangiectasia
- autosomal dominant combined immunodeficiency due to ERBIN deficiency
- autosomal dominant combined immunodeficiency due to partial IL6ST deficiency
- autosomal recessive combined immunodeficiency due to complete IL6ST deficiency
- autosomal recessive combined immunodeficiency due to IL6R deficiency
- autosomal recessive combined immunodeficiency due to partial IL6ST deficiency
- combined immunodeficiency due to CD3gamma deficiency
- combined immunodeficiency due to CRAC channel dysfunction
- combined immunodeficiency due to CTPS1 deficiency
- combined immunodeficiency due to dimerization defective IKAROS mutation
- combined immunodeficiency due to GINS1 deficiency
- combined immunodeficiency due to MALT1 deficiency
- combined immunodeficiency due to moesin deficiency
- combined immunodeficiency due to OX40 deficiency
- combined immunodeficiency due to POLE2 deficiency
Other names
2 names
Resolves to: combined immunodeficiency
- Also called
- CIDcongenital combined immunodeficiency