immunodeficiency disease
MONDO:0021094Mondo
Findings
No curated finding names immunodeficiency disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.
Definition from the Mondo Disease Ontology (MONDO:0021094), read 2026-09-29. CC BY 4.0.
Genes
14 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.
- IL21RHGNC:6006
- Definitive · ClinGen · Autosomal recessive · 2022
- RAG1HGNC:9831
- Definitive · Ambry Genetics · Autosomal recessive · 2025
- IL23RHGNC:19100
- Strong · PanelApp Australia · Autosomal recessive · 2025
- NCKAP1LHGNC:4862
- Strong · PanelApp Australia · Autosomal recessive · 2025
- RHBDF2HGNC:20788
- Strong · PanelApp Australia · Autosomal recessive · 2025
- ATG9AHGNC:22408
- Limited · PanelApp Australia · Autosomal recessive · 2025
- IKZF2HGNC:13177
- Limited · Ambry Genetics · Autosomal dominant · 2025
- IL12RB2HGNC:5972
- Limited · PanelApp Australia · Autosomal recessive · 2025
- IRAK1HGNC:6112
- Limited · PanelApp Australia · X-linked · 2025
- NFAT5HGNC:7774
- Limited · ClinGen · Autosomal dominant · 2024
- NUP98HGNC:8068
- Limited · LiferaOmics · Autosomal recessive · 2026
- RGS10HGNC:9992
- Limited · PanelApp Australia · Autosomal recessive · 2025
- SH3GL1HGNC:10830
- Limited · Ambry Genetics · Autosomal recessive · 2024
- TAOK2HGNC:16835
- Limited · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- Narrower terms (96)
- autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
- B cell deficiency
- combined immunodeficiency
- complement deficiency
- cryptosporidiosis-chronic cholangitis-liver disease syndrome
- DOCK2 deficiency
- FADD-related immunodeficiency
- hypoproteinemia, hypercatabolic
- idiopathic CD4 lymphocytopenia
- immunodeficiency 101 (varicella zoster virus-specific)
- immunodeficiency 102
- immunodeficiency 106, susceptibility to viral infections
- immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection
- immunodeficiency 14b, autosomal recessive
- immunodeficiency 15a
- immunodeficiency 23
- immunodeficiency 31B
- immunodeficiency 35
Other names
3 names
Resolves to: immunodeficiency disease
- Also called
- immuno-deficiencyimmunodeficiencyimmunodeficiency disorder