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immunodeficiency 51
Summary
- Synonym
-
- CANDF5
- IMD51
- familial candidiasis 5
- Definition
- A primary immunodeficiency disease characterized by onset of chronic mucocutaneous candidiasis in the first years of life and lack of cellular responses to stimulation with certain IL17 isoforms that has_material_basis_in homozygous or compound heterozygous mutation in the IL17RA gene on chromosome 22q11.1.
- Super Class
- autosomal recessive disease primary immunodeficiency disease
External Links
- Disease Ontology
- DOID:0111996
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000159 | Abnormal lip morphology |
| HP:0000790 | Hematuria |
| HP:0000142 | Abnormal vagina morphology |
| HP:0000962 | Hyperkeratosis |
| HP:0000504 | Abnormality of vision |
| HP:0000010 | Recurrent urinary tract infections |
| HP:0000951 | Abnormality of the skin |
| HP:0000478 | Abnormality of the eye |
| HP:0000988 | Skin rash |
| HP:0000153 | Abnormality of the mouth |
