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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:0000989 | Pruritus |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0001821 | Broad nail |
| HP:0100825 | Cheilitis |
| HP:0002719 | Recurrent infections |
| HP:0200042 | Skin ulcer |
| HP:0002205 | Recurrent respiratory infections |
| HP:0012115 | Hepatitis |
| HP:0001250 | Seizure |
| HP:0004370 | Abnormality of temperature regulation |
