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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:0000682 | Abnormal dental enamel morphology |
| HP:0002715 | Abnormality of the immune system |
| HP:0012735 | Cough |
| HP:0001597 | Abnormality of the nail |
| HP:0008388 | Abnormal toenail morphology |
| HP:0001231 | Abnormal fingernail morphology |
| HP:0010783 | Erythema |
| HP:0002105 | Hemoptysis |
| HP:0200034 | Papule |
| HP:0004306 | Abnormal endocardium morphology |
