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MIRAGE
immunodeficiency 14
Summary
- Synonym
-
- APDS
- IMD14
- PASLI disease
- activated PI3K-delta syndrome
- senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation
- Definition
- A combined T cell and B cell immunodeficiency characterized by B- and T-cell abnormalities and onset of recurrent sinopulmonary and other infections in early childhood that has_material_basis_in heterozygous activating mutation in the PIK3CD gene on chromosome 1p36.22.
- Super Class
- autosomal dominant disease combined T cell and B cell immunodeficiency
External Links
- Disease Ontology
- DOID:0111936
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O00329 | Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002110 | Bronchiectasis |
| HP:0001369 | Arthritis |
| HP:0002716 | Lymphadenopathy |
| HP:0000365 | Hearing impairment |
| HP:0002242 | Abnormal intestine morphology |
| HP:0001744 | Splenomegaly |
| HP:0000252 | Microcephaly |
| HP:0002090 | Pneumonia |
| HP:0002665 | Lymphoma |
| HP:0000403 | Recurrent otitis media |
