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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
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002960 | Autoimmunity |
| HP:0005403 | T lymphocytopenia |
| HP:0002205 | Recurrent respiratory infections |
| HP:0100658 | Cellulitis |
| HP:0008348 | Decreased circulating IgG2 level |
| HP:0002721 | Immunodeficiency |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0005425 | Recurrent sinopulmonary infections |
| HP:0012476 | Decreased specific pneumococcal antibody level |
