| Metadata | |
|---|---|
| ID | DOID:0111936 |
| Name | immunodeficiency 14 |
| 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. https://pubmed.ncbi.nlm.nih.gov/24165795/, https://ghr.nlm.nih.gov/condition/activated-pi3k-delta-syndrome |
| Xrefs |
SNOMEDCT_US_2023_03_01:711480000 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
activated PI3K-delta syndrome [EXACT] APDS [EXACT] IMD14 [EXACT] PASLI disease [EXACT] senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |