Term Name: | immunodeficiency 14 |
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Synonyms: | activated PI3K-delta syndrome, APDS, IMD14, PASLI disease, 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. |
Ontology: | Human Disease [DOID:0111936] ( DOID:0111936 ) |