immunodeficiency 14 (DOID:0111936)
Alliance: disease page
Synonyms: activated PI3K-delta syndrome; APDS; IMD14; PASLI disease; senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation
Alt IDs: OMIM:615513, MESH:C585640, NCI:C187988, ORDO:397596, UMLS_CUI:C3714976
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.