Term Name: immunodeficiency 14
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 )

Relationships
is a type of: autosomal dominant disease combined T cell and B cell immunodeficiency