immunodeficiency 36 (DOID:0111949)
Alliance: disease page
Synonyms: activated phosphoinositide 3-kinase delta syndrome 2; IMD36
Alt IDs: OMIM:616005, NCI:C176703, UMLS_CUI:C4014934
Definition: A combined T cell and B cell immunodeficiency characterized by recurrent respiratory tract infections, lymphoproliferation, and antibody deficiency that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13.1.