Term Name: immunodeficiency 36
Synonyms: activated phosphoinositide 3-kinase delta syndrome 2, IMD36
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.
Ontology: Human Disease [DOID:0111949]   ( DOID:0111949 )

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