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Summary Literature (0)
DOID:0111949 - immunodeficiency 36

Disease Ontology 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.

Synonyms: IMD36, activated phosphoinositide 3-kinase delta syndrome 2,

Xenbase Genes : pik3r1



Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), combined T cell and B cell immunodeficiency (is_a)