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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: activated phosphoinositide 3-kinase delta syndrome 2, IMD36

Xenbase Genes : pik3r1


MIM:
MIM:616005 - IMMUNODEFICIENCY 36 WITH LYMPHOPROLIFERATION; IMD36

Other Model Organisms: Alliance, 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)