immunodeficiency 36

Summary

DOID:0111949 - immunodeficiency 36

Disease Ontology Definition:A combined T cell and B cell immunodeficiency characterized by infantile or childhood onset of recurrent bacterial respiratory tract infections, lymphoproliferation, variable antibody deficiency (sometimes with hyper IgM), chronic viral infection (EBV, CMV), and autoimmunity that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13.

Synonyms: activated phosphoinositide 3-kinase delta syndrome 2, IMD36, immunodeficiency-36 with lymphoproliferation

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: pik3r1

MIM:

MIM:616005 - IMMUNODEFICIENCY 36 WITH LYMPHOPROLIFERATION; IMD36

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

Parent(s): autosomal dominant disease (is_a), combined T cell and B cell immunodeficiency (is_a)