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Summary Literature (0)
DOID:0111950 - immunodeficiency 29

Disease Ontology Definition:A primary immunodeficiency disease characterized by undetectable IL12B secretion by leukocytes and increased susceptibility to intracellular bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the IL12B gene on chromosome 5q33.3.

Synonyms: IL12B deficiency, IMD29, MSMD due to complete IL12B deficiency, MSMD due to complete interleukin 12B deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency, immunodeficiency 29, mycobacteriosis,

Xenbase Genes : il12b



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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), primary immunodeficiency disease (is_a)