immunodeficiency 29 (DOID:0111950)
Alliance: disease page
Synonyms: IL12B deficiency; IMD29; immunodeficiency 29, mycobacteriosis; Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency; Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency; MSMD due to complete IL12B deficiency; MSMD due to complete interleukin 12B deficiency
Alt IDs: OMIM:614890, ORDO:319558
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.