Term Name: | immunodeficiency 29 |
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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 |
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. |
Ontology: | Human Disease [DOID:0111950] ( DOID:0111950 ) |