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immunodeficiency 29
Summary
- Synonym
-
- 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
- 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.
- Super Class
- autosomal recessive disease primary immunodeficiency disease
External Links
- Disease Ontology
- DOID:0111950
- Mondo Disease Ontology
- ORDO
- OMIM
