| Metadata | |
|---|---|
| ID | DOID:0111950 |
| Name | immunodeficiency 29 |
| 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. https://pubmed.ncbi.nlm.nih.gov/19084105/, https://pubmed.ncbi.nlm.nih.gov/9854038/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
IL12B deficiency [EXACT] IMD29 [EXACT] immunodeficiency 29, mycobacteriosis [EXACT] Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency [EXACT] Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency [EXACT] MSMD due to complete IL12B deficiency [EXACT] MSMD due to complete interleukin 12B deficiency [EXACT] |
| Parent Relationships |