| Metadata | |
|---|---|
| ID | DOID:0111990 |
| Name | immunodeficiency 30 |
| Definition | A T cell and NK cell immunodeficiency characterized by absence of responses to IL12 and IL23 in T calls and NK cells that has_material_basis_in homozygous or compound heterozygous mutation in the IL12RB1 gene on chromosome 19p13.11. https://pubmed.ncbi.nlm.nih.gov/19084105/, https://pubmed.ncbi.nlm.nih.gov/9603732/, https://pubmed.ncbi.nlm.nih.gov/9603733/ |
| Xrefs | |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
IMD30 [EXACT] Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency [EXACT] Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency [EXACT] MSMD due to complete IL12RB1 deficiency [EXACT] MSMD due to complete interleukin 12 receptor beta 1 deficiency [EXACT] |
| Parent Relationships |