Term Name: | immunodeficiency 30 |
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Synonyms: | IMD30, Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, MSMD due to complete IL12RB1 deficiency, MSMD due to complete interleukin 12 receptor beta 1 deficiency |
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. |
Ontology: | Human Disease [DOID:0111990] ( DOID:0111990 ) |