immunodeficiency 30 (DOID:0111990)
Alliance: disease page
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
Alt IDs: OMIM:614891, NCI:C176800, ORDO:319552, UMLS_CUI:C4013949
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.