Human genes for immunodeficiency 30
Immunodeficiency 30 [DOID:0111990]
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 IL12RB1 on chromosome 19p13.11.
Synonyms: immunodeficiency 30, DOID:0111990, IMD30, Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ...