DISEASES

Disease-gene associations mined from literature

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,  MSMD due to complete IL12RB1 deficiency,  MSMD due to complete interleukin 12 receptor beta 1 deficiency ...