Term Name: immunodeficiency 30
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 )

Relationships
is a type of: autosomal recessive disease T cell and NK cell immunodeficiency