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immunodeficiency 30
Summary
- Synonym
-
- IMD30
- MSMD due to complete IL12RB1 deficiency
- MSMD due to complete interleukin 12 receptor beta 1 deficiency
- Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency
- Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 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.
- Super Class
- T cell and NK cell immunodeficiency autosomal recessive disease
External Links
- Disease Ontology
- DOID:0111990
- Mondo Disease Ontology
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
