immunodeficiency 30

Term ID

DOID:0111990

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. (3)

References

• NCI:C176800
• OMIM:614891
• ORDO:319552
• UMLS_CUI:C4013949

Ontology

Human Disease   ( DOID:0111990 )