mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency — Definition

Tam IL12B eksikliğine bağlı Mendel tipi mikobakteriyel hastalıklara yatkınlık; the result of homozigot or compound heterozigot mutations in IL12B gene is a primary immunodeficiency disease with autozomal resessive passage, characterized by the absence of p40. This deficiency is a predisposition to severe, recurrent and common infections against IL-12/IL-23 signal path, which plays a critical role in the production of interferon-gama, particularly low virulans mikobacteria (BCG, atipik mikobacteria) and Salmonella species. Clinical findings often start early childhood and lead to high morbidity and mortality if not treated.

The Turkish equivalent of "mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency" is Tam IL12B eksikliğine bağlı Mendel tipi mikobakteriyel hastalıklara yatkınlık.

This term belongs to the Diseases category.