|?|| (G;G) (G;T) (T;T) ||28|
| Disease Association
|| Defects in IL12B are a cause of mendelian susceptibility to mycobacterial disease (MSMD) (MIM:209950); also known as familial disseminated atypical mycobacterial infection. This rare condition confers predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine and environmental nontuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. The pathogenic mechanism underlying MSMD is the impairment of interferon-gamma mediated immunity, whose severity determines the clinical outcome. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas. MSMD is a genetically heterogeneous disease with autosomal recessive, autosomal dominant or X-linked inheritance.
[PMID 22739501] Resequencing of the IL12B gene in psoriasis patients with the rs6887695/rs3212227 risk genotypes
[PMID 16600026] Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway.
[PMID 17236132] A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes.
[PMID 18045485] The candidate genes TAF5L, TCF7, PDCD1, IL6 and ICAM1 cannot be excluded from having effects in type 1 diabetes.
[PMID 20350312] Polymorphisms in genes of interleukin 12 and its receptors and their association with protection against severe malarial anaemia in children in western Kenya.
|| not reviewed
|| Insufficiently evaluated not reviewed
[PMID 25848976] Association of Common Genetic Polymorphisms with Melanoma Patient IL-12p40 Blood Levels, Risk and Outcomes