Gene Symbol: IL12B
OMIM: 161561Chromosome location: 5q33.3
Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| Tunisia | NA | NA | 6 patients/4 families | 1100 years old | Ben-Mustapha I et al., 2014Ben-Mustapha I, Ben-Ali M, Mekki N, Patin E, Harmant C, Bouguila J, Elloumi-Zghal H, Harbi A, Béjaoui M, Boughammoura L, Chemli J, Barbouche MR, . A 1,100-year-old founder effect mutation in IL12B gene is responsible for Mendelian susceptibility to mycobacterial disease in Tunisian patients.. Immunogenetics. 2014; 66(1):67-71 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| Tunisia | NA | NA | 8 patients/5 families | NA | Prando C et al., 2013Prando C, Samarina A, Bustamante J, Boisson-Dupuis S, Cobat A, Picard C, AlSum Z, Al-Jumaah S, Al-Hajjar S, Frayha H, Alangari A, Al-Mousa H, Mobaireek KF, Ben-Mustapha I, Adimi P, Feinberg J, de Suremain M, Jannière L, Filipe-Santos O, Mansouri N, Stephan JL, Nallusamy R, Kumararatne DS, Bloorsaz MR, Ben-Ali M, Elloumi-Zghal H, Chemli J, Bouguila J, Bejaoui M, Alaki E, AlFawaz TS, Al Idrissi E, ElGhazali G, Pollard AJ, Murugasu B, Wah Lee B, Halwani R, Al-Zahrani M, Al Shehri MA, Al-Zahrani M, Bin-Hussain I, Mahdaviani SA, Parvaneh N, Abel L, Mansouri D, Barbouche R, Al-Muhsen S, Casanova JL, . Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds.. Medicine (Baltimore). 2013; 92(2):109-22 |
References
Ben-Mustapha I, Ben-Ali M, Mekki N, Patin E, Harmant C, Bouguila J, Elloumi-Zghal H, Harbi A, Béjaoui M, Boughammoura L, Chemli J, Barbouche MR, A 1,100-year-old founder effect mutation in IL12B gene is responsible for Mendelian susceptibility to mycobacterial disease in Tunisian patients.Immunogenetics. 2014; 66(1):67-71
Prando C, Samarina A, Bustamante J, Boisson-Dupuis S, Cobat A, Picard C, AlSum Z, Al-Jumaah S, Al-Hajjar S, Frayha H, Alangari A, Al-Mousa H, Mobaireek KF, Ben-Mustapha I, Adimi P, Feinberg J, de Suremain M, Jannière L, Filipe-Santos O, Mansouri N, Stephan JL, Nallusamy R, Kumararatne DS, Bloorsaz MR, Ben-Ali M, Elloumi-Zghal H, Chemli J, Bouguila J, Bejaoui M, Alaki E, AlFawaz TS, Al Idrissi E, ElGhazali G, Pollard AJ, Murugasu B, Wah Lee B, Halwani R, Al-Zahrani M, Al Shehri MA, Al-Zahrani M, Bin-Hussain I, Mahdaviani SA, Parvaneh N, Abel L, Mansouri D, Barbouche R, Al-Muhsen S, Casanova JL, Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds.Medicine (Baltimore). 2013; 92(2):109-22