Gene: interleukin 12B; IL12B


Gene Symbol: IL12B
OMIM: 161561
Chromosome location: 5q33.3

Related informations:  NCBI Gene  Genome Browser  Ensembl  UniProt  GeneCards  Kyoto Encyclopedia  BioGPS  HGNC  HPRD  

Immunodeficiency 29, mycobacteriosis (Mendelian susceptibility to mycobacterial disease) || c.298_305delTCGCTCCT

Phenotype:    Immunodeficiency 29, mycobacteriosis (Mendelian susceptibility to mycobacterial disease)
Dna Change:    c.298_305delTCGCTCCT
Protein Change:    p.Ser100AlafsX13
Mutation Type:    Deletion
Mutation Effect:    Frameshift
Location:    exon 3
Transcript:    NM_002187.2

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
TunisiaNANA6 patients/4 families1100 years oldBen-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

Immunodeficiency 29, mycobacteriosis (Mendelian susceptibility to mycobacterial disease) || 297del8

Phenotype:    Immunodeficiency 29, mycobacteriosis (Mendelian susceptibility to mycobacterial disease)
Dna Change:    297del8
Protein Change:   
Mutation Type:    Deletion
Mutation Effect:   
Location:   
Transcript:    NM_002187.2

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
TunisiaNANA8 patients/5 familiesNAPrando 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