A 1,100-year-old founder effect mutation in IL12B gene is responsible for Mendelian susceptibility to mycobacterial disease in Tunisian patients

• Published in: Immunogenetics (New York) Vol. 66; no. 1; pp. 67 - 71
• Main Authors: Ben-Mustapha, Imen, Ben-Ali, Meriem, Mekki, Najla, Patin, Etienne, Harmant, Christine, Bouguila, Jihène, Elloumi-Zghal, Houda, Harbi, Abdelaziz, Béjaoui, Mohamed, Boughammoura, Lamia, Chemli, Jalel, Barbouche, Mohamed-Ridha
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 2014; Springer Nature B.V; Springer Verlag
• Subjects: Adult; Alleles; Allergology; Bacteriology; BCG Vaccine; BCG Vaccine - therapeutic use; Biomedical and Life Sciences; Biomedicine; Brief Communication; Cell Biology; Chicken pox; Child; Cytokines; Disease; Female; Founder Effect; Gene Function; Genes; Genetic counseling; Genetic Predisposition to Disease; Genetic screening; Genetics; Genotype; Human Genetics; Humans; Immune system; Immunology; Infections; Interleukin-12 Subunit p40; Interleukin-12 Subunit p40 - deficiency; Interleukin-12 Subunit p40 - genetics; Life Sciences; Male; Microbiology and Parasitology; Mutation; Mutation - genetics; Mycobacterium bovis; Mycobacterium bovis - isolation & purification; Mycobacterium Infections; Mycobacterium Infections - genetics; Mycobacterium Infections - immunology; Mycobacterium Infections - microbiology; Mycobacterium Infections - prevention & control; Patients; Pediatrics; Pedigree; Salmonella; Tunisia; Viral infections; Virulence; Tunisia; France; Paris France; Primary immunodeficiency disease; Consanguinity; deficiency; Founder effect; Tunisia

Mendelian susceptibility to mycobacterial disease (MSMD) is a rare disorder predisposing apparently healthy individuals to infections caused by weakly virulent mycobacteria such as bacille Calmette–Guerin (BCG), environmental mycobacteria, and poorly virulent Salmonella strains. IL-12p40 deficiency...