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

Immunogenetics

Volumn 66, Issue 1, 2014, Pages 67-71

  Ben Mustapha, Imen ^a,b   Ben Ali, Meriem ^a,b   Mekki, Najla ^a,b   Patin, Etienne ^c,d   Harmant, Christine ^c,d   Bouguila, Jihène ^e   Elloumi Zghal, Houda ^a,b   Harbi, Abdelaziz ^f   Béjaoui, Mohamed ^g   Boughammoura, Lamia ^e   Chemli, Jalel ^f   Barbouche, Mohamed Ridha ^a,b  

^a PASTEUR INSTITUTE OF TUNIS   (Tunisia)

^b UNIVERSITY OF TUNIS EL MANAR   (Tunisia)

^c INSTITUT PASTEUR   (France)

^d CNRS   (France)

^e FARHAT HACHED HOSPITAL   (Tunisia)

^f SAHLOUL UNIVERSITY HOSPITAL   (Tunisia)

^g CENTRE NATIONAL DE GREFFE DE MOELLE OSSEUSE   (Tunisia)

Author keywords

Consanguinity; Founder effect; IL12 p40 deficiency; Primary immunodeficiency disease; Tunisia

Indexed keywords

INTERLEUKIN 12P40;

ALLELE; ARTICLE; AUTOSOMAL INHERITANCE; BACTERIAL GENE; BCG VACCINATION; CLINICAL ARTICLE; CLINICAL FEATURE; CONSANGUINITY; CONTROLLED STUDY; FEMALE; FOUNDER EFFECT; GENE MUTATION; GENETIC DISORDER; HUMAN; IL12B GENE; IMMUNE DEFICIENCY; MALE; MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE; MYCOBACTERIOSIS; POPULATION GENETICS; PRIORITY JOURNAL; TUNISIA;

EID: 84891764100     PISSN: 00937711     EISSN: 14321211     Source Type: Journal    
DOI: 10.1007/s00251-013-0739-0     Document Type: Article

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