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Page 1
Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds.
Prando C, Samarina A, Bustamante J, Boisson-Dupuis S, Cobat A, Picard C, AlSum Z, Al-Jumaah S, Al-Hajjar S, Frayha H, Al-Mousa H, 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. Prando C, et al. Among authors: bejaoui m. Medicine (Baltimore). 2013 Mar;92(2):109-122. doi: 10.1097/MD.0b013e31828a01f9. Medicine (Baltimore). 2013. PMID: 23429356 Free PMC article.
X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production.
Filipe-Santos O, Bustamante J, Haverkamp MH, Vinolo E, Ku CL, Puel A, Frucht DM, Christel K, von Bernuth H, Jouanguy E, Feinberg J, Durandy A, Senechal B, Chapgier A, Vogt G, de Beaucoudrey L, Fieschi C, Picard C, Garfa M, Chemli J, Bejaoui M, Tsolia MN, Kutukculer N, Plebani A, Notarangelo L, Bodemer C, Geissmann F, Israël A, Véron M, Knackstedt M, Barbouche R, Abel L, Magdorf K, Gendrel D, Agou F, Holland SM, Casanova JL. Filipe-Santos O, et al. Among authors: bejaoui m. J Exp Med. 2006 Jul 10;203(7):1745-59. doi: 10.1084/jem.20060085. Epub 2006 Jul 3. J Exp Med. 2006. PMID: 16818673 Free PMC article.
Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients.
Ouederni M, Vincent QB, Frange P, Touzot F, Scerra S, Bejaoui M, Bousfiha A, Levy Y, Lisowska-Grospierre B, Canioni D, Bruneau J, Debré M, Blanche S, Abel L, Casanova JL, Fischer A, Picard C. Ouederni M, et al. Among authors: bejaoui m. Blood. 2011 Nov 10;118(19):5108-18. doi: 10.1182/blood-2011-05-352716. Epub 2011 Sep 8. Blood. 2011. PMID: 21908431 Free article.
Primary immunodeficiencies in highly consanguineous North African populations.
Barbouche MR, Galal N, Ben-Mustapha I, Jeddane L, Mellouli F, Ailal F, Bejaoui M, Boutros J, Marsafy A, Bousfiha AA. Barbouche MR, et al. Among authors: bejaoui m. Ann N Y Acad Sci. 2011 Nov;1238:42-52. doi: 10.1111/j.1749-6632.2011.06260.x. Ann N Y Acad Sci. 2011. PMID: 22129052
Clinical, immunological and genetic findings of a large tunisian series of major histocompatibility complex class II deficiency patients.
Ben-Mustapha I, Ben-Farhat K, Guirat-Dhouib N, Dhemaied E, Larguèche B, Ben-Ali M, Chemli J, Bouguila J, Ben-Mansour L, Mellouli F, Khemiri M, Béjaoui M, Barbouche MR. Ben-Mustapha I, et al. Among authors: bejaoui m. J Clin Immunol. 2013 May;33(4):865-70. doi: 10.1007/s10875-013-9863-8. Epub 2013 Jan 13. J Clin Immunol. 2013. PMID: 23314770
A 1,100-year-old founder effect mutation in IL12B gene is responsible for Mendelian susceptibility to mycobacterial disease in Tunisian patients.
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. Ben-Mustapha I, et al. Among authors: bejaoui m. Immunogenetics. 2014 Jan;66(1):67-71. doi: 10.1007/s00251-013-0739-0. Epub 2013 Oct 15. Immunogenetics. 2014. PMID: 24127073
206 results