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Page 1
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: barbouche mr. 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: barbouche mr. Immunogenetics. 2014 Jan;66(1):67-71. doi: 10.1007/s00251-013-0739-0. Epub 2013 Oct 15. Immunogenetics. 2014. PMID: 24127073
IL-17 T cells' defective differentiation in vitro despite normal range ex vivo in chronic mucocutaneous candidiasis due to STAT1 mutation.
Mekki N, Ben-Mustapha I, Liu L, Boussofara L, Okada S, Cypowyj S, Ghariani N, Saidi W, Denguezli M, Casanova JL, Puel A, Barbouche MR. Mekki N, et al. Among authors: barbouche mr. J Invest Dermatol. 2014 Apr;134(4):1155-1157. doi: 10.1038/jid.2013.480. Epub 2013 Nov 11. J Invest Dermatol. 2014. PMID: 24335902 Free article. No abstract available.
Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels.
Sassi A, Lazaroski S, Wu G, Haslam SM, Fliegauf M, Mellouli F, Patiroglu T, Unal E, Ozdemir MA, Jouhadi Z, Khadir K, Ben-Khemis L, Ben-Ali M, Ben-Mustapha I, Borchani L, Pfeifer D, Jakob T, Khemiri M, Asplund AC, Gustafsson MO, Lundin KE, Falk-Sörqvist E, Moens LN, Gungor HE, Engelhardt KR, Dziadzio M, Stauss H, Fleckenstein B, Meier R, Prayitno K, Maul-Pavicic A, Schaffer S, Rakhmanov M, Henneke P, Kraus H, Eibel H, Kölsch U, Nadifi S, Nilsson M, Bejaoui M, Schäffer AA, Smith CI, Dell A, Barbouche MR, Grimbacher B. Sassi A, et al. Among authors: barbouche mr. J Allergy Clin Immunol. 2014 May;133(5):1410-9, 1419.e1-13. doi: 10.1016/j.jaci.2014.02.025. Epub 2014 Apr 1. J Allergy Clin Immunol. 2014. PMID: 24698316 Free PMC article. Clinical Trial.
The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency.
Engelhardt KR, Gertz ME, Keles S, Schäffer AA, Sigmund EC, Glocker C, Saghafi S, Pourpak Z, Ceja R, Sassi A, Graham LE, Massaad MJ, Mellouli F, Ben-Mustapha I, Khemiri M, Kilic SS, Etzioni A, Freeman AF, Thiel J, Schulze I, Al-Herz W, Metin A, Sanal Ö, Tezcan I, Yeganeh M, Niehues T, Dueckers G, Weinspach S, Patiroglu T, Unal E, Dasouki M, Yilmaz M, Genel F, Aytekin C, Kutukculer N, Somer A, Kilic M, Reisli I, Camcioglu Y, Gennery AR, Cant AJ, Jones A, Gaspar BH, Arkwright PD, Pietrogrande MC, Baz Z, Al-Tamemi S, Lougaris V, Lefranc G, Megarbane A, Boutros J, Galal N, Bejaoui M, Barbouche MR, Geha RS, Chatila TA, Grimbacher B. Engelhardt KR, et al. Among authors: barbouche mr. J Allergy Clin Immunol. 2015 Aug;136(2):402-12. doi: 10.1016/j.jaci.2014.12.1945. Epub 2015 Feb 25. J Allergy Clin Immunol. 2015. PMID: 25724123 Free PMC article.
107 results