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Page 1
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. 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.
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: mekki n. Immunogenetics. 2014 Jan;66(1):67-71. doi: 10.1007/s00251-013-0739-0. Epub 2013 Oct 15. Immunogenetics. 2014. PMID: 24127073
[Auto-immune hepatitis in chronic granulomatous disease in a 2-year-old girl].
Gargouri L, Safi F, Mejdoub I, Maalej B, Mekki N, Mnif H, Ben Mustapha I, Barbouche MR, Boudawara T, Mahfoudh A. Gargouri L, et al. Among authors: mekki n. Arch Pediatr. 2015 May;22(5):518-22. doi: 10.1016/j.arcped.2015.02.003. Epub 2015 Mar 19. Arch Pediatr. 2015. PMID: 25800633 French.
Report of the Tunisian Registry of Primary Immunodeficiencies: 25-Years of Experience (1988-2012).
Mellouli F, Mustapha IB, Khaled MB, Besbes H, Ouederni M, Mekki N, Ali MB, Larguèche B, Hachicha M, Sfar T, Gueddiche N, Barsaoui S, Sammoud A, Boussetta K, Becher SB, Meherzi A, Guandoura N, Boughammoura L, Harbi A, Amri F, Bayoudh F, Jaballah NB, Tebib N, Bouaziz A, Mahfoudh A, Aloulou H, Mansour LB, Chabchoub I, Boussoffara R, Chemli J, Bouguila J, Hassayoun S, Hammami S, Habboul Z, Hamzaoui A, Ammar J, Barbouche MR, Bejaoui M. Mellouli F, et al. Among authors: mekki n. J Clin Immunol. 2015 Nov;35(8):745-53. doi: 10.1007/s10875-015-0206-9. Epub 2015 Oct 13. J Clin Immunol. 2015. PMID: 26464197 Review.
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Aldave Becerra JC, Ouachée-Chardin M, Fouyssac F, Girisha KM, Etzioni A, Van Montfrans J, Camcioglu Y, Kerns LA, Belohradsky B, Blanche S, Bousfiha A, Rodriguez-Gallego C, Meyts I, Kisand K, Reichenbach J, Renner ED, Rosenzweig S, Grimbacher B, van de Veerdonk FL, Traidl-Hoffmann C, Picard C, Marodi L, Morio T, Kobayashi M, Lilic D, Milner JD, Holland S, Casanova JL, Puel A; International STAT1 Gain-of-Function Study Group. Toubiana J, et al. Blood. 2016 Jun 23;127(25):3154-64. doi: 10.1182/blood-2015-11-679902. Epub 2016 Apr 25. Blood. 2016. PMID: 27114460 Free PMC article.
A Founder Effect of c.257 + 2T > C Mutation in NCF2 Gene Underlies Severe Chronic Granulomatous Disease in Eleven Patients.
Ben-Farhat K, Ben-Mustapha I, Ben-Ali M, Rouault K, Hamami S, Mekki N, Ben-Chehida A, Larguèche B, Fitouri Z, Abdelmoula S, Khemiri M, Guediche MN, Boukthir S, Barsaoui S, Chemli J, Barbouche MR. Ben-Farhat K, et al. Among authors: mekki n. J Clin Immunol. 2016 Aug;36(6):547-54. doi: 10.1007/s10875-016-0299-9. Epub 2016 May 25. J Clin Immunol. 2016. PMID: 27220316
Autoimmune lymphoproliferative syndrome caused by homozygous FAS mutations with normal or residual protein expression.
Agrebi N, Sfaihi Ben-Mansour L, Medhaffar M, Hadiji S, Fedhila F, Ben-Ali M, Mekki N, Hachicha M, Barsaoui S, Barbouche MR, Ben-Mustapha I. Agrebi N, et al. Among authors: mekki n. J Allergy Clin Immunol. 2017 Jul;140(1):298-301.e3. doi: 10.1016/j.jaci.2016.11.033. Epub 2017 Jan 10. J Allergy Clin Immunol. 2017. PMID: 28087326 No abstract available.
Homozygous transcription factor 3 gene (TCF3) mutation is associated with severe hypogammaglobulinemia and B-cell acute lymphoblastic leukemia.
Ben-Ali M, Yang J, Chan KW, Ben-Mustapha I, Mekki N, Benabdesselem C, Mellouli F, Bejaoui M, Yang W, Aissaoui L, Lau YL, Barbouche MR. Ben-Ali M, et al. Among authors: mekki n. J Allergy Clin Immunol. 2017 Oct;140(4):1191-1194.e4. doi: 10.1016/j.jaci.2017.04.037. Epub 2017 May 19. J Allergy Clin Immunol. 2017. PMID: 28532655 No abstract available.
49 results