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Page 1
Autoantibodies in patients with interleukin 12 receptor beta 1 deficiency.
Ronca V, Chen QB, Lygoura V, Ben-Mustapha I, Shums Z, Trifa M, Carbone M, Mancuso C, Milani C, Bernuzzi F, Ma X, Agrebi N, Norman GL, Chang C, Gershwin ME, Barbouche MR, Invernizzi P. Ronca V, et al. Among authors: barbouche mr. J Dig Dis. 2019 Jul;20(7):363-370. doi: 10.1111/1751-2980.12790. Epub 2019 Jul 10. J Dig Dis. 2019. PMID: 31111679
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.
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.
[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: barbouche mr. 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.
Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients.
Ouadani H, Ben-Mustapha I, Ben-ali M, Ben-khemis L, Larguèche B, Boussoffara R, Maalej S, Fetni I, Hassayoun S, Mahfoudh A, Mellouli F, Yalaoui S, Masmoudi H, Bejaoui M, Barbouche MR. Ouadani H, et al. Among authors: barbouche mr. Immunogenetics. 2016 Jan;68(1):19-28. doi: 10.1007/s00251-015-0878-6. Epub 2015 Nov 6. Immunogenetics. 2016. PMID: 26545377
107 results