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Page 1
Comprehensive review of autoantibodies in patients with hyper-IgM syndrome.
Barbouche MR, Chen Q, Carbone M, Ben-Mustapha I, Shums Z, Trifa M, Malinverno F, Bernuzzi F, Zhang H, Agrebi N, Norman GL, Chang C, Gershwin ME, Invernizzi P. Barbouche MR, et al. Cell Mol Immunol. 2018 Jun;15(6):610-617. doi: 10.1038/cmi.2017.140. Epub 2018 Feb 5. Cell Mol Immunol. 2018. PMID: 29400703 Free PMC article. Review.
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
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.
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
X-Linked Agammagobulinemia in a Large Series of North African Patients: Frequency, Clinical Features and Novel BTK Mutations.
Aadam Z, Kechout N, Barakat A, Chan KW, Ben-Ali M, Ben-Mustapha I, Zidi F, Ailal F, Attal N, Doudou F, Abbadi MC, Kaddache C, Smati L, Touri N, Chemli J, Gargah T, Brini I, Bakhchane A, Charoute H, Jeddane L, El Atiqi S, El Hafidi N, Hida M, Saile R, Alj HS, Boukari R, Bejaoui M, Najib J, Barbouche MR, Lau YL, Mellouli F, Bousfiha AA. Aadam Z, et al. Among authors: barbouche mr. J Clin Immunol. 2016 Apr;36(3):187-94. doi: 10.1007/s10875-016-0251-z. Epub 2016 Mar 1. J Clin Immunol. 2016. PMID: 26931785
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: barbouche mr. 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
Activation induced cytidine deaminase mutant (AID-His130Pro) from Hyper IgM 2 patient retained mutagenic activity on SHM artificial substrate.
Ouadani H, Ben-Mustapha I, Ben-Ali M, Larguèche B, Jovanic T, Garcia S, Arcangioli B, Elloumi-Zghal H, Fathallah D, Hachicha M, Masmoudi H, Rougeon F, Barbouche MR. Ouadani H, et al. Among authors: barbouche mr. Mol Immunol. 2016 Nov;79:77-82. doi: 10.1016/j.molimm.2016.09.025. Epub 2016 Oct 4. Mol Immunol. 2016. PMID: 27716525 Free article.
107 results