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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. 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.
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.
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. 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
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. 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.
43 results