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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. 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.
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.
Genetic Approaches for Definitive Diagnosis of Agammaglobulinemia in Consanguineous Families.
Ben-Ali M, Kechout N, Mekki N, Yang J, Chan KW, Barakat A, Aadam Z, Gamara J, Gargouri L, Largueche B, BelHadj-Hmida N, Nedri A, Ameur HB, Mellouli F, Boukari R, Bejaoui M, Bousfiha A, Ben-Mustapha I, Lau YL, Barbouche MR. Ben-Ali M, et al. Among authors: ben mustapha i. J Clin Immunol. 2020 Jan;40(1):96-104. doi: 10.1007/s10875-019-00706-4. Epub 2019 Nov 6. J Clin Immunol. 2020. PMID: 31696364
Case Report: FOXP3 Mutation in a Patient Presenting With ALPS.
Rais A, Mekki N, Fedhila F, Alosaimi MF, Ben Khaled M, Zameli A, Agrebi N, Sellami MK, Geha R, Ben-Mustapha I, Barbouche MR. Rais A, et al. Among authors: ben mustapha i. Front Immunol. 2021 Aug 31;12:692107. doi: 10.3389/fimmu.2021.692107. eCollection 2021. Front Immunol. 2021. PMID: 34531853 Free PMC article.
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