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Diagnostic challenge in a series of eleven patients with hyper IgE syndromes.
Yaakoubi R, Mekki N, Ben-Mustapha I, Ben-Khemis L, Bouaziz A, Ben Fraj I, Ammar J, Hamzaoui A, Turki H, Boussofara L, Denguezli M, Haddad S, Ouederni M, Bejaoui M, Chan KW, Lau YL, Mellouli F, Barbouche MR, Ben-Ali M. Yaakoubi R, et al. Among authors: ben khemis l. Front Immunol. 2023 Jan 10;13:1057679. doi: 10.3389/fimmu.2022.1057679. eCollection 2022. Front Immunol. 2023. PMID: 36703986 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: ben khemis l. Immunogenetics. 2016 Jan;68(1):19-28. doi: 10.1007/s00251-015-0878-6. Epub 2015 Nov 6. Immunogenetics. 2016. PMID: 26545377
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: ben khemis l. 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.