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Diagnostic challenge in a series of eleven patients with hyper IgE syndromes.
Front Immunol. 2023 Jan 10;13:1057679. doi: 10.3389/fimmu.2022.1057679. eCollection 2022.
Front Immunol. 2023.
PMID: 36703986
Free PMC article.
Defective glycosylation leads to defective gp130-dependent STAT3 signaling in PGM3-deficient patients.
Ben-Ali M, Ben-Khemis L, Mekki N, Yaakoubi R, Ouni R, Benabdessalem C, Ben-Mustapha I, Barbouche MR.
Ben-Ali M, et al. Among authors: ben khemis l.
J Allergy Clin Immunol. 2019 Apr;143(4):1638-1640.e2. doi: 10.1016/j.jaci.2018.12.987. Epub 2018 Dec 19.
J Allergy Clin Immunol. 2019.
PMID: 30578875
Free article.
No abstract available.
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A founder mutation underlies a severe form of phosphoglutamase 3 (PGM3) deficiency in Tunisian patients.
Ben-Khemis L, Mekki N, Ben-Mustapha I, Rouault K, Mellouli F, Khemiri M, Bejaoui M, Essaddam L, Ben-Becher S, Boughamoura L, Hassayoun S, Ben-Ali M, Barbouche MR.
Ben-Khemis L, et al.
Mol Immunol. 2017 Oct;90:57-63. doi: 10.1016/j.molimm.2017.06.248. Epub 2017 Jul 10.
Mol Immunol. 2017.
PMID: 28704707
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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
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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. 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.
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