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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: 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 Seven STAT3-Related Hyper-IgE Syndromes.
Fadil I, Ben-Ali M, Jeddane L, Barbouche MR, Bousfiha AA. Fadil I, et al. Among authors: barbouche mr. J Clin Immunol. 2021 Aug;41(6):1384-1389. doi: 10.1007/s10875-021-01041-3. Epub 2021 Apr 26. J Clin Immunol. 2021. PMID: 33903995 No abstract available.
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: barbouche mr. Front Immunol. 2023 Jan 10;13:1057679. doi: 10.3389/fimmu.2022.1057679. eCollection 2022. Front Immunol. 2023. PMID: 36703986 Free PMC 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.
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.
111 results