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Human MSH6 deficiency is associated with impaired antibody maturation.
Gardès P, Forveille M, Alyanakian MA, Aucouturier P, Ilencikova D, Leroux D, Rahner N, Mazerolles F, Fischer A, Kracker S, Durandy A. Gardès P, et al. Among authors: forveille m. J Immunol. 2012 Feb 15;188(4):2023-9. doi: 10.4049/jimmunol.1102984. Epub 2012 Jan 16. J Immunol. 2012. PMID: 22250089
An inherited immunoglobulin class-switch recombination deficiency associated with a defect in the INO80 chromatin remodeling complex.
Kracker S, Di Virgilio M, Schwartzentruber J, Cuenin C, Forveille M, Deau MC, McBride KM, Majewski J, Gazumyan A, Seneviratne S, Grimbacher B, Kutukculer N, Herceg Z, Cavazzana M, Jabado N, Nussenzweig MC, Fischer A, Durandy A. Kracker S, et al. Among authors: forveille m. J Allergy Clin Immunol. 2015 Apr;135(4):998-1007.e6. doi: 10.1016/j.jaci.2014.08.030. Epub 2014 Oct 11. J Allergy Clin Immunol. 2015. PMID: 25312759 Free PMC article.
Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2).
Revy P, Muto T, Levy Y, Geissmann F, Plebani A, Sanal O, Catalan N, Forveille M, Dufourcq-Labelouse R, Gennery A, Tezcan I, Ersoy F, Kayserili H, Ugazio AG, Brousse N, Muramatsu M, Notarangelo LD, Kinoshita K, Honjo T, Fischer A, Durandy A. Revy P, et al. Among authors: forveille m. Cell. 2000 Sep 1;102(5):565-75. doi: 10.1016/s0092-8674(00)00079-9. Cell. 2000. PMID: 11007475 Free article.
14 results