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Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations.
Besnard C, Levy E, Aladjidi N, Stolzenberg MC, Magerus-Chatinet A, Alibeu O, Nitschke P, Blanche S, Hermine O, Jeziorski E, Landman-Parker J, Leverger G, Mahlaoui N, Michel G, Pellier I, Suarez F, Thuret I, de Saint-Basile G, Picard C, Fischer A, Neven B, Rieux-Laucat F, Quartier P; Members of the French reference center for pediatric autoimmune cytopenias (CEREVANCE). Besnard C, et al. Clin Immunol. 2018 Mar;188:52-57. doi: 10.1016/j.clim.2017.12.009. Epub 2018 Jan 10. Clin Immunol. 2018. PMID: 29330115
Genetic studies in severe combined immunodeficiency.
de Saint Basile G, di Santo JP, Fischer A. de Saint Basile G, et al. Clin Immunol Immunopathol. 1995 Sep;76(3 Pt 2):S165-7. doi: 10.1016/s0090-1229(95)90090-x. Clin Immunol Immunopathol. 1995. PMID: 7554461 Review. No abstract available.
Hyper-IgM syndrome.
Di Santo JP, de Saint Basile G, Durandy A, Fischer A. Di Santo JP, et al. Res Immunol. 1994 Mar-Apr;145(3):205-9; discussion 244-9. doi: 10.1016/s0923-2494(94)80185-1. Res Immunol. 1994. PMID: 7991944 Review. No abstract available.
230 results