Pediatric-onset Evans syndrome : Heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations

Bibliographische Detailangaben
Veröffentlicht in:	Clinical immunology (Orlando, Fla.). - 1999. - 188(2018) vom: 15. März, Seite 52-57
1. Verfasser:	Besnard, Caroline (VerfasserIn)
Weitere Verfasser:	Levy, Eva, Aladjidi, Nathalie, Stolzenberg, Marie-Claude, Magerus-Chatinet, Aude, Alibeu, Olivier, Nitschke, Patrick, Blanche, Stéphane, Hermine, Olivier, Jeziorski, Eric, Landman-Parker, Judith, Leverger, Guy, Mahlaoui, Nizar, Michel, Gérard, Pellier, Isabelle, Suarez, Felipe, Thuret, Isabelle, de Saint-Basile, Geneviève, Picard, Capucine, Fischer, Alain, Neven, Bénédicte, Rieux-Laucat, Frédéric, Quartier, Pierre, Members of the French reference center for pediatric autoimmune cytopenias (CEREVANCE)
Format:	Online-Aufsatz
Sprache:	English
Veröffentlicht:	2018
Zugriff auf das übergeordnete Werk:	Clinical immunology (Orlando, Fla.)
Schlagworte:	Journal Article Research Support, Non-U.S. Gov't Autoimmune cytopenias Extensive genetic screening Immune checkpoint deficiencies LRBA and CTLA-4 deficiencies Adaptor Proteins, Signal Transducing CTLA-4 Antigen CTLA4 protein, human LRBA protein, human EC 2.7.10.-

Beschreibung
Zusammenfassung:	Copyright © 2018 Elsevier Inc. All rights reserved. Evans syndrome (ES) is defined by the combination of autoimmune hemolytic anemia and immune thrombocytopenia. Clinical presentation includes manifestations of immune dysregulation, found in primary immune deficiencies, autoimmune lymphoproliferative syndrome with FAS (ALPS-FAS), Cytotoxic T Lymphocyte Antigen-4 (CTLA-4) and Lipopolysaccharide-Responsive vesicle trafficking Beige-like and Anchor protein (LRBA) defects. We report the clinical history and genetic results of 18 children with ES after excluding ALPS-FAS. Thirteen had organomegaly, five lymphocytic infiltration of non-lymphoid organs, nine hypogammaglobulinemia and fifteen anomalies in lymphocyte phenotyping. Seven patients had genetic defects: three CTLA4 mutations (c.151C>T; c.109+1092_568-512del; c.110-2A>G) identified by Sanger sequencing and four revealed by Next Generation Sequencing: LRBA (c.2450+1C>T), STAT3 gain-of-function (c.2147C>T; c.2144C>T) and KRAS (c.37G>T). No feature emerged to distinguish patients with or without genetic diagnosis. Our data on pediatric-onset ES should prompt physicians to perform extensive screening for mutations in the growing pool of genes involved in primary immune deficiencies with autoimmunity
Beschreibung:	Date Completed 22.04.2019 Date Revised 30.03.2022 published: Print-Electronic Citation Status MEDLINE
ISSN:	1521-7035
DOI:	10.1016/j.clim.2017.12.009