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024 7 |a 10.1016/j.clim.2017.12.009  |2 doi 
028 5 2 |a pubmed24n0933.xml 
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041 |a eng 
100 1 |a Besnard, Caroline  |e verfasserin  |4 aut 
245 1 0 |a Pediatric-onset Evans syndrome  |b Heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations 
264 1 |c 2018 
336 |a Text  |b txt  |2 rdacontent 
337 |a ƒaComputermedien  |b c  |2 rdamedia 
338 |a ƒa Online-Ressource  |b cr  |2 rdacarrier 
500 |a Date Completed 22.04.2019 
500 |a Date Revised 30.03.2022 
500 |a published: Print-Electronic 
500 |a Citation Status MEDLINE 
520 |a Copyright © 2018 Elsevier Inc. All rights reserved. 
520 |a 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 
650 4 |a Journal Article 
650 4 |a Research Support, Non-U.S. Gov't 
650 4 |a Autoimmune cytopenias 
650 4 |a Extensive genetic screening 
650 4 |a Immune checkpoint deficiencies 
650 4 |a LRBA and CTLA-4 deficiencies 
650 7 |a Adaptor Proteins, Signal Transducing  |2 NLM 
650 7 |a CTLA-4 Antigen  |2 NLM 
650 7 |a CTLA4 protein, human  |2 NLM 
650 7 |a LRBA protein, human  |2 NLM 
650 7 |a EC 2.7.10.-  |2 NLM 
700 1 |a Levy, Eva  |e verfasserin  |4 aut 
700 1 |a Aladjidi, Nathalie  |e verfasserin  |4 aut 
700 1 |a Stolzenberg, Marie-Claude  |e verfasserin  |4 aut 
700 1 |a Magerus-Chatinet, Aude  |e verfasserin  |4 aut 
700 1 |a Alibeu, Olivier  |e verfasserin  |4 aut 
700 1 |a Nitschke, Patrick  |e verfasserin  |4 aut 
700 1 |a Blanche, Stéphane  |e verfasserin  |4 aut 
700 1 |a Hermine, Olivier  |e verfasserin  |4 aut 
700 1 |a Jeziorski, Eric  |e verfasserin  |4 aut 
700 1 |a Landman-Parker, Judith  |e verfasserin  |4 aut 
700 1 |a Leverger, Guy  |e verfasserin  |4 aut 
700 1 |a Mahlaoui, Nizar  |e verfasserin  |4 aut 
700 1 |a Michel, Gérard  |e verfasserin  |4 aut 
700 1 |a Pellier, Isabelle  |e verfasserin  |4 aut 
700 1 |a Suarez, Felipe  |e verfasserin  |4 aut 
700 1 |a Thuret, Isabelle  |e verfasserin  |4 aut 
700 1 |a de Saint-Basile, Geneviève  |e verfasserin  |4 aut 
700 1 |a Picard, Capucine  |e verfasserin  |4 aut 
700 1 |a Fischer, Alain  |e verfasserin  |4 aut 
700 1 |a Neven, Bénédicte  |e verfasserin  |4 aut 
700 1 |a Rieux-Laucat, Frédéric  |e verfasserin  |4 aut 
700 1 |a Quartier, Pierre  |e verfasserin  |4 aut 
700 0 |a Members of the French reference center for pediatric autoimmune cytopenias (CEREVANCE)  |e verfasserin  |4 aut 
773 0 8 |i Enthalten in  |t Clinical immunology (Orlando, Fla.)  |d 1999  |g 188(2018) vom: 15. März, Seite 52-57  |w (DE-627)NLM098196855  |x 1521-7035  |7 nnns 
773 1 8 |g volume:188  |g year:2018  |g day:15  |g month:03  |g pages:52-57 
856 4 0 |u http://dx.doi.org/10.1016/j.clim.2017.12.009  |3 Volltext 
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