Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8721370 | Clinical Immunology | 2018 | 33 Pages |
Abstract
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.151CÂ >Â T; c.109Â +Â 1092_568-512del; c.110-2AÂ >Â G) identified by Sanger sequencing and four revealed by Next Generation Sequencing: LRBA (c.2450Â +Â 1CÂ >Â T), STAT3 gain-of-function (c.2147CÂ >Â T; c.2144CÂ >Â T) and KRAS (c.37GÂ >Â 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.
Keywords
RaldV-Ki-ras2 Kirsten rat sarcoma viral oncogene homologCTLA-4KRASNGSPIDPrimary immune deficienciesLRBATregAIHASTAT3WESantibodiescytotoxic T lymphocyte antigen-4immunoglobulin Immune thrombocytopeniaNext generation sequencingWhole exome sequencingAlpsRegulatory T-cellEvans syndromeautoimmune lymphoproliferative syndromeAutoimmune cytopeniassignal transducer and activator of transcription 3ITPpolymerase chain reactionPCRAutoimmune hemolytic anemia
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Authors
Caroline Besnard, Eva Levy, Nathalie Aladjidi, Marie-Claude Stolzenberg, Aude Magerus-Chatinet, Olivier Alibeu, Patrick Nitschke, Stéphane Blanche, Olivier Hermine, Eric Jeziorski, Judith Landman-Parker, Guy Leverger, Nizar Mahlaoui, Gérard Michel,