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- W4229042110 abstract "The term “Evans syndrome (ES)” denotes a heterogeneous group of hematologic conditions, characterized and defined by two or more autoimmune cytopenias, with mostly unknown pathogenic mechanisms. Increasing attention has been drawn to the underlying immunopathology, expanding the clinical phenotype beyond autoimmune hemolytic anemia (AIHA), immune thrombocytopenia (ITP), and autoimmune neutropenia (AIN). It is recognized increasingly that ES may actually represent the initial or predominant disease characteristic in pediatric patients with defined inborn errors of immunity (IEIs). The identification and molecular characterization of IEIs has tremendously broadened our knowledge and understanding of biological processes far beyond rare diseases. Whereas the pathogenesis of ES most likely includes a vast spectrum of different pathogenic processes, the identification and characterisation of monogenic defects presenting with ES may help to enhance our understanding and even pinpoint a common pathogenic mechanism in this heterogenous disease entity." @default.
- W4229042110 created "2022-05-08" @default.
- W4229042110 creator A5040086490 @default.
- W4229042110 date "2022-04-01" @default.
- W4229042110 modified "2023-09-25" @default.
- W4229042110 title "Evans syndrome and phenotypic heterogeneity of SASH3 germline loss-of-function mutations beyond X-linked immunodeficiency" @default.
- W4229042110 doi "https://doi.org/10.1055/s-0042-1744081" @default.
- W4229042110 hasPublicationYear "2022" @default.
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