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![loading](/sites/all/modules/hf_eds/images/loading.gif)
Evans syndrome caused by a deleterious mutation affecting the adaptor protein SASH3.
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- Author(s): Novak, Wolfgang; Berner, Jakob; Svaton, Michael; Jimenez‐Heredia, Raul; Segarra‐Roca, Anna; Frohne, Alexandra; Guiliani, Sarah; Rouhani, David; Eder, Sebastian K.; Rottal, Arno; Trapin, Doris; Scheuchenstuhl, Anja; Pickl, Winfried F.; Simonitsch‐Klupp, Ingrid; Kager, Leo; Boztug, Kaan
- Source:
British Journal of Haematology; Nov2023, Vol. 203 Issue 4, p678-683, 6p- Subject Terms:
- Source:
- Additional Information
- Abstract: Summary: Increasing evidence suggests multilineage cytopenias (also known as Evans syndrome) may be caused by inborn errors of immunity (IEI) with immune dysregulation. We studied a patient with autoimmune haemolytic anaemia and immune thrombocytopenia and identified a germline mutation in SASH3 (c.862C>T;p.Arg288Ter), indicating a recently identified IEI. Immunohistochemistry performed after clinically indicated splenectomy revealed severe hypoplasia/absence of germinal centres. The autoimmune phenotype was associated with an increased CD21lowT‐bet+CD11c+ subset along with decreased regulatory T cells, impaired T‐cell proliferation and T‐cell exhaustion. The younger brother carries the same SASH3 mutation and shares immunophenotypic features but is currently clinical asymptomatic, indicating heterogeneity of SASH3 deficiency. [ABSTRACT FROM AUTHOR]
- Abstract: Copyright of British Journal of Haematology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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