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- Title
Evans syndrome caused by a deleterious mutation affecting the adaptor protein SASH3.
- Authors
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
- 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.
- Subjects
ADAPTOR proteins; REGULATORY T cells; AUTOIMMUNE hemolytic anemia; T-cell exhaustion; IDIOPATHIC thrombocytopenic purpura; GENETIC mutation
- Publication
British Journal of Haematology, 2023, Vol 203, Issue 4, p678
- ISSN
0007-1048
- Publication type
Article
- DOI
10.1111/bjh.19061