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Article

Evans syndrome caused by a deleterious mutation affecting the adaptor protein SASH3.

British journal of haematology - 1 Nov 2023

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 excerpt

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...

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Identifiers

PMID: 37646304
DOI: 10.1111/bjh.19061

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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