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Br J Haematol ; 203(4): 678-683, 2023 11.
Artículo en Inglés | MEDLINE | ID: mdl-37646304

RESUMEN

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 CD21low T-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.


Asunto(s)
Anemia Hemolítica Autoinmune , Púrpura Trombocitopénica Idiopática , Trombocitopenia , Masculino , Humanos , Anemia Hemolítica Autoinmune/genética , Trombocitopenia/genética , Mutación
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