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The role of genetics in refractory immune thrombocytopenia.
Zehnder, James L; Bussel, James B; Cooper, Nichola.
Afiliação
  • Zehnder JL; Department of Pathology and Medicine, Stanford University School of Medicine, Stanford, California, USA.
  • Bussel JB; Division of Hematology/Oncology, Department of Pediatrics, Weill Cornell Medicine, New York, New York, USA.
  • Cooper N; Centre for Haematology, Department of Immunology and Inflammation, Imperial College London, London, UK.
Br J Haematol ; 203(1): 62-64, 2023 10.
Article em En | MEDLINE | ID: mdl-37735556
ABSTRACT
Patients with refractory immune thrombocytopenia (rITP) have increased morbidity and mortality. Currently, there is limited understanding of the cause of refractoriness and no markers to help direct novel treatment options. Understanding the reason(s) for refractoriness is crucial to determining novel treatment options. The pathogenesis underlying rITP has generally been thought to be an underlying genetic predisposition with an environmental trigger. Familial ITP remains rare, and there are few twin studies, suggesting that a simple genetic cause is unlikely. However, genetic mutations provide the background for several autoimmune diseases. In this review, we explore the evidence of either an inherited genetic cause of rITP or an acquired mutation, in particular one resulting in clonal expansion of cytotoxic T cells.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Púrpura Trombocitopênica Idiopática Limite: Humans Idioma: En Revista: Br J Haematol Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Púrpura Trombocitopênica Idiopática Limite: Humans Idioma: En Revista: Br J Haematol Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos