Abstract

Primary immunodeficiency (PID) or Inborn errors of immunity (IEI) refers to a heterogeneous group of disorders characterized by immune system impairment. Although patients with IEI manifest highly variable symptoms, the most common clinical manifestations are recurrent infections, autoimmunity and malignancies. Some patients present hematological abnormality including thrombocytopenia due to different pathogenic mechanisms. This review focuses on primary and secondary thrombocytopenia as a complication, which can occur in IEI. Based on the International Union of Immunological Societies phenotypic classification for IEI, the several innate and adaptive immunodeficiency disorders can lead to thrombocytopenia. This review, for the first time, describes manifestation, mechanism and therapeutic modalities for thrombocytopenia in different classes of IEI.

摘要

原发性免疫缺陷 (PID) 或先天性免疫缺陷 (IEI) 是指以免疫系统受损为特征的一组异质性疾病。尽管 IEI 患者表现出高度可变的症状，但最常见的临床表现是反复感染、自身免疫和恶性肿瘤。由于不同的致病机制，一些患者会出现包括血小板减少在内的血液学异常。本综述重点关注 IEI 中可能发生的原发性和继发性血小板减少症作为一种并发症。根据国际免疫学会联合会对 IEI 的表型分类，几种先天性和适应性免疫缺陷疾病可导致血小板减少症。这篇评论第一次描述了表现形式，