Abstract：
Hematopoietic cells are instrumental in generating and propagating protective inflammatory responses to infection or injury. However, excessive inflammation contributes to many diseases of the blood, bone marrow, and lymphatic system. We review three clinical categories of hematological inflammatory diseases in which recent clinical and translational advances have been made. The first category is monogenic inflammatory diseases. Genotype-driven research has revealed that previously mysterious diseases with protean manifestations are characterized by mutations that may be germline (e.g., deficiency of ADA2 or GATA2 deficiency) or somatic [e.g., vacuoles, enzyme E1, X-linked, autoinflammatory, somatic (VEXAS) syndrome]. The second category is the cytokine storm syndromes, including hemophagocytic lymphohistiocytosis, and Castleman disease. Cytokine storm syndromes are characterized by excessive production of inflammatory cytokines including interleukin-6 and interferon-γ, causing end-organ damage and high mortality. Finally, we review disorders associated with monoclonal and polyclonal hypergammaglobulinemia. The serum protein electrophoresis (SPEP) is typically ordered to screen for common diseases such as myeloma and humoral immunodeficiency. However, monoclonal and polyclonal hypergammaglobulinemia on SPEP can also provide important information in rare inflammatory diseases. For example, the autoinflammatory disease Schnitzler syndrome is notoriously difficult to diagnose. Although this orphan disease has eluded precise genetic or histological characterization, the presence of a monoclonal paraprotein, typically IgM, is an obligate diagnostic criterion. Likewise, polyclonal hypergammaglobulinemia may be an important early, noninvasive diagnostic clue for patients presenting with rare neoplastic diseases such as Rosai-Dorfman disease and angioimmunoblastic T-cell lymphoma. Applying these three categories to patients with unexplained inflammatory syndromes can facilitate the diagnosis of rare and underrecognized diseases.
摘要：
造血细胞有助于产生和传播对感染或损伤的保护性炎症反应。然而,过度的炎症会导致许多血液疾病，骨髓,和淋巴系统。我们回顾了三种临床类型的血液炎症性疾病，其中最近的临床和转化进展已经取得。第一类是单基因炎性疾病。基因型驱动的研究表明，以前具有蛋白质表现的神秘疾病的特征是可能是种系的突变（例如，ADA2缺乏症或GATA2缺乏症)或体细胞[例如，空泡,酶E1，X连接，自身炎症,躯体(VEXAS)综合征]。第二类是细胞因子风暴综合征，包括噬血细胞淋巴组织细胞增生症，和Castleman病.细胞因子风暴综合征的特征是炎性细胞因子的过度产生，包括白细胞介素-6和干扰素-γ，导致终末器官损伤和高死亡率。最后,我们回顾了与单克隆和多克隆高球蛋白血症相关的疾病。血清蛋白电泳（SPEP）通常用于筛选骨髓瘤和体液免疫缺陷等常见疾病。然而,SPEP上的单克隆和多克隆高丙种球蛋白血症也可以在罕见的炎症性疾病中提供重要信息。例如,众所周知，自身炎症性疾病Schnitzler综合征难以诊断。尽管这种孤儿病没有精确的遗传或组织学特征，单克隆副蛋白的存在，通常是IgM,是一个强制性的诊断标准。同样，多克隆高丙种球蛋白血症可能是一个重要的早期，出现罕见肿瘤疾病如Rosai-Dorfman病和血管免疫母细胞性T细胞淋巴瘤的患者的非侵入性诊断线索。将这三个类别应用于无法解释的炎症综合征患者可以促进对罕见和未被识别的疾病的诊断。
