The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis
The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis
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DOI：
10.3324/haematol.2014.121608
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发表时间：
2015-06-01
期刊：
影响因子：
10.1
通讯作者：
Ehl, Stephan
中科院分区：
文献类型：
--
作者：
Bode, Sebastian F. N.;Ammann, Sandra;Ehl, Stephan
噬血细胞性淋巴组织细胞增生症是一种由临床和实验室标准定义的高度炎症综合征。目前的标准是用来鉴别家族性噬血细胞性淋巴组织细胞增生症患者是否需要立即进行免疫抑制治疗。然而，这些标准也确定了感染相关的噬血细胞炎性状态的患者缺乏典型的易感噬血细胞性淋巴组织细胞增多症的遗传缺陷。这些患者包括那些原发性免疫缺陷，其中的炎症综合征的发病机制可能是独特的和积极的免疫抑制是禁忌。为了更好地表征与免疫缺陷相关的噬血细胞炎症，我们结合了一项国际调查和文献检索，确定了63例原发性免疫缺陷（细胞毒性缺陷或X连锁淋巴组织增生性疾病除外）患者，这些患者的病情符合噬血细胞淋巴组织细胞增生症的现行标准。12名患者患有严重的联合免疫缺陷，
Hemophagocytic lymphohistiocytosis is a hyperinflammatory syndrome defined by clinical and laboratory criteria. Current criteria were created to identify patients with familial hemophagocytic lmyphohistiocytosis in immediate need of immunosuppressive therapy. However, these criteria also identify patients with infection-associated hemophagocytic inflammatory states lacking genetic defects typically predisposing to hemophagocytic lymphohistiocytosis. These patients include those with primary immunodeficiencies, in whom the pathogenesis of the inflammatory syndrome may be distinctive and aggressive immunosuppression is contraindicated. To better characterize hemophagocytic inflammation associated with immunodeficiencies, we combined an international survey with a literature search and identified 63 patients with primary immunodeficiencies other than cytotoxicity defects or X-linked lymphoproliferative disorders, presenting with conditions fulfilling current criteria for hemophagocytic lymphohistiocytosis. Twelve patients had severe combined immunodeficiency with