Sustained elevation of serum interleukin-18 and its association with hemophagocytic lymphohistiocytosis in XIAP deficiency
Sustained elevation of serum interleukin-18 and its association with hemophagocytic lymphohistiocytosis in XIAP deficiency
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DOI：
10.1016/j.cyto.2013.09.007
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发表时间：
2014-01-01
期刊：
影响因子：
3.8
通讯作者：
Yachie, Akihiro
中科院分区：
文献类型：
--
作者：
Wada, Taizo;Kanegane, Hirokazu;Yachie, Akihiro
X连锁淋巴组织增生综合征（XLP）是一种罕见的原发性免疫缺陷，其特征是对EB病毒感染的易感性增加。1型XLP由SH 2D 1A突变引起，而XIAP/BIRC 4编码的X连锁凋亡抑制剂（XIAP）在2型XLP中突变。在XIAP缺乏症中，噬血细胞性淋巴组织细胞增生症（HLH）更常见，复发也很常见。然而，其潜在机制大多仍不清楚。我们描述了10个XIAP缺陷患者的血清样本的细胞因子谱的特点。白细胞介素（IL）-18（IL-18）的浓度在HLH患者中显著升高，并且在HLH恢复后仍然很高，尽管其他促炎细胞因子的水平接近正常范围。两名患者的纵向检查显示，在每次HLH时IL-18水平明显加重。这些发现可能提示XIAP缺乏症患者HLH易感性与血清IL-18水平升高有关。(C)2013爱思唯尔有限公司保留所有权利。
X-linked lymphoproliferative syndrome (XLP) is a rare primary immunodeficiency characterized by increased vulnerability to Epstein-Barr virus infection. XLP type 1 is caused by mutations in SH2D1A, whereas X-linked inhibitor of apoptosis (XIAP) encoded by XIAP/BIRC4 is mutated in XLP type 2. In XIAP deficiency, hemophagocytic lymphohistiocytosis (HLH) occurs more frequently and recurrence is common. However, the underlying mechanisms remain mostly unknown. We describe the characteristics of the cytokine profiles of serum samples from 10 XIAP-deficient patients. The concentration of interleukin (IL)-18 was strikingly elevated in the patients presented with HLH, and remained high after the recovery from HLH although levels of other pro-inflammatory cytokines approached the normal range. Longitudinal examination of two patients demonstrated marked exacerbation of IL-18 levels during every occasion of HLH. These findings may suggest the association between HLH susceptibility and high serum IL-18 levels in XIAP deficiency. (C) 2013 Elsevier Ltd. All rights reserved.