The T348M mutated form of cryopyrin is associated with defective lipopolysaccharide-induced interleukin 10 production in CINCA syndrome.
The T348M mutated form of cryopyrin is associated with defective lipopolysaccharide-induced interleukin 10 production in CINCA syndrome.
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T348M 突变型冷热蛋白与 CINCA 综合征中脂多糖诱导的白细胞介素 10 产生缺陷有关。
DOI：
10.1136/ard.2004.031179
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发表时间：
2005
影响因子：
27.4
通讯作者：
Simon,HU
中科院分区：
文献类型：
--
作者：
Bihl,T;Vassina,E;Boettger,MK;Goldbach-Mansky,R;Seitz,M;Villiger,PM;Simon,HU
方法和证据我们使用从全血中提取的基因组DNA鉴定了一例CINCA综合征患者，该患者的cryopyrin基因存在T348 M突变，如前所述。由于cryopyrin主要在单核细胞和中性粒细胞中表达，我们在三个时间点使用该患者的血液白细胞进行了体外功能测试（表1）：中度炎症活动（9.59× 109血中性粒细胞/l）; B.高炎症活性（14.950× 109/l）;低炎症活性（5.47× 109/l）。除时间点C（300 mg英夫利西单抗）外，患者未接受免疫抑制药物治疗。
METHODS AND RESULTSWe identified a patient with CINCA syndrome who had a T348M mutation of the cryopyrin gene using genomic DNA extracted from whole blood, as described previously. 1 Because cryopyrin is largely expressed in monocytes and neutrophils, we performed functional in vitro tests using blood leucocytes of this patient (table 1) at three time points: A. medium inflammatory activity (9.59× 10 9 blood neutrophils/l); B. high inflammatory activity (14.950× 10 9/l); and C. low inflammatory activity (5.47× 10 9/l). The patient did not receive immunosuppressive drug treatment except at time point C (300 mg infliximab).