Mutations in FLG, the gene‐coding profilaggrin/filaggrin, are associated with putative hay fever in patients with atopic dermatitis.
Mutations in FLG, the gene‐coding profilaggrin/filaggrin, are associated with putative hay fever in patients with atopic dermatitis.
复制标题
FLG（基因编码聚丝蛋白原/聚丝蛋白）的突变与特应性皮炎患者的假定花粉热有关。
DOI：
10.1002/cia2.12125
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发表时间：
2020
影响因子：
1
通讯作者：
Sawamura D.
中科院分区：
文献类型：
--
作者：
Minakawa S;Matsuzaki Y;Suwa H. Kono M;Akiyama M;Sawamura D.
编码聚丝蛋白原/聚丝蛋白（FLG）的基因突变是AD的易感因素。2胸腺和活化调节趋化因子/C-C基序趋化因子配体17（TARC/CCL17），组成性表达于胸腺，由树突状细胞、内皮细胞、角质形成细胞和成纤维细胞产生，是一种与C-C趋化因子受体4结合的Th2型趋化因子。在28例AD患者中，5例为10种FLG突变之一的携带者（表1）。[...]发病率为17.9%。表4，51本研究中AD患者的详细临床和实验室资料患者性别年龄（岁）家族史DNA序列变异IgE（IU/mL）TARC（pg/mL）既往史1 F 9 + c. 5368C> T 469 247花粉热，面部单纯糠疹2 M 42 − c. 7661C> G 8981 1709花粉热3 M 12 + c. 8666_7 CC> GA 11 588 877哮喘、花粉热、慢性扁桃体炎、川崎。4 M 21 − c。8666_7CC> GA 2385 27 700术后白内障手术5 F 44 − c. 8666_7CC> GA 535 293哮喘，单纯疱疹6 F3 −未检出1430 706食物过敏（鸡蛋）7 F7 −未检出144 1997传染性软疣8 F8+未检出46 720）9 M10+未检出270 1900 10 F12 +未检出370 622斑秃11男性14 −未检出16 903 7190花粉热12女性16+未检出1124 438食物过敏（桃子）13男性17 +未检出5077 564哮喘14 M 17 −未检出16 476 707 15 M 20 −未检出5737 1020 16 F 23+未检出17 250食物过敏（鸡蛋，番茄）17 M 29+未检出1896 1759 18 M 29 −未检出225 382表皮囊肿（腋窝）19 M 35 −未检出959 574蜂窝组织炎（右大腿下部）20 F 38 −未检出32 13 790贫血、单纯疱疹、大动脉炎21 F 39 −未检出295 1096乳腺癌术后，精神分裂症22 M 41 −未检出4104 717白内障手术后23 F 41 −未检出993 6945肾病综合征24 F 41 −未检出14 349 547单纯疱疹、高血压、甲状腺功能亢进、脂肪瘤26 M 44 −未检出992 136斑秃26 F 44 −未检出460 1939斑秃27 M 44+未检出439 846花粉症28 F 45+未检出284 632斑秃、花粉症在AD患者中，SC中丝氨酸蛋白酶活性与血清总IgE呈正相关。1FLG基因突变患者的IgE水平虽高于正常参考值，但与TARC、FLG基因突变患者的IgE水平无统计学差异。
Mutations in the gene encoding profilaggrin/filaggrin, FLG, are a predisposing factor for AD. 2 Thymus and activation‐regulated chemokine/C‐C motif chemokine ligand 17 (TARC/CCL17), constitutively expressed in the thymus and produced by dendritic cells, endothelial cells, keratinocytes and fibroblasts, is a designated Th2 type chemokine binding to C‐C chemokine receptor 4. Of the 28 AD patients, 5 were carriers of one of 10 FLG mutations (Table 1).[...] the incidence rate was 17.9%. 4, 5 1 TableDetailed clinical and laboratory data of the AD patients involved in the present study Patient Sex Age (year) Family history DNA Sequence Variant IgE (IU/mL) TARC (pg/mL) Past history 1 F 9+ c. 5368C> T 469 247 Hay fever, pityriasis simplex faciei 2 M 42− c. 7661C> G 8981 1709 Hay fever 3 M 12+ c. 8666_7CC> GA 11 588 877 Asthma, hay fever, chronic tonsillitis, Kawasaki disease. 4 M 21− c. 8666_7CC> GA 2385 27 700 Postoperative cataract surgery 5 F 44− c. 8666_7CC> GA 535 293 Asthma, herpes simplex 6 F 3− Not detected 1430 706 Food allergy (egg) 7 F 7− Not detected 144 1997 Molluscum contagiosum 8 F 8+ Not detected 46 720) 9 M 10+ Not detected 270 1900 10 F 12+ Not detected 370 622 Alopecia areata 11 M 14− Not detected 16 903 7190 Hay fever 12 F 16+ Not detected 1124 438 Food allergy (peach) 13 M 17+ Not detected 5077 564 Asthma 14 M 17− Not detected 16 476 707 15 M 20− Not detected 5737 1020 16 F 23+ Not detected 17 250 Food allergy (egg, tomato) 17 M 29+ Not detected 1896 1759 18 M 29− Not detected 225 382 Epidermal cyst (axilla) 19 M 35− Not detected 959 574 Cellulitis (right lower thigh) 20 F 38− Not detected 32 13 790 Anemia, herpes simplex, Takayasu arteritis 21 F 39− Not detected 295 1096 Postoperative breast cancer, schizophrenia 22 M 41− Not detected 4104 717 Postoperative cataract surgery 23 F 41− Not detected 993 6945 Nephrotic syndrome 24 F 41− Not detected 14 349 547 Herpes simplex, Hypertension, hyperthyroidism, lipoma 26 M 44− Not detected 992 136 Alopecia areata 26 F 44− Not detected 460 1939 Alopecia areata 27 M 44+ Not detected 439 846 Hay fever 28 F 45+ Not detected 284 632 Alopecia areata, hay fever In AD patients, there was a positive correlation between the serine protease activity in the SC and the total serum IgE. 1 Although the IgE of patients with FLG mutations exceeded the reference values, there is not the statistical significant difference between IgE, TARC, and FLG mutations.