Clinical and genetic differences between pustular psoriasis subtypes.
Clinical and genetic differences between pustular psoriasis subtypes.
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DOI：
10.1016/j.jaci.2018.06.038
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发表时间：
2019-03
期刊：
影响因子：
--
通讯作者：
Capon F
中科院分区：
文献类型：
--
作者：
Twelves S;Mostafa A;Dand N;Burri E;Farkas K;Wilson R;Cooper HL;Irvine AD;Oon HH;Kingo K;Köks S;Mrowietz U;Puig L;Reynolds N;Tan ES;Tanew A;Torz K;Trattner H;Valentine M;Wahie S;Warren RB;Wright A;Bata-Csörgő Z;Szell M;Griffiths CEM;Burden AD;Choon SE;Smith CH;Barker JN;Navarini AA;Capon F
脓疱性牛皮癣指的是一组以中性粒细胞充盈的脓疱爆发为特征的严重皮肤病。该疾病常伴有寻常型银屑病，可表现为急性全身性（全身性脓疱性银屑病[GPP]）或慢性局部（掌跖脓疱病[PPP]和持续性埃洛珀肢端皮炎[ACH]）。尽管在IL36RN和AP1S3中发现了突变，但这种疾病的罕见性阻碍了基因型-表型相关性的研究。我们试图通过分析一个扩展的患者队列来描述脓疱性牛皮癣的临床和遗传特征。我们确定了一个前所未有的数据集，包括863名不相关的患者（251名GPP患者，560名PPP患者，28名ACH患者，24名多重诊断患者）。我们对473例患者进行了突变筛查。寻常型银屑病并发性在PPP组最低（GPP组为15.8%，GPP组为54.4%，ACH组为46.2%，P均< 0.0005），而GPP组平均发病年龄最早（PPP组为31.0岁，PPP组为43.7岁，ACH组为51.8岁，P均< 0.0001）。女性患者在PPP中的比例（77.0%）高于GPP （62.5%, P = 5.8 × 10−5）。吸烟者的患病率也是如此（79.8% vs 28.3%, P < 10−15）。尽管AP1S3等位基因在不同的疾病亚型中具有相似的频率（0.03-0.05），但IL36RN突变在PPP患者中的发生率（0.03）低于GPP患者（0.19）和ACH患者（0.16;P = 1.9 × 10−14）。002年,分别)。重要的是，在所有形式的脓疱性银屑病中，IL36RN疾病等位基因对发病年龄具有剂量依赖性（P = 0.003）。一项无与伦比的资源分析揭示了PPP和GPP患者之间的关键临床和遗传差异。
The term pustular psoriasis indicates a group of severe skin disorders characterized by eruptions of neutrophil-filled pustules. The disease, which often manifests with concurrent psoriasis vulgaris, can have an acute systemic (generalized pustular psoriasis [GPP]) or chronic localized (palmoplantar pustulosis [PPP] and acrodermatitis continua of Hallopeau [ACH]) presentation. Although mutations have been uncovered in IL36RN and AP1S3, the rarity of the disease has hindered the study of genotype-phenotype correlations. We sought to characterize the clinical and genetic features of pustular psoriasis through the analysis of an extended patient cohort. We ascertained a data set of unprecedented size, including 863 unrelated patients (251 with GPP, 560 with PPP, 28 with ACH, and 24 with multiple diagnoses). We undertook mutation screening in 473 cases. Psoriasis vulgaris concurrence was lowest in PPP (15.8% vs 54.4% in GPP and 46.2% in ACH, P < .0005 for both), whereas the mean age of onset was earliest in GPP (31.0 vs 43.7 years in PPP and 51.8 years in ACH, P < .0001 for both). The percentage of female patients was greater in PPP (77.0%) than in GPP (62.5%; P = 5.8 × 10−5). The same applied to the prevalence of smokers (79.8% vs 28.3%, P < 10−15). Although AP1S3 alleles had similar frequency (0.03-0.05) across disease subtypes, IL36RN mutations were less common in patients with PPP (0.03) than in those with GPP (0.19) and ACH (0.16; P = 1.9 × 10−14 and .002, respectively). Importantly, IL36RN disease alleles had a dose-dependent effect on age of onset in all forms of pustular psoriasis (P = .003). The analysis of an unparalleled resource revealed key clinical and genetic differences between patients with PPP and those with GPP.
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影响因子：
30.8
作者：
Kircher, Martin;Witten, Daniela M.;Jain, Preti;O'Roak, Brian J.;Cooper, Gregory M.;Shendure, Jay
通讯作者：
Shendure, Jay
影响因子：
9.8
作者：
Jordan, Catherine T.;Cao, Li;Bowcock, Anne M.
通讯作者：
Bowcock, Anne M.
DOI：
10.1016/j.jid.2016.06.618
发表时间：
2016-11
期刊：
The Journal of investigative dermatology
影响因子：
--
作者：
Mahil SK;Twelves S;Farkas K;Setta-Kaffetzi N;Burden AD;Gach JE;Irvine AD;Képíró L;Mockenhaupt M;Oon HH;Pinner J;Ranki A;Seyger MMB;Soler-Palacin P;Storan ER;Tan ES;Valeyrie-Allanore L;Young HS;Trembath RC;Choon SE;Szell M;Bata-Csorgo Z;Smith CH;Di Meglio P;Barker JN;Capon F
通讯作者：
Capon F
影响因子：
158.5
作者：
Marrakchi, Slaheddine;Guigue, Philippe;Smahi, Asma
通讯作者：
Smahi, Asma
转录因子活性的系统表观基因组学推断表明芳基烃受体失活是肺癌发展的关键事件。
影响因子：
12.3
作者：
Chen Y;Widschwendter M;Teschendorff AE
通讯作者：
Teschendorff AE