Palmoplantar Pustular Psoriasis Is Associated with Missense Variants in CARD14, but Not with Loss-of-Function Mutations in IL36RN in European Patients

被引：82

作者：

Moessner, Rotraut ^{[1
]}

Frambach, Yvonne ^{[2
,3
]}

Wilsmann-Theis, Dagmar ^{[4
]}

Loehr, Sabine ^{[5
]}

Jacobi, Arnd ^{[6
,7
]}

Weyergraf, Ansgar ^{[8
]}

Mueller, Michael ^{[9
]}

Philipp, Sandra ^{[10
]}

Renner, Regina ^{[11
]}

Traupe, Heiko ^{[12
]}

Burkhardt, Harald ^{[13
,14
]}

Kingo, Kuelli ^{[15
]}

Koks, Sulev ^{[16
]}

Uebe, Steffen ^{[5
]}

Sticherling, Michael ^{[11
]}

Sticht, Heinrich ^{[17
]}

Oji, Vinzenz ^{[12
]}

Hueffmeier, Ulrike ^{[5
]}

机构：

[1] Univ Gottingen, Dept Dermatol, D-37073 Gottingen, Germany

[2] Med Univ Lubeck, Dept Dermatol, D-23538 Lubeck, Germany

[3] Hanse Klin, Lubeck, Germany

[4] Univ Bonn, Dept Dermatol & Allergy, Bonn, Germany

[5] Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, Germany

[6] Univ Med Ctr Hamburg Eppendorf, Inst Hlth Serv Res Dermatol & Nursing, Hamburg, Germany

[7] Univ Marburg, Dept Dermatol, Marburg, Germany

[8] Fachklinik Bad Bentheim, Dept Dermatol, Bad Bentheim, Germany

[9] Univ Gottingen, Inst Occcupat Social & Environm Med, D-37073 Gottingen, Germany

[10] Univ Med Berlin, Dept Dermatol & Allergy, Berlin, Germany

[11] Univ Erlangen Nurnberg, Dept Dermatol, Erlangen, Germany

[12] Univ Munster, Dept Dermatol, D-48149 Munster, Germany

[13] Goethe Univ Frankfurt, Div Rheumatol, D-60054 Frankfurt, Germany

[14] Goethe Univ Frankfurt, IME Fraunhofer Project Grp Translat Med & Pharmac, D-60054 Frankfurt, Germany

[15] Univ Tartu, Dermatol Clin, Dept Dermatol, EE-50090 Tartu, Estonia

[16] Univ Tartu, Dept Pathophysiol, EE-50090 Tartu, Estonia

[17] Univ Erlangen Nurnberg, Inst Biochem, Dept Bioinformat, D-91054 Erlangen, Germany

来源：

JOURNAL OF INVESTIGATIVE DERMATOLOGY | 2015年 / 135卷 / 10期

关键词：

RISK-FACTOR; VULGARIS; RARE;

D O I：

10.1038/jid.2015.186

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

引用

页码：2538 / 2541

页数：4

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[1] The genetic background of generalized pustular psoriasis: IL36RN mutations and CARD14 gain-of-function variants
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[2] Case of generalized pustular psoriasis with coexisting mutations in IL36RN and CARD14
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[3] Palmoplantar pustular psoriasis is associated with a missense variant in CARD14 in European patients
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[7] Analysis of IL36RN and CARD14 gene mutation in Japanese patients with generalized pustular psoriasis and palmoplanter pustulosis
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