脓疱性银屑病的遗传学研究进展

Abstract

Abstract:

Li Zhongtao, Wang Sheng Department of Dermatology and Venereology, West China Hospital, Sichuan University, Chengdu 610041, China Corresponding author: Wang Sheng, Email: wangsheng1892@sina.com 【Abstract】 Pustular psoriasis is not a rare inflammatory skin disease, and is characterized by sudden onset of generalized erythema and sterile pustules complicated by chills, high fever, neutrophilia and elevated levels of C-reactive protein. Due to frequent recurrence, it greatly impacts the quality of life in patients. Recently, it has been gradually found that IL36RN, CARD14 and AP1S3 mutations are associated with the occurrence of pustular psoriasis, and accordingly some new therapeutic approaches have emerged. This review summarizes recent advances in genetics of pustular psoriasis.

Zhong-Tao LI Sheng WANG. Pustular psoriasis: an update on genetics[J].Chinese Journal of Dermatology, 2016, 49(11): 827-830.

References ［29］

［1］	Carapito R, Isidor B, Guerouaz N, et al. Homozygous IL36RN mutation and NSD1 duplication in a patient with severe pustular psoriasis and symptoms unrelated to deficiency of interleukin⁃36 receptor antagonist［J］. Br J Dermatol, 2015, 172（1）: 302⁃305. DOI: 10.1111/bjd.13261.
［2］	Camp RDR. Psoriasis［M］//Champion RH. Textbook of derma⁃tology. 6th ed. Oxford: Blackwell Science, 1998: 1589⁃1649.
［3］	陶建凤, 郭一峰, 余红, 等. 儿童泛发性脓疱型银屑病32例临床与病理分析［J］. 临床儿科杂志, 2007, 25（4）: 292⁃295. DOI: 10.3969/j.issn.1000⁃3606.2007.04.014.
	Tao JF, Guo YF, Yu H, et al. The clinical and pathological analysis of 32 children with Zumbusch pattern of generalized pustular psoriasis［J］. J Clin Pediatr, 2007, 25（4）: 292⁃295. DOI: 10.3969/j.issn.1000⁃3606.2007.04.014.
［4］	阎衡, 杨希川, 郝飞. 泛发性脓疱型银屑病的研究进展［J］. 实用皮肤病学杂志, 2009, 2（2）: 94⁃97. DOI: 10.3969/j.issn.1674⁃1293. 2009.02.010.
	Yan H, Yang XC, Hao F. Research progress on gene⁃ralized pustular psoriasis［J］. J Pract Dermatol, 2009, 2（2）: 94⁃97. DOI: 10.3969/j.issn.1674⁃1293. 2009.02.010.
［5］	姜海燕, 方栩. 泛发性脓疱性银屑病相关的研究进展［J］. 国外医学皮肤性病学分册, 2004, 30（5）: 297⁃299. DOI: 10.3760/cma.j.issn.1673⁃4173.2004.05.009.
	Jiang HY, Fang X. Research progress on generalized pustular psoriasis［J］. F Med Sci Sec Dermatol Venereol, 2004, 30（5）: 297⁃299. DOI: 10.3760/cma.j.issn.1673⁃4173.2004.05.009.
［6］	Berki DM, Liu L, Choon SE, et al. Activating CARD14 mutations are associated with generalized pustular psoriasis but rarely account for familial recurrence in psoriasis vulgaris［J］. J Invest Dermatol, 2015, 135（12）: 2964⁃2970. DOI: 10.1038/jid.2015. 288.
［7］	Zhang XJ, Zhang AP, Yang S, et al. Association of HLA class I alleles with psoriasis vulgaris in southeastern Chinese Hans［J］. J Dermatol Sci, 2003, 33（1）: 1⁃6.
［8］	Marrakchi S, Guigue P, Renshaw BR, et al. Interleukin⁃36⁃receptor antagonist deficiency and generalized pustular psoriasis［J］. N Engl J Med, 2011, 365（7）: 620⁃628. DOI: 10.1056/NEJMoa1013068.
［9］	Onoufriadis A, Simpson MA, Pink AE, et al. Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis［J］. Am J Hum Genet, 2011, 89（3）: 432⁃437. DOI: 10.1016/j.ajhg.2011.07.022.
［10］	Sugiura K, Takeichi T, Kono M, et al. A novel IL36RN/IL1F5 homozygous nonsense mutation, p.Arg10X, in a Japanese patient with adult⁃onset generalized pustular psoriasis［J］. Br J Dermatol, 2012, 167（3）: 699⁃701. DOI: 10.1111/j.1365⁃2133.2012.10953.x.
［11］	Li M, Lu Z, Cheng R, et al. IL36RN gene mutations are not associated with sporadic generalized pustular psoriasis in Chinese patients［J］. Br J Dermatol, 2013, 168（2）: 452⁃455. DOI: 10.1111/j.1365⁃2133.2012.11195.x.
［12］	Kumar S, McDonnell PC, Lehr R, et al. Identification and initial characterization of four novel members of the interleukin⁃1 family［J］. J Biol Chem, 2000, 275（14）: 10308⁃10314.
［13］	Sugiura K, Takemoto A, Yamaguchi M, et al. The majority of generalized pustular psoriasis without psoriasis vulgaris is caused by deficiency of interleukin⁃36 receptor antagonist［J］. J Invest Dermatol, 2013, 133（11）: 2514⁃2521. DOI: 10.1038/jid.2013. 230.
［14］	Körber A, Mössner R, Renner R, et al. Mutations in IL36RN in patients with generalized pustular psoriasis［J］. J Invest Dermatol, 2013, 133（11）: 2634⁃2637. DOI: 10.1038/jid.2013. 214.
［15］	Setta⁃Kaffetzi N, Navarini AA, Patel VM, et al. Rare pathogenic variants in IL36RN underlie a spectrum of psoriasis⁃associated pustular phenotypes［J］. J Invest Dermatol, 2013, 133（5）: 1366⁃1369. DOI: 10.1038/jid.2012.490.
［16］	Li M, Han J, Lu Z, et al. Prevalent and rare mutations in IL⁃36RN gene in Chinese patients with generalized pustular psoriasis and psoriasis vulgaris［J］. J Invest Dermatol, 2013, 133（11）: 2637⁃2639. DOI: 10.1038/jid.2013.267.
［17］	Li X, Chen M, Fu X, et al. Mutation analysis of the IL36RN gene in Chinese patients with generalized pustular psoriasis with/without psoriasis vulgaris［J］. J Dermatol Sci, 2014, 76（2）: 132⁃138. DOI: 10.1016/j.jdermsci.2014.08.007.
［18］	Wang TS, Chiu HY, Hong JB, et al. Correlation of IL36RN mutation with different clinical features of pustular psoriasis in Chinese patients［J］. Arch Dermatol Res, 2016, 308（1）: 55⁃63. DOI: 10.1007/s00403⁃015⁃1611⁃x.
［19］	Farooq M, Nakai H, Fujimoto A, et al. Mutation analysis of the IL36RN gene in 14 Japanese patients with generalized pustular psoriasis［J］. Hum Mutat, 2013, 34（1）: 176⁃183. DOI: 10.1002/humu.22203.
［20］	Jordan CT, Cao L, Roberson ED, et al. PSORS2 is due to mutations in CARD14［J］. Am J Hum Genet, 2012, 90（5）: 784⁃795. DOI: 10.1016/j.ajhg.2012.03.012.
［21］	Sugiura K. The genetic background of generalized pustular psoriasis: IL36RN mutations and CARD14 gain⁃of⁃function variants［J］. J Dermatol Sci, 2014, 74（3）: 187⁃192. DOI: 10.1016/j.jdermsci.2014.02.006.
［22］	Sugiura K, Muto M, Akiyama M. CARD14 c.526G>C （p.Asp176His） is a significant risk factor for generalized pustular psoriasis with psoriasis vulgaris in the Japanese cohort［J］. J Invest Dermatol, 2014, 134（6）: 1755⁃1757. DOI: 10.1038/jid. 2014.46.
［23］	Qin P, Zhang Q, Chen M, et al. Variant analysis of CARD14 in a Chinese Han population with psoriasis vulgaris and generalized pustular psoriasis［J］. J Invest Dermatol, 2014, 134（12）: 2994⁃2996. DOI: 10.1038/jid.2014.269.
［24］	Mössner R, Frambach Y, Wilsmann⁃Theis D, et al. Palmoplantar pustular psoriasis is associated with missense variants in CARD14, but Not with loss⁃of⁃function mutations in IL36RN in European patients［J］. J Invest Dermatol, 2015, 135（10）: 2538⁃2541. DOI: 10.1038/jid.2015.186.
［25］	Setta⁃Kaffetzi N, Simpson MA, Navarini AA, et al. AP1S3 muta⁃tions are associated with pustular psoriasis and impaired Toll⁃like receptor 3 trafficking［J］. Am J Hum Genet, 2014, 94（5）: 790⁃797. DOI: 10.1016/j.ajhg.2014.04.005.
［26］	Umezawa Y, Ozawa A, Kawasima T, et al. Therapeutic guidelines for the treatment of generalized pustular psoriasis （GPP） based on a proposed classification of disease severity［J］. Arch Dermatol Res, 2003, 295 Suppl 1: S43⁃54. DOI: 10.1007/s00403⁃002⁃0371⁃6.
［27］	Ikeda S, Takahashi H, Suga Y, et al. Therapeutic depletion of myeloid lineage leukocytes in patients with generalized pustular psoriasis indicates a major role for neutrophils in the immuno⁃pathogenesis of psoriasis［J］. J Am Acad Dermatol, 2013, 68（4）: 609⁃617. DOI: 10.1016/j.jaad.2012.09.037.
［28］	杜鑫, 杨森. 脓疱型银屑病研究进展［J］. 中国皮肤性病学杂志, 2010, 24（5）: 482⁃483，492.
	Du Xin, Yang Sen. Research progress on pustular psoriasis［J］. Chin J Derm Venereol, 2010, 24（5）: 482⁃483, 492.
［29］	Hüffmeier U, Wätzold M, Mohr J, et al. Successful therapy with anakinra in a patient with generalized pustular psoriasis carrying IL36RN mutations［J］. Br J Dermatol, 2014, 170（1）: 202⁃204. DOI: 10.1111/bjd.12548.

Pustular psoriasis: an update on genetics

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