Chinese Journal of Dermatology ›› 2026, e20240211.doi: 10.35541/cjd.20240211
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Zhou Yuting, Song Qinghua, Wang Wenhui
Received:2024-04-22
Revised:2025-04-20
Online:2026-02-09
Published:2026-04-27
Contact:
Wang Wenhui
E-mail:wwh0608@126.com
Supported by:Zhou Yuting, Song Qinghua, Wang Wenhui. Susceptibility genes of generalized pustular psoriasis[J]. Chinese Journal of Dermatology,2026,e20240211. doi:10.35541/cjd.20240211
| [1] | Puig L, Choon SE, Gottlieb AB, et al. Generalized pustular psoriasis: a global Delphi consensus on clinical course, diagnosis, treatment goals and disease management[J]. J Eur Acad Dermatol Venereol, 2023,37(4):737⁃752. DOI: 10.1111/jdv.18851. |
| [2] | 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. |
| [3] | Macleod T, Berekmeri A, Bridgewood C, et al. The immunological impact of IL⁃1 family cytokines on the epidermal barrier[J]. Front Immunol, 2021,12:808012. DOI: 10.3389/fimmu.2021.808012. |
| [4] | Johnston A, Xing X, Wolterink L, et al. IL⁃1 and IL⁃36 are dominant cytokines in generalized pustular psoriasis[J]. J Allergy Clin Immunol, 2017,140(1):109⁃120. DOI: 10.1016/j.jaci.2016.08.056. |
| [5] | Tauber M, Bal E, Pei XY, et al. IL36RN mutations affect protein expression and function: a basis for genotype⁃phenotype correlation in pustular diseases[J]. J Invest Dermatol, 2016,136(9):1811⁃1819. DOI: 10.1016/j.jid.2016.04.038. |
| [6] | Krueger JG, Pagotto A, Haftel S, et al. Targeted review of IL36RN mutations in patients with generalised pustular psoriasis[J]. Skin Health Dis, 2024,4(2):e343. DOI: 10.1002/ski2.343. |
| [7] | Nguyen Thi Thuy T, Trung Nguyen K, Le Nguyen B, et al. IL36RN mutations and correlated characteristics in generalized pustular psoriasis patients in Can Tho city, Vietnam: a cross⁃sectional study[J]. Dermatology, 2024,240(5⁃6):750⁃757. DOI: 10.1159/000541886. |
| [8] | 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. |
| [9] | Wang K, Zhao Y, Cao X. Global burden and future trends in psoriasis epidemiology: insights from the global burden of disease study 2019 and predictions to 2030[J]. Arch Dermatol Res, 2024,316(4):114. DOI: 10.1007/s00403⁃024⁃02846⁃z. |
| [10] | Zhao AQ, Li M. Understanding the pathogenesis of generalized pustular psoriasis based on molecular genetics and immunopathology[J]. Int J Dermatol Venerol, 2022, 5(4): 199⁃206. DOI: 10.1097/jd9.0000000000000277. |
| [11] | Twelves S, Mostafa A, Dand N, et al. Clinical and genetic differences between pustular psoriasis subtypes[J]. J Allergy Clin Immunol, 2019,143(3):1021⁃1026. DOI: 10.1016/j.jaci. 2018.06.038. |
| [12] | 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. |
| [13] | Wang Z, Xiang X, Chen Y, et al. Different clinical features of pediatric generalized pustular psoriasis in patients with or without IL36RN variants[J]. Dermatology, 2023,239(2):217⁃226. DOI: 10.1159/000528753. |
| [14] | Hussain S, Berki DM, Choon SE, et al. IL36RN mutations define a severe autoinflammatory phenotype of generalized pustular psoriasis[J]. J Allergy Clin Immunol, 2015,135(4):1067⁃1070.e9. DOI: 10.1016/j.jaci.2014.09.043. |
| [15] | Choon SE, Tok P, Wong KW, et al. Clinical profile of patients with acute generalized pustular psoriasis with and without IL36RN mutations in multi⁃ethnic Johor Bahru, Malaysia[J]. Exp Dermatol, 2023,32(8):1263⁃1271. DOI: 10.1111/exd.14776. |
| [16] | Liu ZJ, Tian YT, Shi BY, et al. Association between mutation of interleukin 36 receptor antagonist and generalized pustular psoriasis: a PRISMA⁃compliant systematic review and meta⁃analysis[J]. Medicine (Baltimore), 2020,99(45):e23068. DOI: 10.1097/MD.0000000000023068. |
| [17] | Howes A, O'Sullivan PA, Breyer F, et al. Psoriasis mutations disrupt CARD14 autoinhibition promoting BCL10⁃MALT1⁃dependent NF⁃κB activation[J]. Biochem J, 2016,473(12):1759⁃1768. DOI: 10.1042/BCJ20160270. |
| [18] | 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. |
| [19] | 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. |
| [20] | 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. |
| [21] | Li L, You J, Fu X, et al. Variants of CARD14 are predisposing factors for generalized pustular psoriasis (GPP) with psoriasis vulgaris but not for GPP alone in a Chinese population[J]. Br J Dermatol, 2019,180(2):425⁃426. DOI: 10.1111/bjd.17392. |
| [22] | Trai NN, Van Em D, Van BT, et al. Correlation of IL36RN and CARD14 mutations with clinical manifestations and laboratory findings in patients with generalised pustular psoriasis[J]. Indian J Dermatol Venereol Leprol, 2023,89(3):378⁃384. DOI: 10.25259/IJDVL_1054_2021. |
| [23] | Mahil SK, Twelves S, Farkas K, et al. AP1S3 mutations cause skin autoinflammation by disrupting keratinocyte autophagy and up⁃regulating IL⁃36 production[J]. J Invest Dermatol, 2016,136(11):2251⁃2259. DOI: 10.1016/j.jid.2016.06.618. |
| [24] | Setta⁃Kaffetzi N, Simpson MA, Navarini AA, et al. AP1S3 mutations 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. |
| [25] | Mössner R, Wilsmann⁃Theis D, Oji V, et al. The genetic basis for most patients with pustular skin disease remains elusive[J]. Br J Dermatol, 2018,178(3):740⁃748. DOI: 10.1111/bjd.15867. |
| [26] | Ortiz⁃Cerda T, Xie K, Mojadadi A, et al. Myeloperoxidase in health and disease[J]. Int J Mol Sci, 2023,24(9):7725. DOI: 10.3390/ijms24097725. |
| [27] | Haskamp S, Bruns H, Hahn M, et al. Myeloperoxidase modulates inflammation in generalized pustular psoriasis and additional rare pustular skin diseases[J]. Am J Hum Genet, 2020,107(3):527⁃538. DOI: 10.1016/j.ajhg.2020.07.001. |
| [28] | Vergnano M, Mockenhaupt M, Benzian⁃Olsson N, et al. Loss⁃of⁃function myeloperoxidase mutations are associated with increased neutrophil counts and pustular skin disease[J]. Am J Hum Genet, 2020,107(3):539⁃543. DOI: 10.1016/j.ajhg.2020. 06.020. |
| [29] | Haskamp S, Frey B, Becker I, et al. Transcriptomes of MPO⁃deficient patients with generalized pustular psoriasis reveals expansion of CD4(+) cytotoxic T cells and an involvement of the complement system[J]. J Invest Dermatol, 2022,142(8):2149⁃2158.e10. DOI: 10.1016/j.jid.2021.12.021. |
| [30] | Wang J, Li J, Zhou L, et al. Regulation of epidermal barrier function and pathogenesis of psoriasis by serine protease inhibitors[J]. Front Immunol, 2024,15:1498067. DOI: 10.3389/fimmu.2024.1498067. |
| [31] | Johnston A, Xing X, Wolterink L, et al. IL⁃1 and IL⁃36 are dominant cytokines in generalized pustular psoriasis[J]. J Allergy Clin Immunol, 2017,140(1):109⁃120. DOI: 10.1016/j.jaci.2016.08.056. |
| [32] | Frey S, Sticht H, Wilsmann⁃Theis D, et al. Rare loss⁃of⁃function mutation in SERPINA3 in generalized pustular psoriasis[J]. J Invest Dermatol, 2020,140(7):1451⁃1455.e13. DOI: 10.1016/j.jid.2019.11.024. |
| [33] | Liu Y, Li H, Meng S, et al. Newly revealed variants of SERPINA3 in generalized pustular psoriasis attenuate inhibition of ACT on cathepsin G[J]. J Hum Genet, 2023,68(6):419⁃425. DOI: 10.1038/s10038⁃023⁃01139⁃z. |
| [34] | Kantaputra P, Chaowattanapanit S, Kiratikanon S, et al. SERPINA1, generalized pustular psoriasis, and adult⁃onset immunodeficiency[J]. J Dermatol, 2021,48(10):1597⁃1601. DOI: 10.1111/1346⁃8138.16081. |
| [35] | Kantaputra P, Daroontum T, Chuamanochan M, et al. SERPINb3, adult⁃onset immunodeficiency, and generalized pustular psoriasis[J]. Genes (Basel), 2023,14(2):266. DOI: 10.3390/genes14020266. |
| [36] | Zhang Q, Shi P, Wang Z, et al. Identification of the BTN3A3 gene as a molecule implicated in generalized pustular psoriasis in a Chinese population[J]. J Invest Dermatol, 2023,143(8):1439⁃1448. DOI: 10.1016/j.jid.2023.01.023. |
| [37] | Rasmussen NL, Zhou J, Olsvik H, et al. The inflammation repressor TNIP1/ABIN⁃1 is degraded by autophagy following TBK1 phosphorylation of its LIR[J]. Autophagy, 2023,19(10):2819⁃2820. DOI: 10.1080/15548627.2023.2185013. |
| [38] | Han JW, Wang Y, Alateng C, et al. Tumor necrosis factor⁃alpha induced protein 3 interacting protein 1 gene polymorphisms and pustular psoriasis in Chinese Han population[J]. Chin Med J (Engl), 2016,129(13):1519⁃1524. DOI: 10.4103/0366⁃6999. 184470. |
| [39] | Jiang M, Sun Z, Dang E, et al. TGFβ/SMAD/microRNA⁃486⁃3p signaling axis mediates keratin 17 expression and keratinocyte hyperproliferation in psoriasis[J]. J Invest Dermatol, 2017,137(10):2177⁃2186. DOI: 10.1016/j.jid.2017.06.005. |
| [40] | Kantaputra P, Daroontum T, Chuamanochan M, et al. Loss of function TGFBR2 variant as a contributing factor in generalized pustular psoriasis and adult⁃onset immunodeficiency[J]. Genes (Basel), 2022,14(1):103. DOI: 10.3390/genes14010103. |
| [41] | Stoler I, Freytag J, Orak B, et al. Gene⁃dose effect of MEFV gain⁃of⁃function mutations determines ex vivo neutrophil activation in familial mediterranean fever[J]. Front Immunol, 2020,11:716. DOI: 10.3389/fimmu.2020.00716. |
| [42] | Yoshikawa T, Takeichi T, Nishida K, et al. MEFV variants are a predisposing factor for generalized pustular psoriasis[J]. J Am Acad Dermatol, 2024,90(4):852⁃854. DOI: 10.1016/j.jaad.2023. 10.070. |
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