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Renal involvement as a potential feature of pyogenic arthritis, pyoderma gangrenosum, and acne syndrome with E250K mutation of PSTPIP1 gene.

作者信息

Zhao Raymond, Novice Taylor, Konda Sasank

机构信息

University of Michigan Medical School, Ann Arbor, Michigan.

Department of Dermatology, Henry Ford Health, Detroit, Michigan.

出版信息

JAAD Case Rep. 2022 Dec 5;32:48-51. doi: 10.1016/j.jdcr.2022.11.030. eCollection 2023 Feb.

DOI:10.1016/j.jdcr.2022.11.030
PMID:36660269
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9842535/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6797/9842535/445360726711/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6797/9842535/fb4f1bfe46a8/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6797/9842535/445360726711/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6797/9842535/fb4f1bfe46a8/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6797/9842535/445360726711/gr2.jpg

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1
Renal involvement as a potential feature of pyogenic arthritis, pyoderma gangrenosum, and acne syndrome with E250K mutation of PSTPIP1 gene.肾脏受累作为伴有PSTPIP1基因E250K突变的化脓性关节炎、坏疽性脓皮病和痤疮综合征的潜在特征。
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本文引用的文献

1
Kidney Involvement in PSTPIP1 Associated Inflammatory Diseases (PAID): A Case Report and Review of the Literature.PSTPIP1相关炎症性疾病（PAID）中的肾脏受累：一例病例报告及文献综述
Front Med (Lausanne). 2021 Oct 29;8:759092. doi: 10.3389/fmed.2021.759092. eCollection 2021.
2
Case Report: Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne: A Single-Center Experience and Literature Review.病例报告：化脓性关节炎、坏疽性脓皮病和痤疮：单中心经验及文献复习。
Front Immunol. 2021 Oct 22;12:735851. doi: 10.3389/fimmu.2021.735851. eCollection 2021.
3
Phenotypic Associations of PSTPIP1 Sequence Variants in PSTPIP1-Associated Autoinflammatory Diseases.
PSTPIP1 相关自身炎症性疾病中 PSTPIP1 序列变异的表型关联。
J Invest Dermatol. 2021 May;141(5):1141-1147. doi: 10.1016/j.jid.2020.08.028. Epub 2020 Nov 18.
4
A Unified Concept of Acne in the PAPA Spectrum Disorders.PAPA 谱系疾病中痤疮的统一概念。
Dermatology. 2021;237(5):827-834. doi: 10.1159/000509874. Epub 2020 Sep 16.
5
High level of serum human interleukin-18 in a patient with pyogenic arthritis, pyoderma gangrenosum and acne syndrome.一名患有化脓性关节炎、坏疽性脓皮病和痤疮综合征患者的血清人白细胞介素-18水平升高。
J Eur Acad Dermatol Venereol. 2017 Feb;31(2):e115-e116. doi: 10.1111/jdv.13856. Epub 2016 Aug 9.
6
Disease activity accounts for long-term efficacy of IL-1 blockers in pyogenic sterile arthritis pyoderma gangrenosum and severe acne syndrome.疾病活动度决定了白细胞介素-1阻滞剂在化脓性无菌性关节炎、坏疽性脓皮病和重度痤疮综合征中的长期疗效。
Rheumatology (Oxford). 2016 Jul;55(7):1325-35. doi: 10.1093/rheumatology/kew031. Epub 2016 Mar 17.
7
Novel PSTPIP1 gene mutation in a patient with pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome.化脓性关节炎、坏疽性脓皮病和痤疮（PAPA）综合征患者中 PSTPIP1 基因的新突变。
Semin Arthritis Rheum. 2015 Aug;45(1):91-3. doi: 10.1016/j.semarthrit.2015.02.012. Epub 2015 Mar 11.
8
Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome (PAPA syndrome) with E250K mutation in CD2BP1 gene treated with the tumor necrosis factor inhibitor adalimumab.肿瘤坏死因子抑制剂阿达木单抗治疗的伴有CD2BP1基因E250K突变的化脓性关节炎、坏疽性脓皮病和痤疮综合征（PAPA综合征）
Clin Exp Rheumatol. 2012 May-Jun;30(3):452. Epub 2012 Jun 26.
9
Brief report: genotype, phenotype, and clinical course in five patients with PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne).简短报告：5例PAPA综合征（化脓性无菌性关节炎、坏疽性脓皮病和痤疮）患者的基因型、表型及临床病程
Arthritis Rheum. 2012 Jun;64(6):2022-7. doi: 10.1002/art.34332. Epub 2011 Dec 12.
10
Clinical, Molecular, and Genetic Characteristics of PAPA Syndrome: A Review.PAPA 综合征的临床、分子和遗传学特征：综述。
Curr Genomics. 2010 Nov;11(7):519-27. doi: 10.2174/138920210793175921.