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Infliximab therapy for Netherton syndrome: A case report.

作者信息

Roda Ângela, Mendonça-Sanches Maria, Travassos Ana Rita, Soares-de-Almeida Luís, Metze Dieter

机构信息

Centro Hospitalar Lisboa Norte EPE, Hospital de Santa Maria, Serviço de Dermatologia, Lisboa, Portugal.

Universidade de Lisboa, Faculdade de Medicina, Clínica Universitária de Dermatologia de Lisboa, Lisboa, Portugal.

出版信息

JAAD Case Rep. 2017 Nov 6;3(6):550-552. doi: 10.1016/j.jdcr.2017.07.019. eCollection 2017 Nov.

DOI:10.1016/j.jdcr.2017.07.019
PMID:29159247
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5681339/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dfb2/5681339/752fa2cd71b1/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dfb2/5681339/fd6bf521d86a/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dfb2/5681339/e4e3a528d069/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dfb2/5681339/752fa2cd71b1/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dfb2/5681339/fd6bf521d86a/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dfb2/5681339/e4e3a528d069/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dfb2/5681339/752fa2cd71b1/gr3.jpg

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Infliximab therapy for Netherton syndrome: A case report.英夫利昔单抗治疗Netherton综合征：一例报告。
JAAD Case Rep. 2017 Nov 6;3(6):550-552. doi: 10.1016/j.jdcr.2017.07.019. eCollection 2017 Nov.
2
Par2 inactivation inhibits early production of TSLP, but not cutaneous inflammation, in Netherton syndrome adult mouse model.Par2 失活抑制 Netherton 综合征成年小鼠模型中 TSLP 的早期产生，但不抑制皮肤炎症。
J Invest Dermatol. 2010 Dec;130(12):2736-42. doi: 10.1038/jid.2010.233. Epub 2010 Aug 12.
3
Kallikrein 5 induces atopic dermatitis-like lesions through PAR2-mediated thymic stromal lymphopoietin expression in Netherton syndrome.激肽释放酶5通过PAR2介导的胸腺基质淋巴细胞生成素表达在Netherton综合征中诱导特应性皮炎样病变。
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4
Netherton syndrome: skin inflammation and allergy by loss of protease inhibition. Netherton 综合征：蛋白酶抑制丧失导致的皮肤炎症和过敏。
Cell Tissue Res. 2013 Feb;351(2):289-300. doi: 10.1007/s00441-013-1558-1. Epub 2013 Jan 24.
5
SPINK5 knockdown in organotypic human skin culture as a model system for Netherton syndrome: effect of genetic inhibition of serine proteases kallikrein 5 and kallikrein 7.作为 Netherton 综合征模型系统的人皮肤器官培养中的 SPINK5 基因敲低：丝氨酸蛋白酶激肽释放酶 5 和激肽释放酶 7 基因抑制的影响
Exp Dermatol. 2014 Jul;23(7):524-6. doi: 10.1111/exd.12451.
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KLK5 Inactivation Reverses Cutaneous Hallmarks of Netherton Syndrome.KLK5失活可逆转Netherton综合征的皮肤特征。
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Elevated stratum corneum hydrolytic activity in Netherton syndrome suggests an inhibitory regulation of desquamation by SPINK5-derived peptides.Netherton综合征中角质层水解活性升高表明SPINK5衍生肽对脱屑有抑制调节作用。
J Invest Dermatol. 2002 Mar;118(3):436-43. doi: 10.1046/j.0022-202x.2001.01663.x.
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Netherton syndrome previously misdiagnosed as hyper IgE syndrome caused by a probable mutation in SPINK5 C.Netherton综合征先前被误诊为高IgE综合征，可能是由SPINK5基因的C突变引起的。
Turk J Pediatr. 2019;61(4):604-607. doi: 10.24953/turkjped.2019.04.020.
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Kallikrein 5 inhibitors identified through structure based drug design in search for a treatment for Netherton Syndrome.基于结构的药物设计发现 kallikrein 5 抑制剂，以期治疗 Netherton 综合征。
Bioorg Med Chem Lett. 2019 Mar 15;29(6):821-825. doi: 10.1016/j.bmcl.2019.01.020. Epub 2019 Jan 22.

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Severe Hypernatremia as Presentation of Netherton Syndrome.严重高钠血症作为Netherton综合征的表现。

本文引用的文献

1
Netherton Syndrome: A Genotype-Phenotype Review.Netherton综合征：基因型-表型综述。
Mol Diagn Ther. 2017 Apr;21(2):137-152. doi: 10.1007/s40291-016-0243-y.
2
Diagnostic criteria of Netherton syndrome using noninvasive reflectance confocal microscopy.
J Dtsch Dermatol Ges. 2016 May;14(5):519-21. doi: 10.1111/ddg.12876.
3
Skin Biopsy in Netherton Syndrome: A Histological Review of a Large Series and New Findings.Netherton综合征的皮肤活检：一项大样本的组织学回顾及新发现
Glob Med Genet. 2023 Nov 22;10(4):335-338. doi: 10.1055/s-0043-1776983. eCollection 2023 Dec.
4
Report of two sisters with Netherton syndrome successfully treated with dupilumab and review of the literature.两例 Netherton 综合征姐妹成功接受度普利尤单抗治疗的报告及文献复习
Int J Immunopathol Pharmacol. 2023 Jan-Dec;37:3946320231172881. doi: 10.1177/03946320231172881.
5
Tailored treatments in inborn errors of immunity associated with atopy (IEIs-A) with skin involvement.针对伴有特应性的免疫缺陷病（IEIs-A）且有皮肤受累情况的个体化治疗。
Front Pediatr. 2023 Mar 22;11:1129249. doi: 10.3389/fped.2023.1129249. eCollection 2023.
6
A novel mutation in gene underlies a case of atypical Netherton syndrome.一个基因中的新型突变是一例非典型 Netherton 综合征的病因。
Front Genet. 2022 Sep 9;13:943264. doi: 10.3389/fgene.2022.943264. eCollection 2022.
7
Atopic Dermatitis-like Genodermatosis: Disease Diagnosis and Management.特应性皮炎样遗传性皮肤病：疾病诊断与管理
Diagnostics (Basel). 2022 Sep 9;12(9):2177. doi: 10.3390/diagnostics12092177.
8
Treatment Experiences with Intravenous Immunoglobulins, Ixekizumab, Dupilumab, and Anakinra in Netherton Syndrome: A Case Series.静脉注射免疫球蛋白、依奇珠单抗、度普利尤单抗和阿那白滞素治疗 Netherton 综合征的治疗经验：病例系列。
Dermatology. 2023;239(1):72-80. doi: 10.1159/000525987. Epub 2022 Aug 23.
9
New developments in the molecular treatment of ichthyosis: review of the literature.鱼鳞病分子治疗的新进展：文献回顾。
Orphanet J Rare Dis. 2022 Jul 15;17(1):269. doi: 10.1186/s13023-022-02430-6.
10
Biologic Therapies for the Management of Cutaneous Findings in Genodermatoses: A Review.遗传性皮肤病皮肤表现的生物治疗：综述。
Am J Clin Dermatol. 2022 Sep;23(5):673-688. doi: 10.1007/s40257-022-00700-4. Epub 2022 May 23.
Am J Dermatopathol. 2016 Feb;38(2):83-91. doi: 10.1097/DAD.0000000000000425.
4
Proteolytic activation cascade of the Netherton syndrome-defective protein, LEKTI, in the epidermis: implications for skin homeostasis. Netherton 综合征缺陷蛋白，LEKTI，在表皮中的蛋白水解激活级联：对皮肤稳态的影响。
J Invest Dermatol. 2011 Nov;131(11):2223-32. doi: 10.1038/jid.2011.174. Epub 2011 Jun 23.
5
Infliximab infusions for Netherton syndrome: sustained clinical improvement correlates with a reduction of thymic stromal lymphopoietin levels in the skin.英夫利昔单抗输注治疗Netherton综合征：临床持续改善与皮肤中胸腺基质淋巴细胞生成素水平降低相关。
J Invest Dermatol. 2011 Sep;131(9):1947-50. doi: 10.1038/jid.2011.124. Epub 2011 Jun 9.
6
Kallikrein 5 induces atopic dermatitis-like lesions through PAR2-mediated thymic stromal lymphopoietin expression in Netherton syndrome.激肽释放酶5通过PAR2介导的胸腺基质淋巴细胞生成素表达在Netherton综合征中诱导特应性皮炎样病变。
J Exp Med. 2009 May 11;206(5):1135-47. doi: 10.1084/jem.20082242. Epub 2009 May 4.
7
[Ichthyosis linearis circumflexa].[线状回旋状鱼鳞病]
Dermatologica. 1949;98(3):133-6.
8
LEKTI demonstrable by immunohistochemistry of the skin: a potential diagnostic skin test for Netherton syndrome.通过皮肤免疫组织化学可检测到的LEKTI：一种潜在的 Netherton 综合征皮肤诊断试验。
Br J Dermatol. 2004 Dec;151(6):1253-7. doi: 10.1111/j.1365-2133.2004.06180.x.
9
NETHERTON'S DISEASE; TRICHORRHEXIS INVAGINATA (BAMBOO HAIR), CONGENITAL ICHTHYOSIFORM ERYTHRODERMA AND THE ATOPIC DIATHESIS. A HISTOPATHOLOGIC STUDY.Netherton病；套叠性脆发症（竹节状发）、先天性鱼鳞病样红皮病与特应性素质。一项组织病理学研究。
Arch Dermatol. 1964 Jan;89:46-54. doi: 10.1001/archderm.1964.01590250052010.
10
A unique case of trichorrhexis nodosa; bamboo hairs.结节性脆发症的一个独特病例；竹节状毛发。
AMA Arch Derm. 1958 Oct;78(4):483-7. doi: 10.1001/archderm.1958.01560100059009.