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Keratoendotheliitis Fugax Hereditaria: A Novel Cryopyrin-Associated Periodic Syndrome Caused by a Mutation in the Nucleotide-Binding Domain, Leucine-Rich Repeat Family, Pyrin Domain-Containing 3 (NLRP3) Gene.遗传性突发角膜内皮营养不良：一种由核苷酸结合域、富含亮氨酸重复家族、含吡喃结构域的 3（NLRP3）基因中的突变引起的新型冷球蛋白血症相关周期性综合征。
Am J Ophthalmol. 2018 Apr;188:41-50. doi: 10.1016/j.ajo.2018.01.017. Epub 2018 Jan 31.
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Diagnostic criteria for cryopyrin-associated periodic syndrome (CAPS).Cryopyrin 相关周期性综合征（CAPS）的诊断标准。
Ann Rheum Dis. 2017 Jun;76(6):942-947. doi: 10.1136/annrheumdis-2016-209686. Epub 2016 Oct 4.
3
NLRP3 A439V Mutation in a Large Family with Cryopyrin-associated Periodic Syndrome: Description of Ophthalmologic Symptoms in Correlation with Other Organ Symptoms.一个患有冷吡啉相关周期性综合征的大家族中的NLRP3 A439V突变：与其他器官症状相关的眼科症状描述
J Rheumatol. 2016 Jun;43(6):1101-6. doi: 10.3899/jrheum.150681. Epub 2016 May 1.
4
Successful resolution of stromal keratitis and uveitis using canakinumab in a patient with chronic infantile neurologic, cutaneous, and articular syndrome: a case study.在一名患有慢性婴儿神经、皮肤和关节综合征的患者中使用卡那单抗成功治愈基质性角膜炎和葡萄膜炎：一项病例研究。
J Ophthalmic Inflamm Infect. 2015 Dec;5(1):34. doi: 10.1186/s12348-015-0065-9. Epub 2015 Nov 21.
5
Cryopyrin-associated periodic syndromes and the eye.Cryopyrin 相关周期性综合征与眼睛。
Ocul Immunol Inflamm. 2013 Aug;21(4):306-9. doi: 10.3109/09273948.2013.765016. Epub 2013 May 10.
6
Use of canakinumab in the cryopyrin-associated periodic syndrome.卡那单抗在冷吡啉相关周期性综合征中的应用。
N Engl J Med. 2009 Jun 4;360(23):2416-25. doi: 10.1056/NEJMoa0810787.
7
The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model.冷吡啉相关周期性综合征的临床连续谱：北美患者中的新型CIAS1突变及一种新的冷吡啉模型
Arthritis Rheum. 2007 Apr;56(4):1273-1285. doi: 10.1002/art.22491.
8
Chronic infantile neurological cutaneous and articular/neonatal onset multisystem inflammatory disease syndrome: ocular manifestations in a recently recognized chronic inflammatory disease of childhood.
Arch Ophthalmol. 2000 Oct;118(10):1386-92. doi: 10.1001/archopht.118.10.1386.

Cryopyrin-associated periodic syndrome presenting with posterior scleritis.

作者信息

Alvarez Erica R, Corless Brady, Kontzias Apostolos, Cebulla Colleen M

机构信息

The Ohio State University Department of Ophthalmology and Visual Science Havener Eye Institute, The Ohio State University Wexner Medical Center, Columbus, OH, USA.

Department of Surgery, Texas Tech University Health Sciences Center, El Paso, TX, USA.

出版信息

Rheumatology (Oxford). 2019 Dec 1;58(12):2337-2339. doi: 10.1093/rheumatology/kez197.

DOI:10.1093/rheumatology/kez197
PMID:31170293
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6880849/
Abstract
摘要