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The First Case Series of Cryopyrin-Associated Periodic Syndrome in Korea

Authors
 Jong Hee Han  ;  Yeon Jin Je  ;  Hyun Je Yoon  ;  Jong Gyun Ahn  ;  Jin-Sung Lee  ;  Jung-Won Park  ;  Hye Jung Park 
Citation
 Allergy Asthma & Immunology Research, Vol.11(4) : 583-588, 2019 
Journal Title
 Allergy Asthma & Immunology Research 
ISSN
 2092-7355 
Issue Date
2019
MeSH
Cryopyrin-associated periodic syndromes ; NLR family, pyrin domain-containing 3 protein ; NLRP3 protein, human ; arthralgia ; urticaria
Abstract
Cryopyrin-associated periodic syndrome (CAPS) is a hereditary autoinflammatory syndrome caused by mutations in NLRP3 (encoding cryopyrin), which presents with fever, fatigue and arthralgia. Thus far, however there have been no reports of CAPS in Korea. Herein, we report 3 cases of CAPS for the first time in Korea. The first case, a 28-year-old man with recurrent urticaria, arthralgia and fever induced by cold, all of which were observed in his father, showed elevated erythrocyte sedimentation rate and C-reactive protein. He exhibited a p.Gly303Asp variant of the NLPR3 gene. The second case, a 2-year-old girl who had recurrent urticaria, arthritis and oral and genital ulcers, was positive for HLA B51 and a p.Glu569Lys mutation in exon 3 of the NLRP3 gene. Administration of anakinra greatly improved her symptoms. The third case, a 4-year-old boy who presented with recurrent urticaria, arthralgia, and fever, exhibited a p.Val72Met mutation in exon 1 of the NLRP3 gene. Administration of tocilizumab improved all of his symptoms. This small case series suggests that clinicians consider CAPS and conduct genetic studies when arthralgia and fever are accompanied by urticaria in Korea.
Files in This Item:
T201903151.pdf Download
DOI
10.4168/aair.2019.11.4.583
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
Yonsei Authors
Park, Jung Won(박정원)
Park, Hye Jung(박혜정) ORCID logo https://orcid.org/0000-0002-1862-1003
Ahn, Jong Gyun(안종균) ORCID logo https://orcid.org/0000-0001-5748-0015
Lee, Jin-Sung(이진성) ORCID logo https://orcid.org/0000-0002-1262-8597
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/171246
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