The first case series of cryopyrin-associated periodic syndrome in Korea

Jong Hee Han, Yeon Jin Je, Hyun Je Yoon, Jong Gyun Ahn, Jin Sung Lee, Jung Won Park, Hye Jung Park

Research output: Contribution to journalArticlepeer-review

6 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)583-588
Number of pages6
JournalAllergy, Asthma and Immunology Research
Issue number4
Publication statusPublished - 2019 Jul 1

Bibliographical note

Publisher Copyright:
Copyright © 2019 The Korean Academy of Asthma, Allergy and Clinical Immunology • The Korean Academy of Pediatric Allergy and Respiratory Disease This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (

All Science Journal Classification (ASJC) codes

  • Immunology and Allergy
  • Immunology
  • Pulmonary and Respiratory Medicine


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