Allergy Asthma Immunol Res.  2019 Jul;11(4):583-588. 10.4168/aair.2019.11.4.583.

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

• Han JH
• Je YJ
• Yoon HJ
• Ahn JG
• Lee JS
• Park JW
• Park HJ

• KMID: 2448760
• DOI: http://doi.org/10.4168/aair.2019.11.4.583

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.

Keyword

Cryopyrin-associated periodic syndromes; NLRP3 protein, human; NLR family, pyrin domain-containing 3 protein; urticaria; arthralgia

MeSH Terms

Adult
Arthralgia
Arthritis
Blood Sedimentation
C-Reactive Protein
Child, Preschool
Cryopyrin-Associated Periodic Syndromes*
Exons
Fathers
Fatigue
Female
Fever
Humans
Interleukin 1 Receptor Antagonist Protein
Korea*
Male
Ulcer
Urticaria
C-Reactive Protein
Interleukin 1 Receptor Antagonist Protein

Figure

• 

  Fig. 1 Urticaria on the trunk (A), hand (B) and leg with joint swelling (C) of the patient in case 1.

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  Fig. 2 Chromatogram of the NLPR3 gene mutations in the patients in cases 1 (A), 2 (B), and 3 (C).

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