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A case of Muckle–Wells syndrome caused by a novel H312P mutation in NALP3 (cryopyrin)

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Modern Rheumatology

Abstract

Here, we report a case of Muckle–Wells syndrome (MWS) caused by a novel mutation in the CIAS1/NALP3 gene. A 23-year-old woman had recurrent self-limited inflammatory episodes from childhood, with headache, abdominal pain, arthritis, and urticarial rash, associated with profound sensorineural hearing loss. The diagnosis was established on the basis of a typical clinical picture together with a missense mutation, which replaced an amino acid adjacent to one in an earlier reported case of MWS resembling this one.

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Authors and Affiliations

  1. Department of Pharmacovigilance, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan

    Ryuji Koike

  2. Graduate School of Health Sciences, Tokyo Medical and Dental University, Tokyo, Japan

    Tetsuo Kubota, Yukichi Hara & Sayaka Ito

  3. Department of Medicine and Rheumatology, Tokyo Medical and Dental University, Tokyo, Japan

    Ryuji Koike, Kyoko Suzuki, Kayoko Yanagisawa, Ken Uchibori & Nobuyuki Miyasaka

Authors
  1. Ryuji Koike
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  2. Tetsuo Kubota
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  3. Yukichi Hara
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  4. Sayaka Ito
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  5. Kyoko Suzuki
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  6. Kayoko Yanagisawa
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  7. Ken Uchibori
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  8. Nobuyuki Miyasaka
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Corresponding author

Correspondence to Ryuji Koike.

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Koike, R., Kubota, T., Hara, Y. et al. A case of Muckle–Wells syndrome caused by a novel H312P mutation in NALP3 (cryopyrin). Mod Rheumatol 17, 496–499 (2007). https://doi.org/10.1007/s10165-007-0616-5

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  • DOI: https://doi.org/10.1007/s10165-007-0616-5

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