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A case of familial Mediterranean fever associated with compound heterozygosity for the pyrin variant L110P-E148Q/M680I in Japan

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Modern Rheumatology

Abstract

Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent and self-limited fever attacks and serositis/arthritis. The M694V, M694I, M680I, V726A, and E148Q mutations in MEFV, the gene responsible for FMF, account for most FMF cases in Mediterranean populations. In Japan, M694I and E148Q are most frequently detected; M694V, M680I, and V726A have not been identified so far. We report the first case of FMF associated with M680I in Japan.

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Authors and Affiliations

  1. Laboratory for Immunogenomics, Research Center for Allergy and Immunology, RIKEN, Yokohama Institute, Yokohama, Japan

    Koichi Oshima & Osamu Ohara

  2. Department of Infection and Host Defense, Shinshu University Graduate School of Medicine, Shinshu University School of Medicine, Matsumoto, Japan

    Kazuko Yamazaki & Kazunaga Agematsu

  3. Department of Pediatrics, Toyokawa City Hospital, Toyokawa, Japan

    Yoichi Nakajima, Akari Kobayashi & Tomochika Kato

  4. Department of Human Genome Technology, Kazusa DNA Research Institute, Kisarazu, Japan

    Osamu Ohara

Authors
  1. Koichi Oshima
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  2. Kazuko Yamazaki
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  3. Yoichi Nakajima
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  4. Akari Kobayashi
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  5. Tomochika Kato
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  6. Osamu Ohara
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  7. Kazunaga Agematsu
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Correspondence to Koichi Oshima.

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Oshima, K., Yamazaki, K., Nakajima, Y. et al. A case of familial Mediterranean fever associated with compound heterozygosity for the pyrin variant L110P-E148Q/M680I in Japan. Mod Rheumatol 20, 193–195 (2010). https://doi.org/10.1007/s10165-009-0249-y

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  • DOI: https://doi.org/10.1007/s10165-009-0249-y

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