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

Koichi OshimaLaboratory for Immunogenomics, Research Center for Allergy and Immunology, RIKEN, Yokohama Institute, Yokohama, JapanCorrespondence[email protected]

Kazuko YamazakiDepartment of Infection and Host Defense, Shinshu University Graduate School of Medicine, Shinshu University School of Medicine, Matsumoto, Japan

Yoichi NakajimaDepartment of Pediatrics, Toyokawa City Hospital, Toyokawa, Japan

Akari KobayashiDepartment of Pediatrics, Toyokawa City Hospital, Toyokawa, Japan

Tomochika KatoDepartment of Pediatrics, Toyokawa City Hospital, Toyokawa, Japan

Osamu OharaLaboratory for Immunogenomics, Research Center for Allergy and Immunology, RIKEN, Yokohama Institute, Yokohama, Japan;Department of Human Genome Technology, Kazusa DNA Research Institute, Kisarazu, Japan

Kazunaga AgematsuDepartment of Infection and Host Defense, Shinshu University Graduate School of Medicine, Shinshu University School of Medicine, Matsumoto, Japan

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

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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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