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Keiko Yamagami, Tomoyuki Nakamura, Ryota Nakamura, Yusuke Hanioka, Kaori Seki, Hiroshi Chiba, Keiko Kobayashi, Kazunaga Agematsu, Familial Mediterranean fever with P369S/R408Q exon3 variant in pyrin presenting as symptoms of PFAPA, Modern Rheumatology, Volume 27, Issue 2, 4 March 2017, Pages 356–359, https://doi.org/10.1080/14397595.2017.1267173
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Abstract
Familial Mediterranean fever (FMF) can be classified into typical and incomplete/atypical types. Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) syndrome-like symptoms have been found in atypical type carrying P369S-R408Q mutations in the responsible gene MEFV. A 28-year-old female with recurrent fever and her young sisters and mother, all of whom had tonsillectomy for tonsillitis, carried heterozygous alterations involving E148Q/P369S/R408Q. A diagnosis of atypical FMF, MEFV exon3 variants with PFAPA syndrome-like symptoms, was made.