Familial Mediterranean fever gene as a possible modifier of Sweet syndrome with chronic myelogenous leukemia.
Sweet syndrome is a multisystem inflammatory disorder characterized by acute fever, as well as painful erythematous plaques infiltrated with mature neutrophils in the absence of vasculitis. The pathogenesis of the disease has not yet been clarified, although several proinflammatory cytokines have been reported to be involved in the disease process. We describe here a patient clinically diagnosed with Sweet syndrome with chronic myelogenous leukemia. The mutational analysis of the patient revealed a compound heterozygous E148Q/R202Q mutation in exon 2 of MEFV gene, which is a causative gene for familial Mediterranean fever. This is the first report to describe MEFV gene mutations in Sweet syndrome. Our results suggest that Sweet syndrome may be mediated though similar inflammatory mechanisms to those of familial Mediterranean fever.
Miyoshi
Takashi
T
Department of Hematology and Oncology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Yamashita
Kouhei
K
Ohno
Tatsuharu
T
Izumi
Taisuke
T
Takaori-Kondo
Akifumi
A
Sasada
Masataka
M
Uchiyama
Takashi
T
D000368:Aged; D001483:Base Sequence; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004273:DNA, Neoplasm / Q000235:genetics; D010505:Familial Mediterranean Fever / Q000235:genetics*; D005260:Female; D006801:Humans; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000150:complications* / Q000235:genetics*; D008875:Middle Aged; D020125:Mutation, Missense; D000071198:Pyrin; D016463:Sweet Syndrome / Q000150:complications* / Q000235:genetics* / Q000473:pathology
D003598:Cytoskeletal Proteins; D004273:DNA, Neoplasm; C000604192:MEFV protein, human; D000071198:Pyrin