Masahiro Ueki

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OBJECTIVES Acute leukemia often causes osteoarthralgia. The aim of this study is characterization of leukemia-associated osteoarthralgia in comparison with juvenile idiopathic arthritis (JIA). METHODS We retrospectively reviewed clinical records of 31 patients with acute leukemia and 13 patients with articular JIA diagnosed between January 2008 and March(More)
Heterozygous dominant-negative mutations of STAT1 are responsible for autosomal-dominant Mendelian susceptibility to mycobacterial diseases (AD-MSMD). So far, only 7 mutations have been previously described and are localized to 3 domains: the DNA-binding domain, the SH2 domain, and the tail segment. In this study, we demonstrated the first coiled-coil(More)
Palindromic rheumatism (PR), a rare disease in children, is characterized by recurrent arthritis or periarthritis and asymptomatic interval. We report evolution of PR to juvenile idiopathic arthritis in a Japanese girl with heterozygous complex L110P-E148Q allele of MEFV gene. Poor response to colchicine alone suggests that the MEFV substitution could(More)
Relapsing polychondritis (RPC) is an inflammatory disorder predominantly affecting cartilaginous structures including ears, nose, joints, and respiratory tracts. Although RPC is rare in children, previous reports indicated childhood RPC is atypical or severe. A 13-year-old girl presented with redness and swelling of the bilateral auricles and subsequently(More)
Autoantibodies to autoimmune enteropathy-related 75 kDa antigen (AIE-75) and villin are disease markers of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome which is characterized by a peripheral tolerance defect. On the other hand, anti-tryptophan hydroxylase-1 (TPH-1) antibodies are detected in autoimmune polyendocrinopathy,(More)
We report a 9-year-old Japanese girl who presented with muscle weakness and elevated serum levels of muscle-derived enzymes following mycoplasma infection. Rhabdomyolysis or myositis was suggested by magnetic resonance imaging and repeated four times within 4 years. Each episode developed following respiratory infection and spontaneously recovered. The(More)
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