Rintaro Urasawa

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Systemic lupus erythematosus (SLE) was observed in a 7-year-old boy with IgG2 and IgG4 subclass deficiencies who had been treated with immunoglobulin (100–200 mg/kg/4 weeks) since 2 years of age. The mother and the half-brother displayed the same deficiency. Serum IgG mainly consisted of IgG1 (98.9%) during the acute phase of SLE due to transient IgG3(More)
Initiator codon mutations are relatively uncommon and less well characterized compared to other types of mutations. We identified a novel initiator codon mutation (c.2T>C) heterozygously in a Japanese patient (Patient GK30) with mitochondrial acetoacetyl-CoA thiolase (T2) gene deficiency (ACAT1 deficiency); c.149delC was on the other allele. We examined(More)
We described an 11 year-old boy with systemic lupus erythematosus (SLE) and various coagulopathy. He had purpura on the legs, pancytopenia, positive anti-DNA antibodies and hypocomplementia. Hematological examination also showed that platelet counts were 80 x 10(3)/microliter, lupus anticoagulant and anticardiolipin antibodies were positive. The aPTT was(More)
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