Nozomi Kinjo

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A 7-year and 11 month-old girl with cerebellar astrocytoma linked to familial ataxia-telangiectasia (AT) is presented. She was born as the 7th girl of a woman with aortic arch syndrome. Two elder sisters of the patient have ataxia telangiectasia. She had immunodeficiency, and cerebellar ataxia, but had no oculocutaneous telangiectasia. The risk of cancer(More)
The development of a versatile technique to induce RNA interference (RNAi) without immune stimulation in vivo is of interest as existing approaches to trigger RNAi, such as small interfering RNA (siRNA) and plasmid DNA (pDNA) expressing short hairpin RNA (shRNA), present drawbacks arising from innate immune stimulation. To overcome them, an intelligent(More)
We report a case of neonatal-onset autoinflammatory syndrome that resembles Nakajo-Nishimura syndrome (NNS), a rare autoinflammatory syndrome caused by a homozygous PSMB8 mutation. The patient is a 7-yearold boy who demonstrated clinical findings that differ from those of typical NNS. Exudative erythemas on his face, trunk, and extremities developed 2 weeks(More)
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