白细胞介素-12 受体 β1 缺陷导致播散性球孢子菌病。
Interleukin-12 receptor β1 deficiency predisposing to disseminated Coccidioidomycosis.
机构信息
Immunopathogenesis Section, Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.
出版信息
Clin Infect Dis. 2011 Feb 15;52(4):e99-e102. doi: 10.1093/cid/ciq215.
Abstract
Severe disseminated is rare while localized, contained disease is common. We report a family with disseminated coccidioidomycosis due to a novel homozygous C186Y mutation in interleukin (IL)-12 receptor β1. This family confirms the centrality of the IL-12/IFN-γ axis to human immunity to spp.
摘要
严重播散性疾病罕见，而局限性、包涵性疾病常见。我们报告了一个家族性播散性球孢子菌病，其原因是白细胞介素（IL）-12 受体β1 中的新型纯合 C186Y 突变。该家族证实了 IL-12/IFN-γ 轴在人类对 spp 的免疫中的核心地位。
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