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新型部分白细胞介素-12/23 受体β1 缺陷患者中播散性鸟分枝杆菌感染。

Disseminated Mycobacterium genavense infection in a patient with a novel partial interleukin-12/23 receptor β1 deficiency.

机构信息

Department of Internal Medicine, Division of Clinical and Experimental Immunology, Maastricht University Medical Center, Maastricht, The Netherlands.

出版信息

Clin Immunol. 2012 Aug;144(2):83-6. doi: 10.1016/j.clim.2012.05.007. Epub 2012 May 24.

DOI:10.1016/j.clim.2012.05.007
PMID:22695533
Abstract

A patient presented with late onset disseminated nontuberculous mycobacterium (NTM) infection due to a novel interleukin-12/interleukin-23 receptor β1 (IL-12/IL-23Rβ1) mutation, r.1561C>G, leading to the amino acid substitution R521G. This is the second patient reported with a partial IL-12/IL-23Rβ1 defect.

摘要

一位患者出现了迟发性播散性非结核分枝杆菌（NTM）感染，这是由于一种新型白细胞介素 12/白细胞介素 23 受体 β1（IL-12/IL-23Rβ1）突变，即 r.1561C>G，导致氨基酸取代 R521G。这是第二位报道的具有部分 IL-12/IL-23Rβ1 缺陷的患者。

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