ty -jour t1 - mst1r 突变是温德米尔夫人综合症的遗传原因JF-欧洲呼吸杂志JO -EUR RESSIR J DO -10.1183/13993003.01478-2016 VL -49Becker, Katharina L. AU - Arts, Peer AU - Jaeger, Martin AU - Plantinga, Theodorus S. AU - Gilissen, Christian AU - van Laarhoven, Arjan AU - van Ingen, Jakko AU - Veltman, Joris A. AU - Joosten,狮子座A.B.Au -Hoischen，Alexander au -Netea，Mihai G. Au -Iseman，Michael D. Au -Chan，Edward D. Au -van de Veerdonk，Frank L. Y1-2017/01/01 ur -http：// http：// erj。erersjournals.com/content/49/1/1/1601478.Abstract N2-肺部无结霉菌（PNTM）疾病的患病率正在增加[1]。最常见的引起疾病的NTM属于鸟分枝杆菌复合物[1]。NTM疾病的敏感性和临床表现在很大程度上受人的免疫状态控制。传播或肺外NTM感染与严重的免疫抑制密切相关，例如干扰素（IFN） - γ-插鲁金（IL）-12轴的坦率缺陷的免疫抑制[2]。分离的PNTM与某些潜在条件密切相关，例如囊性纤维化，慢性阻塞性肺部疾病和原发性睫状运动障碍[3，4]。然而，大量的PNTM患者没有明显的危险因素，其中很大一部分表现出具有终身细长的身体习惯，果皮，脊柱侧弯，脊柱侧弯和二尖瓣脱垂为特征的身体形态[5，6]。已经描述了IFN-γ产生和转化生长因子（TGF）-β水平的适度降低[7-10]。 Fowler et al. [11] quantified ciliary beat frequency of 58 pNTM patients and 40 controls and found reduced ciliary beat frequency in the pNTM patients. Szymanski et al. [12] performed whole-exome sequencing on patients with pNTM, their unaffected family members and a control group and concluded that pNTM is a multigenic disease, encompassing potential defects in proteins encoded by cilia genes, the cystic fibrosis transmembrane conductance regulator gene, connective tissue genes and certain immune-related genes.Susceptibility to NTM infections in patients with Lady Windermere syndrome is associated with MST1R variants http://ow.ly/xKgX304uhseWe thank Melanie Wattenberg and Nicole Aalders for their great assistance in the tuberculosis lab and to Bart Loeys (all at Dept of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands) for helpful discussions. We are also grateful to all the patients for participating in the study. We thank Patricia Merkel and Vijaya Knight (National Jewish Health, Denver, CO, USA) for performing the Stat1a analysis. ER -