@article {Borie1800508, author = {Borie, Raphael and Bouvry, Diane and Cottin, Vincent and Gauvain, Clement and Cazes, Aur{\'e}lie and Debray, Marie-Pierre and Cadranel, Jacques and Dieude, Philippe and Degot,Tristan和Dominique，Stephane和Gamez，Anne Sophie和Jaillet，Madeleine and Juge，Pierre-Antoine和London-Vallejo，Arturo和Mailleux，Arnaud和Mal，Herv {\'e}以及Boileau，Catherine and Catherine and Menard和Menard，Christelle和Nunes，Christelle and Nunes，and Nunes，and Nunes，and Nunes，and Nunes，and Nunes，and nunes，and nunes，and nunes，and beineHilario和Prevot，Gregoire and Quetant，Sebastien和Revy，Patrick和Traclet，Julie和Wemeau-Stervinou，Lidwine和Wislez，Wislez，Marie and Kannengiesser，Caroline和Crestani，Crestani，Bruno，Bruno}Eline and Plessier，Aur {\'e} Lie and Brillet，Pierre-Yves和Kambouchner，Marianne和Valeyre，Dominique和Uzunhan，Yurdagul和Dobrinskikh，Evguenia和Park，Park，Sophie和Mehdaoui和Mehdaoui，Anas和Azarian和Azarian，Rezarian，Nicolas，Nicolas，Nicolas和Pottier，Nicolas和Pottier，Nicolas和Pottier，Nicolas和Potter，Nicolas和PotterWallaert，Benoit和Bertocchi，Chantal-Michele和​​Ahmad，Ka {\“ \ i} S和Piquet，JacQues and Bourdin，Arnaud和Skander，Farida和Danel，Claire和Dauriat，Gaelle和Justet，Aurelien和Taill {\'E}，Camille和Honor {\'E}，Isabelle和De Fontbrune，Flore Sicre和Hirschi和Hirschi，Sandrine和Sandrine和Sandrine和Sandrine和Sandrine和Sandrine和Schuller，Armelle和Amselem，Serge和Nathan，Nadia和Clement，Annick}，title = {端粒长度1（RTEL1）突变与异质性肺和肺外表型}相关2}，Elocation-id = {1800508}，年= {2019}，doi = {10.1183/13993003.00508-2018}，Publisher = {欧洲呼吸社会}，188bet官网地址摘要= {telomere Length 1（rtel1）突变的调节器已得到证明在5 {\ textendash} 9 \％的家族性肺纤维化中；然而，间质性肺疾病（ILD）和RTEL1突变的患者的表型知之甚少。在252例ILD概率中进行了整个外显子组测序，我们纳入了所有ILD和RTEL1突变的患者。通过免疫化学在对照肺以及RTEL1和端粒酶反转录酶（TERT）突变载体中评估RTEL1表达。我们确定了来自17个家庭的35名受试者。 Median age at diagnosis of ILD was 53.1 years (range 28.0{\textendash}80.6). The most frequent pulmonary diagnoses were idiopathic pulmonary fibrosis (n=20, 57\%), secondary ILD (n=7, 20\%) and unclassifiable fibrosis or interstitial pneumonia with autoimmune features (n=7, 20\%). The median transplant-free and overall survival periods were 39.2 months and 45.3 months, respectively. Forced vital capacity at diagnosis was the only factor associated with decreased transplant-free survival. Extra-pulmonary manifestations were less frequent as compared to other telomere-related gene mutation carriers. A systematic analysis of the literature identified 110 patients with ILD and RTEL1 mutations (including this series) and confirmed the heterogeneity of the pulmonary phenotype, the prevalence of non-idiopathic diseases and the low prevalence of extra-pulmonary manifestations.Immunohistochemistry showed that RTEL1 was expressed by bronchial and alveolar epithelial cells, as well as by alveolar macrophages and lymphocytes, but not by fibroblasts.RTEL1 mutations are associated with heterogeneous lung phenotypes with limited and heterogeneous extra-respiratory manifestations http://ow.ly/1Ssr30mCZjx}, issn = {0903-1936}, URL = {//www.qdcxjkg.com/content/53/2/1800508}, eprint = {//www.qdcxjkg.com/content/53/2/1800508.full.pdf}, journal = {European Respiratory Journal} }