Management of suspected monogenic lung fibrosis in a specialised centre

被引：58

作者：

Borie, Raphael ^{[1
,2
,3
,4
]}

Kannengiesser, Caroline ^{[4
,5
]}

de Fontbrune, Flore Sicre ^{[6
]}

Gouya, Laurent ^{[4
,7
,8
,9
]}

Nathan, Nadia ^{[10
,11
]}

Crestani, Bruno ^{[1
,2
,3
,4
]}

机构：

[1] Ctr Competence Malad Pulm Rares, Serv Pneumol A, Paris, France

[2] Hop Bichat Claude Bernard, APHP, DHU FIRE, Paris, France

[3] INSERM, U1152, Paris, France

[4] Univ Paris Diderot, Paris, France

[5] Hop Bichat Claude Bernard, APHP, Genet Lab, Paris, France

[6] Hop St Louis, APHP, CMRM Aplasies Medullaires, Serv Hematol Greffe Moelle, Paris, France

[7] Hop Louis Mourier, AP HP, Ctr Francais Porphyries, Colombes, France

[8] GR Ex, Lab Excellence, Paris, France

[9] INSERM, UMR1149, Paris, France

[10] Hop Armand Trousseau, APHP, Serv Pneumol Pediat, Ctr Natl Reference Malad Resp Rares, Paris, France

[11] Univ Paris 06, Sorbonne Univ, Unite Mixte Rech S933, INSERM, Paris, France

来源：

EUROPEAN RESPIRATORY REVIEW | 2017年 / 26卷 / 144期

关键词：

IDIOPATHIC PULMONARY-FIBROSIS; BONE-MARROW FAILURE; MUC5B PROMOTER POLYMORPHISM; GENOME-WIDE ASSOCIATION; INTERSTITIAL PNEUMONIA; DYSKERATOSIS-CONGENITA; TELOMERE LENGTH; APLASTIC-ANEMIA; MUTATIONS; GENE;

D O I：

10.1183/16000617.0122-2016

中图分类号：

R56 [呼吸系及胸部疾病];

学科分类号：

摘要：

(1)Service de Pneumologie A, Centre de Competence des Maladies Pulmonaires Rares, Paris, France. (DHU)-D-2 FIRE, Hopital Bichat, APHP, Paris, France. (INSERM)-I-3, Unite 1152, Paris, France. (4)University Paris Diderot, Paris, France. (5)Laboratoire de Genetique, APHP, Hpital Bichat, Paris, France. (6)Service d'Hematologie Greffe de Moelle, CMRM Aplasies medullaires, Hopital Saint Louis, APHP, Paris, France. (7)Centre Francais des Porphyries, Hopital Louis Mourier, AP-HP, Colombes, France. (8)Laboratory of Excellence, GR-Ex, Paris, France. (INSERM)-I-9 UMR1149, Paris, France. (10)Service de Pneumologie Pediatrique, Centre National de Reference des Maladies Respiratoires Rares, Hpital Armand-Trousseau, APHP, Paris, France. (INSERM)-I-11 Unite Mixte de Recherche S933, Sorbonne Universites, Universite Pierre et Marie Curie, Paris, France.

引用

页数：17

共 123 条

[11] Telomerase activation as a possible mechanism of action for psychopharmacological interventions [J].

Bersani, Francesco S. ;

Lindqvist, Daniel ;

Mellon, Synthia H. ;

Penninx, Brenda W. J. H. ;

Verhoeven, Josine E. ;

Revesz, Dora ;

Reus, Victor I. ;

Wolkowitz, Owen M. .

DRUG DISCOVERY TODAY, 2015, 20 (11) :1305-1309

[12]

Borie R., 2016, ERS Monogr, V71, P16

[13] Prevalence and characteristics of TERT and TERC mutations in suspected genetic pulmonary fibrosis [J].

Borie, Raphael ;

Tabeze, Laure ;

Thabut, Gabriel ;

Nunes, Hilario ;

Cottin, Vincent ;

Marchand-Adam, Sylvain ;

Prevot, Gregoire ;

Tazi, Abdellatif ;

Cadranel, Jacques ;

Mal, Herve ;

Wemeau-Stervinou, Lidwine ;

Lafaurie, Anne Bergeron ;

Israel-Biet, Dominique ;

Picard, Clement ;

Gaubert, Martine Reynaud ;

Jouneau, Stephane ;

Naccache, Jean-Marc ;

Mankikian, Julie ;

Menard, Christelle ;

Cordier, Jean-Francois ;

Valeyre, Dominique ;

Reocreux, Marion ;

Grandchamp, Bernard ;

Revy, Patrick ;

Kannengiesser, Caroline ;

Crestani, Bruno .

EUROPEAN RESPIRATORY JOURNAL, 2016, 48 (06) :1721-1731

[14] Severe hematologic complications after lung transplantation in patients with telomerase complex mutations [J].

Borie, Raphael ;

Kannengiesser, Caroline ;

Hirschi, Sandrine ;

Le Pavec, Jerome ;

Mal, Herve ;

Bergot, Emmanuel ;

Jouneau, Stephane ;

Naccache, Jean-Marc ;

Revy, Patrick ;

Boutboul, David ;

De la Tour, Regis Peffault ;

Wemeau-Stervinou, Lidwine ;

Philit, Francois ;

Cordier, Jean-Francois ;

Thabut, Gabriel ;

Crestani, Bruno ;

Cottin, Vincent .

JOURNAL OF HEART AND LUNG TRANSPLANTATION, 2015, 34 (04) :538-546

[15] The MUC5B Variant Is Associated with Idiopathic Pulmonary Fibrosis but Not with Systemic Sclerosis Interstitial Lung Disease in the European Caucasian Population [J].

Borie, Raphael ;

Crestani, Bruno ;

Dieude, Philippe ;

Nunes, Hilario ;

Allanore, Yannick ;

Kannengiesser, Caroline ;

Airo, Paolo ;

Matucci-Cerinic, Marco ;

Wallaert, Benoit ;

Israel-Biet, Dominique ;

Cadranel, Jacques ;

Cottin, Vincent ;

Gazal, Steven ;

Peljto, Anna L. ;

Varga, John ;

Schwartz, David A. ;

Valeyre, Dominique ;

Grandchamp, Bernard .

PLOS ONE, 2013, 8 (08)

[16] Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico [J].

Borrero, Pedro J. Santiago ;

Rodriguez-Perez, Yolanda ;

Renta, Jessicca Y. ;

Izquierdo, Natalio J. ;

del Fierro, Laura ;

Munoz, Daniel ;

Molina, Norma Lopez ;

Ramirez, Sonia ;

Pagan-Mercado, Glorivee ;

Ortiz, Idith ;

Rivera-Caragol, Enid ;

Spritz, Richard A. ;

Cadilla, Carmen L. .

JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2006, 126 (01) :85-90

[17] Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene [J].

Brasch, F ;

Griese, M ;

Tredano, M ;

Johnen, G ;

Ochs, M ;

Rieger, C ;

Mulugeta, S ;

Müller, KM ;

Bahuau, M ;

Beers, MF .

EUROPEAN RESPIRATORY JOURNAL, 2004, 24 (01) :30-39

[18] A Spectrum of Severe Familial Liver Disorders Associate with Telomerase Mutations [J].

Calado, Rodrigo T. ;

Regal, Joshua A. ;

Kleiner, David E. ;

Schrump, David S. ;

Peterson, Nathan R. ;

Pons, Veronica ;

Chanock, Stephen J. ;

Lansdorp, Peter M. ;

Young, Neal S. .

PLOS ONE, 2009, 4 (11)

[19] Mechanisms of Disease: Telomere Diseases. [J].

Calado, Rodrigo T. ;

Young, Neal S. .

NEW ENGLAND JOURNAL OF MEDICINE, 2009, 361 (24) :2353-2365

[20] A large kindred of pulmonary fibrosis associated with a novel ABCA3 gene variant [J].

Campo, Ilaria ;

Zorzetto, Michele ;

Mariani, Francesca ;

Kadija, Zamir ;

Morbini, Patrizia ;

Dore, Roberto ;

Kaltenborn, Eva ;

Frixel, Sabrina ;

Zarbock, Ralf ;

Liebisch, Gerhard ;

Hegermann, Jan ;

Wrede, Christoph ;

Griese, Matthias ;

Luisetti, Maurizio .

RESPIRATORY RESEARCH, 2014, 15

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