Contents Preface vii Guest Editors viii Introduction xi List of abbreviations xiv 1. How to identify rare diseases of the respiratory system 1 Helge Hebestreit, Florian Gahleitner, Simon Veldhoen and Matthias Griese 2. Differential diagnosis of reciprocal mimics of neoplastic and 10 non-neoplastic pulmonary disorders: multidisciplinary approaches Nicolas Girard Rare diseases of the lung interstitium 3. Interstitial lung diseases: an overview 23 Theodoros Karampitsakos, Marlies Wijsenbeek, Jose D. Herazo-Maya, Argyris Tzouvelekis and Michael Kreuter 4. Rare interstitial lung diseases of environmental origin 40 Carlos Robalo Cordeiro, Tiago Alfaro and Sara Freitas 5. Amyloidosis and the lungs and airways 53 Joshua A. Bomsztyk, Jennifer H. Pinney and Helen J. Lachmann 6. Diffuse cystic lung diseases including lymphangioleiomyomatosis 69 Davide Elia, Antonella Caminati, Lisa Tescaro, Roberto Cassandro and Sergio Harari Rare disease of the airways or alveoli 7. Bronchiolitis 85 Venerino Poletti, Claudia Ravaglia, Alessandra Dubini, Sissel Kronborg-White, Salvatore Cazzato and Sara Piciucchi 8. Pulmonary alveolar proteinosis 103 Evelyn Lynn, Omaima Omar, Ali Ataya, Elisabeth Bendstrup, Alessandro N. Franciosi and Cormac McCarthy 9. Primary ciliary dyskinesia 118 Petra Pennekamp, Johanna Raidt, Kai Wohlgemuth, Heike Olbrich and Heymut Omran 10. Cystic fibrosis and other ion channel-related diseases 135 Simon Y. Graeber and Marcus A. Mall ERS monograph Rare Diseases of the Respiratory System Number 100 June 2023