Additional file 1: of Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood

Detailed description of the individual cases. Subjects 1 to 6. Table S1. Non-pulmonary signs and symptoms. Table S2. Blinded scoring of CT-scans (number of CTs available at diagnosis (n = 5)/ at follow-up (n = 5); CTs at follow-up and diagnosis available in sub 1-3 and 6, only at follow-up in sub. 2 and only at diagnosis in sub. 4). Scans were analysed for the presence and absence of features listed in the six sections of the lungs. Scoring was not validated. Table S3. Results of bronchoalveolar lavage (BAL) at diagnosis. (DOC 107 kb)