Add to ORKGBackground: Hermansky-Pudlak syndrome (HPS), a hereditary multisystem disorder with oculocutaneous albinism, may be caused by mutations in one of at least 10 separate genes. The HPS-2 subtype is distinguished by the presence of neutropenia and knowledge of its pulmonary phenotype in children is scarce. Methods: Six children with genetically proven HPS-2 presented to the chILD-EU register between 2009 and 2017; the data were collected systematically and imaging studies were scored blinded. Results: Pulmonary symptoms including dyspnea, coughing, need for oxygen, and clubbing started 3.3 years before the diagnosis was made at the mean age of 8.83 years (range 2-15). All children had recurrent pulmonary infections, 3 had a spontaneous pneumoth...
Figure S5. CT scan of subject 5. CT at 2 (left column) and 5 (right column) years of age. Initial sc...
Figure S1. CT scan and spirometry course of subject 1. (A) CT scan at 12 and 15 years of age. Initia...
Interstitial lung disease in children represents a group of rare chronic respiratory disorders. Ther...
Abstract Background Hermansky-Pudlak syndrome (HPS), a hereditary multisystem disorder with oculocut...
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder, which results in oculocutane...
Childhood interstitial lung diseases (chILD) are a heterogenous group of rare disorders affecting th...
PubMedID: 24284295Hermansky-Pudlak Syndrome (HPS) is a rare autosomal recessive disorder presenting ...
Hermansky-Pudlak syndrome (HPS) is a rare genetic disorder, the most common complication of which in...
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneo...
Hermansky-Pudlak syndrome is a rare autosomal recessive multisystem disease, with oculocutneous albi...
Figure S3. Bodyplethysmography of subject 3. Bodyplethysmography at the last follow up (19 years of ...
Figure S4. CT scan of subject 4. CT Scan with patchy distribution of ground glass opacity throughout...
Summary: It has been challenging to generate in vitro models of alveolar lung diseases, as the stabl...
Figure S7. Histological pattern of subject 6. A (HE, x50): Normal lung architecture with partly coll...
Detailed description of the individual cases. Subjects 1 to 6. Table S1. Non-pulmonary signs and sym...
Figure S5. CT scan of subject 5. CT at 2 (left column) and 5 (right column) years of age. Initial sc...
Figure S1. CT scan and spirometry course of subject 1. (A) CT scan at 12 and 15 years of age. Initia...
Interstitial lung disease in children represents a group of rare chronic respiratory disorders. Ther...
Abstract Background Hermansky-Pudlak syndrome (HPS), a hereditary multisystem disorder with oculocut...
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder, which results in oculocutane...
Childhood interstitial lung diseases (chILD) are a heterogenous group of rare disorders affecting th...
PubMedID: 24284295Hermansky-Pudlak Syndrome (HPS) is a rare autosomal recessive disorder presenting ...
Hermansky-Pudlak syndrome (HPS) is a rare genetic disorder, the most common complication of which in...
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneo...
Hermansky-Pudlak syndrome is a rare autosomal recessive multisystem disease, with oculocutneous albi...
Figure S3. Bodyplethysmography of subject 3. Bodyplethysmography at the last follow up (19 years of ...
Figure S4. CT scan of subject 4. CT Scan with patchy distribution of ground glass opacity throughout...
Summary: It has been challenging to generate in vitro models of alveolar lung diseases, as the stabl...
Figure S7. Histological pattern of subject 6. A (HE, x50): Normal lung architecture with partly coll...
Detailed description of the individual cases. Subjects 1 to 6. Table S1. Non-pulmonary signs and sym...
Figure S5. CT scan of subject 5. CT at 2 (left column) and 5 (right column) years of age. Initial sc...
Figure S1. CT scan and spirometry course of subject 1. (A) CT scan at 12 and 15 years of age. Initia...
Interstitial lung disease in children represents a group of rare chronic respiratory disorders. Ther...