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Prolidase deficiency diagnosed by whole exome sequencing in a child with pulmonary capillaritis

Jonathan H. Rayment, Rebekah Jobling, Sarah Bowdin, Ernest Cutz, Sharon D. Dell
ERJ Open Research 2019 5: 00205-2018; DOI: 10.1183/23120541.00205-2018
Jonathan H. Rayment
1Division of Respiratory Medicine, BC Children's Hospital, Vancouver, BC, Canada
2Dept of Paediatrics, University of British Columbia, Vancouver, BC, Canada
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  • ORCID record for Jonathan H. Rayment
Rebekah Jobling
3Dept of Paediatrics, University of Toronto, Toronto, ON, Canada
4Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada
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Sarah Bowdin
5Dept of Clinical Genetics, Addenbrooke's Treatment Centre, Cambridge University Hospitals, Cambridge, UK
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Ernest Cutz
6Division of Pathology, Dept of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada
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Sharon D. Dell
3Dept of Paediatrics, University of Toronto, Toronto, ON, Canada
7Division of Respiratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada
8Institute of Health Policy, Management and Education, University of Toronto, Toronto, ON, Canada
9Child Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, ON, Canada
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  • For correspondence: sharon.dell@sickkids.ca
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    Radiology and histopathology. a, b) Computed tomography (CT) of the chest taken at 16 months of age at presentation of idiopathic diffuse alveolar haemorrhage, demonstrating diffuse ground-glass opacities, interlobular septal thickening and tiny subpleural cystic lesions (arrows). c, d) CT of the chest taken at 5 years of age, demonstrating significant resolution of ground-glass opacities after immunosuppressive therapy, but progression of the interlobular septal thickening and subpleural cysts (now also within a fissural and peribronchovascular distribution), with emergent traction bronchiectasis and fibrosis. e) Histopathology from the biopsy taken at 16 months of age demonstrating lipoid pneumonia (red arrow), cholesterol crystals (black arrow) and hemosiderin-laden macrophages (white arrow); haematoxylin and eosin stain, magnification 4×. f) Electron microscopy shows capillary basement membrane with electron dense mineral deposits (iron calcium phosphate, dark deposits seen along the length of basement membrane, indicated by the red arrow). Scale bar=200 nm.

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Prolidase deficiency diagnosed by whole exome sequencing in a child with pulmonary capillaritis
Jonathan H. Rayment, Rebekah Jobling, Sarah Bowdin, Ernest Cutz, Sharon D. Dell
ERJ Open Research Apr 2019, 5 (2) 00205-2018; DOI: 10.1183/23120541.00205-2018

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Prolidase deficiency diagnosed by whole exome sequencing in a child with pulmonary capillaritis
Jonathan H. Rayment, Rebekah Jobling, Sarah Bowdin, Ernest Cutz, Sharon D. Dell
ERJ Open Research Apr 2019, 5 (2) 00205-2018; DOI: 10.1183/23120541.00205-2018
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