Prolidase deficiency diagnosed by whole exome sequencing in a child with pulmonary capillaritis
Open Access
- 26 April 2019
- journal article
- letter
- Published by European Respiratory Society (ERS) in ERJ Open Research
- Vol. 5 (2), 00205-2018
- https://doi.org/10.1183/23120541.00205-2018
Abstract
The case of a young boy with pulmonary haemorrhage who was ultimately diagnosed on whole exome sequencing with a rare condition called prolidase deficiency. This case demonstrates the utility of modern genomic testing in paediatric rare lung disease.http://ow.ly/rDGz30o8pcdKeywords
This publication has 8 references indexed in Scilit:
- Accelerating Scientific Advancement for Pediatric Rare Lung Disease Research. Report from a National Institutes of Health–NHLBI Workshop, September 3 and 4, 2015Annals of the American Thoracic Society, 2016
- Analysis of protein-coding genetic variation in 60,706 humansNature, 2016
- Pulmonary manifestations of prolidase deficiencyPediatric Pulmonology, 2016
- Spurious Elevation of Multiple Urine Amino Acids by Ion-Exchange Chromatography in Patients with Prolidase DeficiencyPublished by Springer Science and Business Media LLC ,2016
- COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritisNature Genetics, 2015
- Prolidase deficiency breaks tolerance to lupus-associated antigensInternational Journal of Rheumatic Diseases, 2013
- Prolidase deficiency associated with systemic lupus erythematosus (SLE): single site experience and literature reviewPediatric Rheumatology, 2012
- A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variabilityAmerican Journal Of Medical Genetics Part B-Neuropsychiatric Genetics, 2009