Use of ruxolitinib in COPA syndrome manifesting as life-threatening alveolar haemorrhage

Use of ruxolitinib in COPA syndrome manifesting as life-threatening alveolar haemorrhage

COPA (coatomer subunit α) syndrome is a newly recognised cause of interstitial lung disease in children and adults, frequently associated with arthritis and renal dysfunction. We report a 11-year-old girl with disease limited to major pulmonary haemosiderosis manifesting at the age of 2 years, due t...

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Veröffentlicht in:Thorax 2020-01, Vol.75 (1), p.92-95
Hauptverfasser: Frémond, Marie-Louise, Legendre, Marie, Fayon, Michael, Clement, Annick, Filhol-Blin, Emilie, Richard, Nicolas, Berdah, Laura, Roullaud, Sylvie, Rice, Gillian I, Bondet, Vincent, Duffy, Darragh, Sileo, Chiara, Ducou le Pointe, Hubert, Begueret, Hugues, Coulomb, Aurore, Neven, Bénédicte, Amselem, Serge, Crow, Yanick, Nathan, Nadia
Format: Artikel
Sprache:eng
Schlagworte:
Age
Anemia
Arthritis
Autoimmune diseases
Chest clinic
Child
Cysts
Female
Hemorrhage - drug therapy
Hemosiderosis - drug therapy
Hemosiderosis - genetics
Hemosiderosis, Pulmonary
Humans
Hypertension
Immunology
Inhibitor drugs
Lavage
Life Sciences
Lung diseases
Lung Diseases - drug therapy
Lung Diseases - genetics
Lungs
massive haemoptysis
Medical imaging
Mutation
Nitriles
Ostomy
paediatric interstitial lung disease
paediatric lung disaese
Patients
Phosphorylation
Proteins
Pyrazoles - therapeutic use
Pyrimidines
rare lung diseases
systemic disease and lungs
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Zusammenfassung:COPA (coatomer subunit α) syndrome is a newly recognised cause of interstitial lung disease in children and adults, frequently associated with arthritis and renal dysfunction. We report a 11-year-old girl with disease limited to major pulmonary haemosiderosis manifesting at the age of 2 years, due to a heterozygous p.(Arg233His) mutation in COPA. Her interferon (IFN) signature was elevated (10.312 and 12.429, healthy
ISSN:0040-6376
1468-3296
DOI:10.1136/thoraxjnl-2019-213892