التفاصيل البيبلوغرافية
| العنوان: |
Use of ruxolitinib in COPA syndrome manifesting as life-threatening alveolar haemorrhage. |
| المؤلفون: |
Frémond, Marie-Louise, Legendre, Marie, Michael Fayon, Clement, Annick, Filhol-Blin, Emilie, Richard, Nicolas, Berdah, Laura, Roullaud, Sylvie, Rice, Gillian I., Bondet, Vincent, Duffy, Darragh, Sileo, Chiara, Pointe, Hubert Ducou le, Begueret, Hugues, Coulomb, Aurore, Neven, Bénédicte, Amselem, Serge, Crow, Yanick, Nathan, Nadia, Fayon, Michael |
| المصدر: |
Thorax; Jan2020, Vol. 75 Issue 1, p92-95, 4p |
| مصطلحات موضوعية: |
SYNDROMES, HEMORRHAGE, JUVENILE idiopathic arthritis, ANTINEUTROPHIL cytoplasmic antibodies, LIFE sciences, MACROPHAGE activation syndrome, RESEARCH, HETEROCYCLIC compounds, LUNG diseases, RESEARCH methodology, EVALUATION research, MEDICAL cooperation, HEMOSIDEROSIS, COMPARATIVE studies |
| مستخلص: |
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 <2.466), as was the level of serum IFNα (211 fg/mL, healthy <10 fg/mL). STAT1 phosphorylation in T lymphocytes and monocytes was increased as compared with healthy controls. Based on these results she was treated with the JAK1/2 inhibitor ruxolitinib, which resulted in reduction in IFN signalling and appeared to be associated with partial though incomplete decrease in the severity of her pulmonary disease. Patients with alveolar haemorrhage of unknown origin should be considered for COPA screening. Functional tests can help to personalise patient therapy. [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
Complementary Index |
