11 research outputs found
Programme nutritionnel supplémentaire au Sénégal (étude rétrospective et prospective à partir de 35 enfants malnutris)
NANCY1-SCD Medecine (545472101) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF
COPA syndrome restricted to life-threatening alveolar hemorrhages: clinical, pathological, molecular and biological characterization
International audienc
Use of Ruxolitinib in COPA syndrome manifesting as life-threatening alveolar hemorrhage
International audienceCOPA (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
Hémosidérose idiopathique pulmonaire de l’enfant et trisomie 21: une étude nationale.
National audienc
Hémosidérose idiopathique pulmonaire de l’enfant et trisomie 21: une étude nationale.
National audienc
Down syndrome and pulmonary hemosiderosis: an under-recognized association
International audienc
Hémosidérose idiopathique pulmonaire de l’enfant et trisomie 21: une étude nationale.
National audienc
Hémosidérose idiopathique pulmonaire de l’enfant et trisomie 21: une étude nationale.
National audienc
Hémosidérose idiopathique pulmonaire de l’enfant et trisomie 21: une étude nationale.
National audienc
Additional file 1: of Pulmonary hemosiderosis in children with Down syndrome: a national experience
Table S1. Detailed characteristics of the 34 included patients. (DOCX 24 kb