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Journal articles
Use of ruxolitinib in COPA syndrome manifesting as life-threatening alveolar haemorrhage
Marie-Louise Frémond
1
Marie Legendre
2, 3
Michael Fayon
4
Annick Clement
3, 2
Emilie Filhol-Blin
3
Nicolas Richard
2
Laura Berdah
2
Sylvie Roullaud
5
Gillian Rice
6
Vincent Bondet
7
Darragh Duffy
7
Chiara Sileo
8
Hubert Ducou Le Pointe
8
Hugues Begueret
9
Aurore Coulomb
2
Bénédicte Neven
1, 10
Serge Amselem
3
Yanick Crow
1, 11
Nadia Nathan
12, 1, *
*
Corresponding author
Marie-Louise Frémond 1
Author
Marie Legendre 2, 3
Author
Michael Fayon 4
Author
Annick Clement 3, 2
Author
Gillian Rice 6
Author
Vincent Bondet 7
Author IdHAL : vincent-bondet ORCID : https://orcid.org/0000-0002-6534-0984
Darragh Duffy 7
Author IdHAL : darragh-duffy ORCID : https://orcid.org/0000-0002-8875-2308
Chiara Sileo 8
Author
Hubert Ducou Le Pointe 8
Author
Hugues Begueret 9
Author
Aurore Coulomb 2
Author
Bénédicte Neven 1, 10
Author
Serge Amselem 3
Author
Yanick Crow 1, 11
Author IdHAL : yanick-crow ORCID : https://orcid.org/0000-0001-7211-7564
Nadia Nathan 12, 1
Correspondent author
1
IMAGINE - U1163 - Imagine - Institut des maladies génétiques (IHU Imagine,
156 rue de Vaugirard, 75015 PARIS
et
24 Boulevard du Montparnasse, 75015 Paris - France)
- UPD5 - Université Paris Descartes - Paris 5 : UMR_S 1163 (12, rue de l'École de Médecine - 75270 Paris cedex 06 - France)
- INSERM - Institut National de la Santé et de la Recherche Médicale : U1163 (101, rue de Tolbiac, 75013 Paris - France)
2
CHU Trousseau [APHP] (26 Avenue du Dr Arnold Netter, 75012 Paris - France)
- AP-HP - Assistance publique - Hôpitaux de Paris (AP-HP) (France)
- Sorbonne Université (France)
3
Physiopathologie des maladies génétiques d'expression pédiatrique (France)
- INSERM - Institut National de la Santé et de la Recherche Médicale : U933 (101, rue de Tolbiac, 75013 Paris - France)
- SU - Sorbonne Université (21 rue de l’École de médecine - 75006 Paris - France)
4
CRCTB - Centre de recherche Cardio-Thoracique de Bordeaux [Bordeaux] (Université Bordeaux Segalen 146 rue Leo Saignat Zone sud, Batiment TP, 2ème étage Case courrier 13 33076 Bordeaux cedex - France)
- Université Bordeaux Segalen - Bordeaux 2 (146 rue Léo Saignat - 33076 Bordeaux cedex - France)
- CHU Bordeaux [Bordeaux] (place Amélie Raba Léon 33076 BORDEAUX CEDEX - France)
- INSERM - Institut National de la Santé et de la Recherche Médicale : U1045 (101, rue de Tolbiac, 75013 Paris - France)
5
CH Angoulême - Centre Hospitalier d'Angoulême (Rond point de Girac
CS 55015 Saint-Michel
16959 ANGOULEME - France)
6
MAHSC - Manchester Academic Health Science Centre (Core Technology Facility
The University of Manchester
46 Grafton Street
Manchester
M13 9NT - United Kingdom)
- University of Manchester [Manchester] (Oxford Rd, Manchester M13 9PL - United Kingdom)
7
Immunobiologie des Cellules dendritiques (Département d'Immunologie, 25-28 rue du Docteur Roux, 75724 Paris cedex 15 - )
- Institut Pasteur [Paris] (25-28, rue du docteur Roux, 75724 Paris cedex 15 - France)
- INSERM - Institut National de la Santé et de la Recherche Médicale : U1223 (101, rue de Tolbiac, 75013 Paris - France)
8
Service de Radiologie [CHU Trousseau] (France)
- AP-HP - Assistance publique - Hôpitaux de Paris (AP-HP) (France)
- CHU Trousseau [APHP] (26 Avenue du Dr Arnold Netter, 75012 Paris - France)
- AP-HP - Assistance publique - Hôpitaux de Paris (AP-HP) (France)
- Sorbonne Université (France)
9
Hôpital Haut-Lévêque [CHU Bordeaux] (France)
- CHU Bordeaux [Bordeaux] (place Amélie Raba Léon 33076 BORDEAUX CEDEX - France)
10
CHU Necker - Enfants Malades [AP-HP] (149 Rue de Sèvres 75015 Paris - France)
11
University of Edinburgh (Old College South Bridge Edinburgh EH8 9YL - United Kingdom)
12
Service de Pneumologie Pédiatrique [CHU Trousseau] (26 Avenue du Docteur Arnold Netter, 75012 Paris - France)
- AP-HP - Assistance publique - Hôpitaux de Paris (AP-HP) (France)
- CHU Trousseau [APHP] (26 Avenue du Dr Arnold Netter, 75012 Paris - France)
- AP-HP - Assistance publique - Hôpitaux de Paris (AP-HP) (France)
- Sorbonne Université (France)
Abstract : 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.
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Journal articles
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https://hal-pasteur.archives-ouvertes.fr/pasteur-02376257
Contributor : Marie-Christine Vougny <>
Submitted on : Friday, November 22, 2019 - 2:44:26 PM
Last modification on : Tuesday, June 29, 2021 - 3:23:54 AM
Contributor : Marie-Christine Vougny <>
Submitted on : Friday, November 22, 2019 - 2:44:26 PM
Last modification on : Tuesday, June 29, 2021 - 3:23:54 AM
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Identifiers
- HAL Id : pasteur-02376257, version 1
- PUBMED : 31666386
- DOI : 10.1136/thoraxjnl-2019-213892
Collections
PASTEUR | UNIV-PARIS5 | SORBONNE-UNIVERSITE | U933 | USPC | SU-MEDECINE | UNIV-PARIS | UP-SANTE | SU-TI
Citation
Marie-Louise Frémond, Marie Legendre, Michael Fayon, Annick Clement, Emilie Filhol-Blin, et al.. Use of ruxolitinib in COPA syndrome manifesting as life-threatening alveolar haemorrhage. Thorax, BMJ Publishing Group, 2019, pp.thoraxjnl-2019-213892. ⟨10.1136/thoraxjnl-2019-213892⟩. ⟨pasteur-02376257⟩
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