About: Efficacy and Adverse Events During Janus Kinase Inhibitor Treatment of SAVI Syndrome

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An Entity of Type : schema:ScholarlyArticle, within Data Space : covidontheweb.inria.fr associated with source document(s)

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type	Academic Article research paper schema:ScholarlyArticle
isDefinedBy	Covid-on-the-Web dataset
has title	Efficacy and Adverse Events During Janus Kinase Inhibitor Treatment of SAVI Syndrome
Creator	Cancrini, Caterina Gattorno, Marco Scarselli, Alessia Passarelli, Chiara Bocca, Paola Candotti, Fabio Cangemi, Giuliana Caorsi, Roberta Cardinale, Fabio Debenedetti, Fabrizio Derchi, Maria Diociaiuti, Andrea Girosi, Donata Granata, Claudio Hachem, May Insalaco, Antonella Messia, Virginia Moneta, Gianmarco Org, Stefanovolpi@gaslini Pastorino, Claudia Picco, Paolo Ravelli, Angelo Ricci, Margherita Sacco, Oliviero Santori, Elettra Terheggen-Lagro, Suzanne Tomà, Paolo Volpi, Stefano
Source	Medline; PMC
abstract	OBJECTIVES: Mutations affecting the TMEM173 gene cause STING-associated vasculopathy with onset in infancy (SAVI). No standard immunosuppressive treatment approach is able to control disease progression in patients with SAVI. We studied the efficacy and safety of targeting type I IFN signaling with the Janus kinase inhibitor, ruxolitinib. METHODS: We used DNA sequencing to identify mutations in TMEM173 in patients with peripheral blood type I IFN signature. The JAK1/2 inhibitor ruxolitinib was administered on an off-label basis. RESULTS: We identified three patients with SAVI presenting with skin involvement and progressive severe interstitial lung disease. Indirect echocardiographic signs of pulmonary hypertension were present in one case. Following treatment with ruxolitinib, we observed improvements of respiratory function including increased forced vital capacity in two patients, with discontinuation of oxygen therapy and resolution of echocardiographic abnormalities in one case. Efficacy was persistent in one patient and only transitory in the other two patients. Clinical control of skin complications was obtained, and one patient discontinued steroid treatment. One patient, who presented with kidney involvement, showed resolution of hematuria. One patient experienced increased recurrence of severe viral respiratory infections. Monitoring of peripheral blood type I interferon signature during ruxolitinib treatment did not show a stable decrease. CONCLUSIONS: We conclude that targeting type I IFN receptor signaling may represent a promising therapeutic option for a subset of patients with SAVI syndrome and severe lung involvement. However, the occurrence of viral respiratory infection might represent an important cautionary note for the application of such form of treatment. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1007/s10875-019-00645-0) contains supplementary material, which is available to authorized users.
has issue date	2019-05-29(xsd:dateTime)
bibo:doi	10.1007/s10875-019-00645-0
bibo:pmid	31144250
has license	no-cc
sha1sum (hex)	f4ccc2e6d7ac24ce012ae6408b7ffebda0b95358
schema:url	https://doi.org/10.1007/s10875-019-00645-0
resource representing a document's title	Efficacy and Adverse Events During Janus Kinase Inhibitor Treatment of SAVI Syndrome
has PubMed Central identifier	PMC7086512
has PubMed identifier	31144250
schema:publication	J Clin Immunol
resource representing a document's body	covid:f4ccc2e6d7ac24ce012ae6408b7ffebda0b95358#body_text
is schema:about of	named entity 'case' named entity 'Efficacy' named entity 'Objectives' named entity 'equally' named entity 'JAK1' named entity 'identified' named entity 'safety' named entity 'inhibitor' named entity 'echocardiographic' named entity 'Clinical' named entity 'AFFECTING' named entity 'SAVI' named entity 'BLOOD TYPE' named entity 'DISCONTINUATION' named entity 'PRESENT' named entity 'OFF-LABEL' named entity 'APPROACH' named entity 'COMPLICATIONS' named entity 'DISEASE PROGRESSION' named entity 'PROGRESSIVE' named entity 'TARGETING' named entity 'PATIENT' named entity 'PERSISTENT' named entity 'OBSERVED' named entity 'CAUSE' named entity 'PRESENTING' named entity 'BASIS' named entity 'JAK1' named entity 'RUXOLITINIB' named entity 'MUTATIONS' named entity 'ADMINISTERED' named entity 'SYNDROME' named entity 'DISCONTINUED' named entity 'FOLLOWING' named entity 'IDENTIFIED' named entity 'SEVERE' named entity 'IMMUNOSUPPRESSIVE' named entity 'SIGNS' named entity 'DNA SEQUENCING' named entity 'FORCED VITAL CAPACITY' named entity 'ADVERSE EVENTS' named entity 'EFFICACY' named entity 'INHIBITOR TREATMENT' named entity 'IFN' named entity 'ABNORMALITIES' named entity 'SAVI' named entity 'STEROID' named entity 'TYPE I' named entity 'JANUS KINASE INHIBITOR' named entity 'INCREASED' named entity 'SKIN' named entity 'JANUS KINASE INHIBITOR' named entity 'OXYGEN THERAPY' named entity 'METHODS'

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