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231225s2018 xx |||||o 00| ||eng c |
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|a 10.1016/j.clim.2017.10.001
|2 doi
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|a pubmed24n0923.xml
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|e rakwb
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|a eng
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| 100 |
1 |
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|a Volpi, Stefano
|e verfasserin
|4 aut
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| 245 |
1 |
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|a Type I interferon pathway activation in COPA syndrome
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|c 2018
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| 336 |
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|a Text
|b txt
|2 rdacontent
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|a ƒaComputermedien
|b c
|2 rdamedia
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|a ƒa Online-Ressource
|b cr
|2 rdacarrier
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| 500 |
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|a Date Completed 18.03.2019
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|a Date Revised 21.01.2021
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|a published: Print-Electronic
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|a Citation Status MEDLINE
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|a Copyright © 2017. Published by Elsevier Inc.
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|a Mutations of the COPA gene cause an immune dysregulatory disease characterised by polyarticular arthritis and progressive interstitial lung disease with pulmonary haemorrhages. We report the case of a young girl that presented at age 3 with polyarticular arthritis, chronic cough and high titer rheumatoid factor. Radiologic imaging showed interstitial lung disease with tree-in-a-bud nodules and air-filled cysts. Targeted genetic analysis of COPA gene showed the reported c.698G>A mutation. The patient was lost to follow up for 3years during which therapy was discontinued with the development of joint damage and deformities. Analysis of peripheral blood showed activation of type 1 interferon pathway, which was also confirmed in 4 previously reported COPA patients. Our observations underline the importance of early treatment in COPA disease to avoid loss of joint function. Furthermore, our results suggest a role for type 1 interferon in disease pathogenesis opening the possibility for targeted therapeutic approaches
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|a Case Reports
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|a Journal Article
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|a Research Support, N.I.H., Extramural
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|a Research Support, Non-U.S. Gov't
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|a Autoinflammatory diseases
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| 650 |
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|a COPA syndrome
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|a Type 1 interferonopathy
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|a Antibodies, Antinuclear
|2 NLM
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| 650 |
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|a Coatomer Protein
|2 NLM
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| 650 |
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|a Interferon Type I
|2 NLM
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|a Rheumatoid Factor
|2 NLM
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| 650 |
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|a 9009-79-4
|2 NLM
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| 700 |
1 |
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|a Tsui, Jessica
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Mariani, Marcello
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Pastorino, Claudia
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Caorsi, Roberta
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Sacco, Oliviero
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Ravelli, Angelo
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Shum, Anthony K
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Gattorno, Marco
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Picco, Paolo
|e verfasserin
|4 aut
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| 773 |
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|i Enthalten in
|t Clinical immunology (Orlando, Fla.)
|d 1999
|g 187(2018) vom: 20. Feb., Seite 33-36
|w (DE-627)NLM098196855
|x 1521-7035
|7 nnns
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| 773 |
1 |
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|g volume:187
|g year:2018
|g day:20
|g month:02
|g pages:33-36
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|u http://dx.doi.org/10.1016/j.clim.2017.10.001
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