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IRSSC Burlo Garofolo on Muck Rack

IRSSC Burlo Garofolo

As seen in: The Lancet
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Articles

COPA syndrome: a monogenic mimic of rheumatoid arthritis-associated ILD that warrants inclusion in future consensus statements

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By Anna Agrusti, Alberto Tommasini, IRSSC Burlo Garofolo
| The Lancet Verified
We read with great interest the expert consensus statement by Joshua J Solomon and colleagues on the screening, diagnosis, and management of rheumatoid arthritis-associated interstitial lung disease (ILD).1 Their Position Paper addresses genetic risk factors, including variants shared with idiopathic pulmonary fibrosis such as the MUC5B promoter polymorphism and rare variants in TERT, RTEL1, PARN, and SFTPC. We highlight an unmentioned monogenic condition: COPA (coatomer subunit α) syndrome.
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