Publication date: Available online 10 October 2017
Source:Clinical Immunology
Author(s): Stefano Volpi, Jessica Tsui, Marcello Mariani, Claudia Pastorino, Roberta Caorsi, Oliviero Sacco, Angelo Ravelli, Anthony K. Shum, Marco Gattorno, Paolo Picco
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.
http://ift.tt/2i3p4c9
Σφακιανάκης Αλέξανδρος
ΩτοΡινοΛαρυγγολόγος
Αναπαύσεως 5 Άγιος Νικόλαος
Κρήτη 72100
00302841026182
00306932607174
alsfakia@gmail.com
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- Milia: a useful clinical marker of CYLD mutation c...
- Microphthalmia with linear skin defects (MLS) synd...
- Linear IgA bullous dermatosis associated with amyo...
- Milia: a useful clinical marker of CYLD mutation c...
- Scorpion bite-induced ischaemic stroke
- Oesophageal ischaemia: an uncommon cause of chest ...
- Posterior fossa progressive multifocal leukoenceph...
- Subclinical meningoventriculitis as a cause of obs...
- A unique case of nephrogenic systemic fibrosis fro...
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- Hydatid cyst of the thigh: a challenging diagnosis
- Syncope from radiation-induced baroreceptor failure
- Live 'Baby dance among the red blood cells
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