An unprecedented COPA gene mutation in two patients in the same family: comparative clinical analysis of newly reported patients with other known COPA gene mutations

An unprecedented COPA gene mutation in two patients in the same family: comparative clinical analysis of newly reported patients with other known COPA gene mutations

Abstract Introduction The COPA syndrome is a newly recognized monogenic, autosomal dominant autoimmune disease presenting mostly presenting in childhood. Clinical features include inflammation of the lungs, kidneys, and joints. Approximately twenty-six patients with COPA syndrome worldwide have been...

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Bibliographic Details
Main Authors: Anjali Patwardhan, Charles H. Spencer
Format: Article
Language:English
Published: BMC 2019-08-01
Series:Pediatric Rheumatology Online Journal
Subjects:
Autoimmunity
COPA syndrome
Interstitial lung disease
Arthritis
Pulmonary hemorrhage
Alveolitis
Online Access:http://link.springer.com/article/10.1186/s12969-019-0359-9

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http://link.springer.com/article/10.1186/s12969-019-0359-9

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