Childhood syndrome combining lung disease, arthritis identified

20 abril 2015

Using the latest genome sequencing techniques, a research team has identified a new autoimmune syndrome characterized by a combination of severe lung disease and arthritis. The hereditary disorder, which appears in early childhood, had never been diagnosed as a single syndrome. The new research revealed that it is caused by mutations in a single gene that disrupt how proteins are shuttled around within cells. Patients with the newly discovered syndrome have a poor prognosis, and at present can only be treated with anti-inflammatory and immunosuppressant drugs. Many have lung disease so severe that they must receive lung transplants.