Genome Sequencing Uncovers New Autoimmune Syndrome

Using technology that allows scientists to read the script of a person’s DNA, scientists have found a new autoimmune disease syndrome that combines severe lung disease and arthritis. The disorder appears early in childhood and is caused by mutations in a single gene that disrupt how proteins move around within cells. Patients with the disorder have a poor prognosis. While they can be treated with anti-inflammatory and immunosuppressant drugs, many have such severe lung disease that they require a lung transplant.

However, scientists remain hopeful that more effective treatments can be developed. “We believe there are small molecules in development that can help correctly traffic the proteins that are misdirected in this syndrome, so that’s something we really want to go after,” said Anthony K. Shum, MD, co-senior author of the report, which appeared in the journal Nature Genetics, and an assistant professor of medicine at the University of California, San Francisco.

The discovery was made after Dr. Shum treated a woman for a pulmonary hemorrhage and learned she had arthritis, too. He then learned that the patient had a sibling and an aunt both with the same lung disease and arthritis combination.