A team of international scientists has uncovered the genetic underpinnings of a rare, inherited autoimmune disorder, according to a study recently published in Science Translational Medicine . Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a life-threatening autoimmune disease that affects an estimated 1 in 100,000–500,000 people worldwide, according to the National Institutes of Health. People with APECED may experience more than 30 different manifestations of the disease, including chronic fungal infections of the skin and mouth, endocrine dysfunction and multi-organ inflammation.
While the disease is known to have genetic causes , not all patients with the condition have the hallmark variant in the AIRE gene, said Jennifer Miller, MD, '04 GME, associate professor of Pediatrics in the Division of Endocrinology, who was a co-author of the study. "We saw a patient in clinic with APECED, and we knew she had this clinical picture, but we didn't know why, because all of her genetic testing had been normal," Miller said. In the study, scientists from several countries worldwide performed genetic sequencing on 17 patients who had APECED but didn't have the expected genetic variants.
They discovered that the genetic variance lay in the non-coding region of the AIRE gene, according to the study. "It's not a variant in the expressed gene, but in a non-coding region within the gene, which causes frame-shifting and failure of AIRE gene function, leading to.
