Genetic cause for rare skin condition points to new therapeutic option

MedicalXpress | 六月 15, 2026

An international team of researchers report in the journal Nature Immunology that a mutation in the gene OTULIN causes pediatric-onset pyoderma gangrenosum, characterized by recurrent ulcerating skin sores. They classify the condition as a new inborn error of immunity (IEI)—one of a group of more than 500 genetic disorders that impair the development or function of the immune system.