Yale Researchers Use Skin as a Window Into Autoimmune Disease — and a Path to Better Treatments

A Yale Medicine Magazine feature published in January 2022 spotlights Yale School of Medicine researchers using the skin as both a diagnostic window and a research entry point into autoimmune disease — including work directly funded by the Colton Center for Autoimmunity at Yale.

The article’s first focus is scleroderma, the autoimmune disease with the highest mortality rate of any in its class. With diffuse scleroderma patients facing an average survival of just ten years, and no effective therapies currently available, researchers Dr. Ian Odell and Professor Richard Flavell are developing a humanized anti-epiregulin antibody — funded by the Colton Center — aimed at reversing the fibrotic skin thickening that defines the disease and preparing it for future clinical trials.

The article also explores a striking intersection between cancer treatment and autoimmune disease. Yale dermatologists Professor Mary Tomayko, Dr. William Damsky, and Dr. Jonathan Leventhal have observed that cancer patients receiving immune checkpoint inhibitor therapy develop bullous pemphigoid — a severe blistering skin condition — at rates up to a thousandfold higher than the general population. Far from viewing this as simply an adverse event, the Yale team believes the mechanism driving this checkpoint-induced autoimmunity may mirror what triggers other autoimmune diseases, including type 1 diabetes and autoimmune thyroid disease.

Emerging evidence also suggests that patients who develop bullous pemphigoid following checkpoint therapy may show stronger overall tumor responses — pointing to a potential early biomarker for treatment efficacy and opening new avenues for precision oncology and autoimmune prevention.