Attenuation of Autoimmune Phenomena in a Patient with Autoimmune Polyglandular Syndrome Type 1

A 6-year-old girl with autoimmune polyglandular syndrome type 1 (APS1) exhibited rapid disease progression, including hypocalcemic seizures, hypoparathyroidism, autoimmune hyposplenism, elevated liver enzymes, primary adrenal insufficiency, and alopecia totalis. Genetic testing confirmed AIRE gene mutations. Treatment with hydrocortisone stabilized her adrenal insufficiency and liver enzymes, while serologic tests showed various autoantibodies. At age 12, after developing alopecia universalis, she received rituximab and started methotrexate treatment. Over the following 7 years, her condition improved with normalization of antibody levels, no new autoimmune diseases, and reversal of alopecia universalis.