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

December 2021 in “ Case reports in endocrinology ”

Jill D. Jacobson, Julia Broussard, Courtney Marsh, Brandon Newell

alopecia totalis alopecia universalis rituximab methotrexate autoimmune polyglandular syndrome type 1 AIRE gene mutations hydrocortisone primary adrenal insufficiency APS1 AIRE mutations

TLDR The girl's condition improved with treatment, showing no new autoimmune diseases and hair regrowth.

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.

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