A Novel Homozygous Mutation of AIRE Gene in a Patient With Autoimmune Polyglandular Syndrome Type I

Autoimmune polyglandular syndrome type I (APS1) shows common features such as mucocutaneous candidiasis, hypoparathyroidism, and hypoadrenalism. The clinical manifestations and their onset are highly variable. Besides endocrine abnormalities, patients can present with dental problems, keratoconjunctivitis, fever, rash, chronic diarrhea, and autoimmune hepatitis. We discuss the case of a 5year-old female who presented initially with a new-onset seizure due to severe hypocalcemia and was diagnosed with primary hypoparathyroidism. Because she also had a history of chronic mucocutaneous candidiasis, chronic diarrhea, and the presence of autoantibodies tested positive, the diagnosis of APS1 was suspected. Genetic testing detected a novel pathogenic homozygous AIRE mutation, which confirmed the diagnosis. She began multidisciplinary treatment with antifungals, calcium supplements, and parathyroid hormone analogs.

Automated summary

Autoimmune polyglandular syndrome type I (APS1) is a rare disorder characterized by mucocutaneous candidiasis, hypoparathyroidism, and hypoadrenalism. It can also present with other symptoms such as dental problems, keratoconjunctivitis, fever, rash, chronic diarrhea, and autoimmune hepatitis. In this case, a 5-year-old female with a history of chronic mucocutaneous candidiasis and chronic diarrhea was diagnosed with primary hypoparathyroidism. Genetic testing confirmed the diagnosis of APS1 through the detection of a novel pathogenic homozygous AIRE mutation.