Detection of AIRE mutation in atypical autoimmune polyglandular syndrome type 1 (APS1)

We describe several members of a family in which the R257X mutation in the AIRE gene responsible for autoimmune polyglandular syndrome type 1 (APS1) was found. The daughter, who is homozygous for the mutation, presented with a range of clinical pathology, including immunoglobulin deficiencies, mucocutaneous candidiaisis and hypothyroidism. Although this patient does not meet the strict clinical diagnostic criteria of APS1, genetic testing made a definitive diagnosis of APS1 and suggested that other APS1 component diseases may appear in this patient in the future. Our study demonstrates the power of screening for the AIRE mutations in all patients who present with one or more APS1-component diseases; genetic testing may become a part of routine clinical care for all such patients.