Autoimmune polyendocrine syndrome type 1 (APS-1; OMIM #240300), also referred to 
as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), is a 
rare monogenic autoimmune disorder caused by mutations in the autoimmune 
regulator (AIRE) gene. APS-1 is classically characterized by a triad of chronic 
mucocutaneous candidiasis, autoimmune hypoparathyroidism, and autoimmune 
adrenocortical insufficiency. We report a 5-yr-old female who presented with 
symptoms of tetany due to hypocalcemia and was subsequently found to be 
secondary to hypoparathyroidism. Rapid trio whole-genome sequencing revealed 
compound heterozygous variants in AIRE in the proband, with a paternally 
inherited, pathogenic, frameshift variant (c.1265delC; p.Pro422LeufsTer58) and a 
novel, likely pathogenic, maternally inherited missense variant (c.268T>C; 
p.Tyr90His).