Patent ID: 7785789

Claim:
A method of diagnosing autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) in a human subject, comprising detecting in a biological specimen from the subject: a) homozygosity of a C to T mutation at position 905 of SEQ ID NO:1 (Arg to “Stop” nonsense mutation at amino acid position 257 of SEQ ID NO:2); or b) heterozygosity of a C to T mutation at position 905 of SEQ ID NO:1 (Arg to “Stop” nonsense mutation at amino acid position 257 of SEQ ID NO:2) and an A to G mutation at position 383 of SEQ ID NO:1 (Lys to Glu missense mutation at amino acid position 83 of SEQ ID NO:2); wherein detection of a) or b) indicates a diagnosis of APECED in said subject.