The anti-NALP5 antibodies, described in the literature as being very specific for APECED syndrome (100%) and a good predictive marker of parathyroid involvement (48-51), were present in only 7/18 (39%) patients tested and in 5/22 (23%) patients with hypoparathyroidism. Here, NLRP5 is linked to autoimmune polyendocrine syndrome type 1.