Chromosome 21 APS-1 is caused by a mutation in the AIRE gene, encoding a protein called autoimmune regulator. This is found on the 21q22.3 chromosome location, hence chromosome 21. The AIRE gene may be affected by any of at least 90 mutations. Mutations may be inherited in an autosomal recessive manner. Different mutations are more common in different geographic regions. R139X is a common mutation in Sardinia. R257* is a common mutation in Finland.
types of Autoimmune polyendocrine syndrome
symptoms of Autoimmune polyendocrine syndrome type 1
symptom of Autoimmune polyendocrine syndrome type 1
medical cause of Zollinger–Ellison syndrome
complications of Hashimoto's thyroiditis
symptom of Maroteaux–Lamy syndrome
complications of Graves' disease
medical cause of Hyperthyroidism