Polyglandular autoimmune type 1 syndrome .., (Autoimmune polyglandular syndrome, type 1) - AIR gene
Polyglandular autoimmune syndrome type 1 is an inherited autoimmune disease that affects many organs of organimo. In most cases, the signs and symptoms of the syndrome begin in childhood or adolescence. This disease is characterized by three features: mucocutaneous candidiasis, hypoparathyroidism, and Addison 's disease. People usually have at least two of these features, and many have the three manifestations. In children with type 1 autoimmune polyglandular syndrome, infections last long and tend to recur. Many affected children also develop hypoparathyroidism, which can cause a tingling sensation on the lips, fingers, hands and feet, muscle pain and cramps, weakness and fatigue. The third important feature, Addison's disease, is the result of a malfunction of the adrenal glands. The main features of Addison's disease include fatigue, muscle weakness, loss of appetite, weight loss, low blood pressure and changes in skin color. Less commonly, the disease can cause complications that can affect the skin and nails, gonads, eyes, thyroid and digestive system. Type 1 diabetes also occurs in some patients with this disease.
This process is due to mutations in the AIRE gene (21q22.3). This gene encodes a protein called autoimmune regulator, involved in the differentiation between own proteins and cells from foreign invaders, such as bacteria and viruses. Thanks to this differentiation, the immune system is able to identify and destroy potentially harmful invaders without affecting normal tissues.
They have identified 60 mutations in the AIRE gene causing the disease. These mutations reduce or eliminate the function of the autoimmune regulator protein. What causes the immune system to turn against itself and attack its own organs. This reaction is known as autoimmunity, resulting in inflammatory processes and can damage healthy cells and tissues. Damage to the adrenal glands, parathyroid glands and other organs underlies many of the main features of autoimmune polyglandular syndrome, type 1. It is not clear why people with this disease tend to have candidiasis.
This disease is inherited in an autosomal recessive pattern, which means that both copies of the gene in every cell must have mutations for alteration is expressed. The parents of an individual with an autosomal recessive disease have a copy of the mutated gene, but usually show no signs and symptoms of the disease.
Tests in IVAMI: in IVAMI perform detection of mutations associated with autoimmune polyglandular syndrome type 1, by complete PCR amplification of exons AIRE gene and subsequent sequencing.
Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).