The AIRE gene provides instructions for making a protein called the autoimmune regulator. This protein is active primarily in the thymus, which is a gland located behind the breastbone that plays an important role in immune system function. Specifically, the thymus produces infection-fighting cells called T cells.
For a person to remain healthy, immune system cells such as T cells must be able to identify and destroy potentially harmful invaders (such as bacteria and viruses) while sparing the body's normal tissues. The autoimmune regulator protein plays an important role in this process by helping T cells distinguish the body's own proteins from those of foreign invaders. When this system is working properly, it prevents the immune system from turning against itself and attacking healthy tissues by mistake. This abnormal reaction is called autoimmunity. In the thymus, the autoimmune regulator protein helps control the activity of certain genes that protect against autoimmunity.
Researchers continue to study the autoimmune regulator protein to clarify its role in autoimmunity and to determine whether it has additional functions.
More than 60 mutations in the AIRE gene have been identified in people with autoimmune polyglandular syndrome, type 1. Some of these genetic changes lead to the production of an abnormally short, nonfunctional version of the autoimmune regulator protein. Other mutations change single protein building blocks (amino acids) in critical regions of the protein.
AIRE mutations reduce or eliminate the function of the autoimmune regulator protein. Without enough of this protein, the immune system can malfunction, resulting in autoimmunity. This abnormal reaction leads to inflammation and can damage otherwise healthy cells and tissues. For reasons that are unclear, defects in the autoimmune regulator protein primarily affect hormone-producing (endocrine) glands. Damage to endocrine glands, including the adrenals, parathyroids, and thyroid, underlies many of the major features of autoimmune polyglandular syndrome, type 1.
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