Autoimmune Polyglandular Syndrome…Exploring Autoimmunity

December 5, 1997) - Autoimmune polyglandular syndrome type I (APS 1) is a mouthful. It also goes by the even more cumbersome name of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). Even though APS 1 is a rare disease, it is important to geneticists and immunologists because APS 1 is the first and only systemic (bodywide) autoimmune disease whose cause has been attributable to a defect in a single gene.

By "autoimmune" is meant that the immune system (which normally wards off foreign invaders of the body, such as infections) turns and attacks tissues (such as skin, joints, liver, lungs, etc.) of the body. Examples of common systemic autoimmune diseases include rheumatoid arthritis, systemic lupus erythematosus, diabetes mellitus, Sjogren's syndrome, scleroderma, Goodpasture's syndrome, vitiligo, Addison's disease, thyroiditis, and many others.

Chromosomes (located inside every cell in the body) contain genetic information inherited from each parent. Humans have 23 pairs of chromosomes (one chromosome inherited from each parent). Different regions on the chromosomes contain genes for diverse traits (hair color, eye color, height, blood groups, etc.). Changes (mutations) in these genes can cause disease. By locating (mapping), isolating and sequencing genes and analyzing the ways in which they act, scientists aim to understand (on the molecular, genetic and clinical levels) the causes of many diseases. And they hope to understand the predispositions (tendencies) to even more diseases.