The purpose of this survey is to learn more about the development of autoimmune polyglandular syndromes (APS). APS encompasses a variety of diseases such as Addison’s disease, hypoparathyroidism, hypogonadism, insulin-dependent diabetes, autoimmune thyroid diseases, hypopituitarism, and skin diseases such as vitiligo (patches of white skin), alopecia (loss of patches of hair) and persistent candidiasis (yeast infections) which may appear at different ages throughout life. The identification of autoantigens in APS will improve the methods of diagnosis and suggest strategies aimed at disease prevention using antigen specific therapies. Identification of the genes involved with aid understanding of causation as well as provide the means for genetic counslling or even gene therapy in future. Therefore, genetic studies, antibody studies as well as disease process studies need to be conducted for these reasons.
Genetic Studies: The gene for APS-1 has been discovered and is located on chromosome 21p22.3. It is called the autoimmune regulator (AIRE) gene. Our efforts are aimed at learning about the normal function of the gene and to determine why it causes APS-1 disease when it is defective. Some genes for APS-2 have been identified, and these belong to the human leukocyteantigen (HLA) gene on chromosome 6p. In this instance, we are trying to find out which of these genes cause which disease, and to locate any other genes possibly responsible.
Antibody Studies: Individuals with autoimmune Addison’s disease develop antibodies to their own adrenal glands and to an enzyme called 21-hydroxylase. Individuals with APS develop numerous other antibodies some of which have not been identified. More needs to be learned about these antibodies and their relation to disease.
Disease Process Studies (Pathogenesis): Individuals with the above mentioned diseases have an immune system disorder. Therefore, efforts have been placed in identifying the immunological abnormalities responsible and to develop therapies to treat them.
In order for us to learn more about the autoimmune polyglandular syndromes and component diseases such as Addison’s disease. It is important that one may be able to study many affected patients and their families. Those interested should contact either of the following: