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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 APS
aid understanding of causation as well as
provide the means for genetic counseling or
even gene therapy in the 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. 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.
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