The disease results because of mutations in just one gene, which makes the AIRE autoimmune regulator protein.  Inheritence is autosomal recessive.  That means that both parents have at least one faulty gene for the AIRE protein.  If a child inherits the faulty gene from both parents (a 1/4 chance), APECED results.   Confirmation of the diagnosis is now possible by genetic testing.

Symptoms typically begin in childhood.The first signs in a young child can be one or several fits due to low blood calcium. If the cause is not recognised, death results. 

The most common features of APECED are parathyroid gland failure (affects calcium metabolism, including tooth enamel and nails), chronic susceptibility to candida yeast infection, and Addison's disease (adrenal failure).

Which other manifestations affect a person, and when the symptoms emerge, is variable.  Options include alopecia (total hair loss), vitiligo (blotchy loss of skin pigment), ovarian failure, testicular atrophy, hypothyroidism, gastric parietal cell atrophy, hepatitis, intestinal malabsorption, insulin-dependent diabetes mellitus, sore light-sensitive eyes.

Why some people have the full constellation of problems, and others do not, is not yet understood.  Part of the explanation may be the type of mutation in the gene for the AIRE protein.  But there are also interactions going on with other genes, which need to be identified.
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*APECED = 
autoimmune endocrinopathy-candidiasis-ectodermal dystrophy

**APS1 = 
autoimmune polyendocrine syndrome type 1

***PGA1=
polyglandular autoimmunity type 1
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APECED takes its toll on the functioning of many glands and organs over a lifetime.  Living healthily with the disorder requires:

* constant discipline

* shouldering disappointment when downtimes hit.

* understanding the juggling act to best manage medications every day.

*understanding the interactions between some of the disease components.

* coping with fears, frustrations, and delays when health professionals we encounter don't have the experience with APECED to know what is best for us. 

* acknowledging that we need life long support and monitoring for development of new symptoms.
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APECED need not trap our minds and our dreams.  The relentless nudging from a chronic disorder like APECED can either beat us, or it can take us to the heights and depths where dreams can become reality.

Research is close to understanding how the AIRE regulator protein works. There is hope from current research that in the not too distant future, appropriate immunosuppressives may significantly tame the destructive autoimmune process.

I passionately value quality of life.  I despair at the waste of time and effort, knowing others have to trudge the same hard path to learn how to live harmoniously with APECED.  Sound information empowers us to live longer, happier, and more productive lives.