I still have an almost full-time challenging career as a scientist and writer. 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. 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. Which other manifestations affect a person, and when the symptoms emerge, is variable. 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.