Carrier rate in Iranian Jews:
Approximately 1 in 50

Disease frequency:
Approximately 1 in 2500 Iranian Jewish couples are at-risk of having a child affected with this condition.

Carrier rate in the general population:
Unknown

Other ethnic groups in which it occurs:
All ethnic groups.

Inheritance:
Autosomal recessive

Age of onset of symptoms:
Type I occurs during childhood. In the Iranian Jewish population it is usually diagnosed in adults.

Symptoms:
Depending upon which glands are affected, this condition can be characterized by many symptoms, including any of the following: skin infections, fatigue, muscle weakness, loss of appetite, nausea, vomiting, tightness/tingling of the lip or fingers, twitching and painful spasms in the muscles, dehydration, anxiety/ depression, hair loss, and infertility. In the IJ population symptoms are mostly adult onset with hypoparathyroidism and rarely have adrenal involvement; also mild candidiasis, pernicious anemia, hypothyroidism and alopecia may occur.

Average lifespan:
With careful hormonal replacement, normal growth, development and lifespan is expected.

What causes the features of the disease:
The underlying autoimmune reaction involves autoantibodies against endocrine tissues, cell-mediated autoimmunity, or both and leads to inflammation, lymphocytic infiltration, and partial or complete gland destruction. More than one endocrine gland is involved, although clinical manifestations are not always simultaneous. The autoimmune reaction and associated immune system dysfunction can also damage nonendocrine tissues.

Treatment or management:
Fortunately there are replacements available for all the missing hormones. Careful balancing of them all can provide a reasonably comfortable quality of life for these patients.

Carrier testing - number of mutations screened for and detection rate in the Iranian Jewish population:
The defective gene in Type I also known as Autoimmune polyendocrinopathy-candidiasis-ectodermal
dystrophy (APECED) common to Iranian Jews is called AIRE (autoimmune regulator gene).

Other testing information:
Carrier testing is available to individuals with a family history of the disease. Testing is available to those with a previously affected child or to couples found to be at risk as carriers.
Diagnosis is suggested clinically and confirmed by detecting deficient hormone levels or sometimes autoantibody titers.

Current research:


For more information:
Genetic and Rare Diseases (GARD) Information Center:
   rarediseases.info.nih.gov
Genetics Home Reference:
   ghr.nlm.nih.gov