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Autoimmune polyglandular syndrome, type 1

Reviewed August 2007

What is autoimmune polyglandular syndrome, type 1?

Autoimmune polyglandular syndrome, type 1 is an inherited condition that affects many of the body's organs. It is one of many autoimmune diseases, which are disorders that occur when the immune system malfunctions and attacks the body's tissues and organs by mistake.

In most cases, the signs and symptoms of autoimmune polyglandular syndrome, type 1 begin in childhood or adolescence. This condition is characterized by three specific features: mucocutaneous candidiasis, hypoparathyroidism, and Addison disease. Affected individuals typically have at least two of these features, and many have all three.

Mucocutaneous candidiasis is a fungal infection that affects the skin and mucous membranes, such as the moist lining of the nose and mouth. In children with autoimmune polyglandular syndrome, type 1, these infections last a long time and tend to recur. Many affected children also develop hypoparathyroidism, which is a malfunction of the parathyroid glands. These glands secrete a hormone that regulates the body's use of calcium and phosphorus. Hypoparathyroidism can cause a tingling sensation in the lips, fingers, and toes; muscle pain and cramping; weakness; and fatigue. The third major feature, Addison disease, results from a malfunction of the small hormone-producing glands on top of each kidney (adrenal glands). The main features of Addison disease include fatigue, muscle weakness, loss of appetite, weight loss, low blood pressure, and changes in skin coloring.

Autoimmune polyglandular syndrome, type 1 can cause a variety of additional signs and symptoms, although they occur less often. Complications of this disorder can affect the skin and nails, the gonads (ovaries and testicles), the eyes, a butterfly-shaped gland at the base of the neck called the thyroid, and the digestive system. Type 1 diabetes also occurs in some patients with this condition.

How common is autoimmune polyglandular syndrome, type 1?

Autoimmune polyglandular syndrome, type 1 is thought to be a rare condition, with about 500 cases reported worldwide. This condition occurs more frequently in certain populations, including Iranian Jews, Sardinians, and Finns.

What genes are related to autoimmune polyglandular syndrome, type 1?

Mutations in the AIRE gene cause autoimmune polyglandular syndrome, type 1.

The AIRE gene provides instructions for making a protein called the autoimmune regulator. As its name suggests, this protein plays a critical role in regulating certain aspects of immune system function. Specifically, it helps the body distinguish its own proteins and cells from those of foreign invaders (such as bacteria and viruses). This distinction is critical because to remain healthy, a person's immune system must be able to identify and destroy potentially harmful invaders while sparing the body's normal tissues.

Mutations in the AIRE gene reduce or eliminate the function of the autoimmune regulator protein. Without enough of this protein, the immune system can turn against itself and attack the body's own organs. This reaction, which is known as autoimmunity, results in inflammation and can damage otherwise healthy cells and tissues. Damage to the adrenal glands, parathyroid glands, and other organs underlies many of the major features of autoimmune polyglandular syndrome, type 1. It remains unclear why people with this condition tend to get candidiasis infections.

Although most of the characteristic features of autoimmune polyglandular syndrome, type 1 result from mutations in the AIRE gene, researchers believe that variations in other genes may help explain why the signs and symptoms of this condition can vary among affected individuals.

Related Gene(s)

Changes in this gene are associated with autoimmune polyglandular syndrome, type 1.

  • AIRE

How do people inherit autoimmune polyglandular syndrome, type 1?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about diagnosis or management of autoimmune polyglandular syndrome, type 1?

These resources address the diagnosis or management of autoimmune polyglandular syndrome, type 1, and may include treatment providers.

  • Genetic Testing Registry: Autoimmune polyglandular syndrome type 1, autosomal dominant (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1855869)
  • Genetic Testing Registry: Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia (http://www.ncbi.nlm.nih.gov/gtr/conditions/C2749602)
  • Genetic Testing Registry: Polyglandular autoimmune syndrome, type 1 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0085859)
  • MedlinePlus Encyclopedia: Addison's Disease (http://www.nlm.nih.gov/medlineplus/ency/article/000378.htm)
  • MedlinePlus Encyclopedia: Autoimmune Disorders (http://www.nlm.nih.gov/medlineplus/ency/article/000816.htm)
  • MedlinePlus Encyclopedia: Cutaneous Candidiasis (http://www.nlm.nih.gov/medlineplus/ency/article/000880.htm)
  • MedlinePlus Encyclopedia: Hypoparathyroidism (http://www.nlm.nih.gov/medlineplus/ency/article/000385.htm)

You might also find information on the diagnosis or management of autoimmune polyglandular syndrome, type 1, in Educational resources (http://ghr.nlm.nih.gov/condition/autoimmune-polyglandular-syndrome-type-1/show/Educational+resources) and Patient support (http://ghr.nlm.nih.gov/condition/autoimmune-polyglandular-syndrome-type-1/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about autoimmune polyglandular syndrome, type 1?

You may find the following resources about autoimmune polyglandular syndrome, type 1, helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for autoimmune polyglandular syndrome, type 1?

  • AIRE deficiency
  • APECED
  • APS1
  • APS type 1
  • Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy
  • Autoimmune Polyendocrinopathy Syndrome Type 1
  • Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy
  • Autoimmune Syndrome Type I, Polyglandular
  • PGA I
  • Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophy, Autoimmune
  • Polyglandular autoimmune syndrome, type 1
  • Polyglandular Type I Autoimmune Syndrome

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about autoimmune polyglandular syndrome, type 1?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/gard).

What glossary definitions help with understanding autoimmune polyglandular syndrome, type 1?

adrenal glands ; autoimmune ; autoimmunity ; autosomal ; autosomal recessive ; bacteria ; calcium ; candidiasis ; cell ; deficiency ; diabetes ; digestive ; digestive system ; gene ; hormone ; hypoparathyroidism ; immune system ; infection ; inflammation ; inherited ; kidney ; mucocutaneous ; mucous ; parathyroid ; phosphorus ; protein ; recessive ; syndrome ; testicles ; thyroid

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References

  • DeVoss JJ, Anderson MS. Lessons on immune tolerance from the monogenic disease APS1. Curr Opin Genet Dev. 2007 Jun;17(3):193-200. Epub 2007 Apr 26. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17466510?dopt=Abstract)
  • Eisenbarth GS, Gottlieb PA. Autoimmune polyendocrine syndromes. N Engl J Med. 2004 May 13;350(20):2068-79. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15141045?dopt=Abstract)
  • Mathis D, Benoist C. A decade of AIRE. Nat Rev Immunol. 2007 Aug;7(8):645-50. Epub 2007 Jul 20. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17641664?dopt=Abstract)
  • Peterson P, Peltonen L. Autoimmune polyendocrinopathy syndrome type 1 (APS1) and AIRE gene: new views on molecular basis of autoimmunity. J Autoimmun. 2005;25 Suppl:49-55. Epub 2005 Nov 14. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16290093?dopt=Abstract)
  • Ruan QG, She JX. Autoimmune polyglandular syndrome type 1 and the autoimmune regulator. Clin Lab Med. 2004 Mar;24(1):305-17. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15157567?dopt=Abstract)
  • Stolarski B, Pronicka E, Korniszewski L, Pollak A, Kostrzewa G, Rowińska E, Włodarski P, Skórka A, Gremida M, Krajewski P, Ploski R. Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalence. Clin Genet. 2006 Oct;70(4):348-54. (http://www.ncbi.nlm.nih.gov/pubmed/16965330?dopt=Abstract)
  • Villaseñor J, Benoist C, Mathis D. AIRE and APECED: molecular insights into an autoimmune disease. Immunol Rev. 2005 Apr;204:156-64. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15790357?dopt=Abstract)
  • Wolff AS, Erichsen MM, Meager A, Magitta NF, Myhre AG, Bollerslev J, Fougner KJ, Lima K, Knappskog PM, Husebye ES. Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene. J Clin Endocrinol Metab. 2007 Feb;92(2):595-603. Epub 2006 Nov 21. (http://www.ncbi.nlm.nih.gov/pubmed/17118990?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: August 2007
Published: March 23, 2015