Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)
A genetic autoimmune disease with an extraordinary array of clinical features but characterized most often by at least 2 of the following 3 findings: hypoparathyroidism — underfunction of the parathyroid glands which control calcium, candidiasis (yeast infection), and adrenal insufficiency (underfunction of the adrenal gland). APECED was the first systemic (bodywide) autoimmune disease found due to a defect in a single gene. By "autoimmune" is meant that the immune system (which normally wards off foreign invaders of the body) turns and attacks tissues such as skin, joints, liver, lungs, etc.) of the body. Examples of common systemic autoimmune diseases include rheumatoid arthritis, systemic lupus erythematosus, diabetes mellitus, Sjogren syndrome, scleroderma, Goodpasture syndrome, vitiligo, Addison disease, thyroiditis, and many others. In 1997 a novel gene was identified that mapped to chromosome region 21q22.3. The gene was named AIRE for autoimmune regulator. Changes in the AIRE gene are responsible for APECED. APECED is inherited as a recessive trait such that a child with the disease has received 2 changed (mutant) AIRE genes, one from each parent. Although APECED is generally rare, it is more frequent in 3 genetically isolated populations: the Finnish, Iranian Jews, and Sardinians. The child with APECED develops problems in numerous glands (polyglandular) including hypoparathyroidism, hypogonadism (with sex gland failure), adrenal insufficiency, type 1 (insulin-dependent) diabetes with insufficient insulin production by the pancreas gland, and latent hypothyroidism (underfunction of the thyroid gland). Other features of APECED are total baldness (alopecia totalis), inflammation of the cornea and whites of the eye (keratoconjunctivitis), underdevelopment (hypoplasia) of the enamel of the teeth, childhood-onset moniliasis (yeast infection), juvenile-onset pernicious anemia, gastrointestinal problems (malabsorption, diarrhea), and chronic active hepatitis.

Medical dictionary. 2011.

Игры ⚽ Нужна курсовая?

Look at other dictionaries:

  • APECED (autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy) — A genetic autoimmune disease with an extraordinary array of clinical features but characterized most often by at least 2 of the following 3 findings: hypoparathyroidism underfunction of the parathyroid glands which control calcium, candidiasis… …   Medical dictionary

  • Dystrophy, autoimmune polyendocrinopathy-candidiasis-ectodermal (APECED) — A genetic autoimmune disease with an extraordinary array of clinical features but characterized most often by at least 2 of the following 3 findings: hypoparathyroidism underfunction of the parathyroid glands which control calcium, candidiasis… …   Medical dictionary

  • APECED (autoimmune polyendocrinopathy) — 1. The child with APS develops problems in numerous glands (polyglandular) including hypoparathyroidism, hypogonadism (with sex gland failure), adrenal insufficiency, type 1 (insulin dependent) diabetes with insufficient insulin production by the …   Medical dictionary

  • Autoimmune regulator — The Autoimmune Regulator, abbreviated AIRE , is a human gene which is expressed in the thymus. It causes transcription of a wide selection of organ specific genes. This reduces the threat of autoimmunity occurring by allowing the elimination of… …   Wikipedia

  • APECED — autoimmune polyendocrinopathy candidiasis ectodermal dystrophy * * * autoimmune polyendocrinopathy candidiasis–ectodermal dysplasia; autoimmune polyendocrinopathy candidiasis–ectodermal dystrophy …   Medical dictionary

  • APECED — • autoimmune polyendocrinopathy candidiasis ectodermal dystrophy …   Dictionary of medical acronyms & abbreviations

  • APECED — Polyendokrine Autoimmunerkrankungen sind eine heterogene Gruppe von seltenen Krankheiten, welche sich durch Immunreaktionen gegen ein oder mehrere endokrine Organe auszeichnen. Nicht endokrine Organe können aber auch betroffen sein.… …   Deutsch Wikipedia

  • APS (autoimmune polyglandular syndrome) — 1. A genetic autoimmune disease with an extraordinary array of clinical features but characterized most often by at least 2 of the following 3 findings: hypoparathyroidism underfunction of the parathyroid glands which control calcium, candidiasis …   Medical dictionary

  • Thymus-Epithelzelle — Thymus Epithelzellen spielen bei der Selbsttoleranz eine wichtige Rolle. Anders als in allen anderen bekannten Zellen werden in medullären Thymus Epithelzellen Eiweiße (Proteine) gebildet, die für die Zelle selbst keine Funktion haben. Sie werden …   Deutsch Wikipedia

  • List of cutaneous conditions — This is an incomplete list, which may never be able to satisfy particular standards for completeness. You can help by expanding it with reliably sourced entries. See also: Cutaneous conditions, Category:Cutaneous conditions, and ICD 10… …   Wikipedia

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”