Autoimmune polyendocrine syndrome type 1, also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), or Whitaker syndrome, is a form of autoimmune polyendocrine syndrome

Autoimmune polyendocrine syndrome

In medicine, autoimmune polyendocrine syndromes are a heterogeneous group of rare diseases characterised by autoimmune activity against more than one endocrine organs, although non-endocrine organs can be affected....

.

Autoimmune polyendocrine syndrome, type 1 is also known as candidiasis

Candidiasis

Thrush redirects here. For the hoof infection see Thrush .Candidiasis or thrush is a fungal infection of any of the Candida species , of which Candida albicans is the most common...

-hypoparathyroidism

Hypoparathyroidism

Hypoparathyroidism is decreased function of the parathyroid glands with under production of parathyroid hormone. This can lead to low levels of calcium in the blood, often causing cramping and twitching of muscles or tetany , and several other symptoms...

-Addison's disease

Addison's disease

Addison’s disease is a rare, chronic endocrine disorder in which the adrenal glands do not produce sufficient steroid hormones...

-syndrome, Autoimmune Polyglandular Syndrome I, APECED, or APS-I. Its main features include:

• A mild immune deficiency, leading to persistent mucosal and cutaneous infections with candida
  Candida (genus)
  Candida is a genus of yeasts. Many species are harmless commensals or endosymbionts of animal hosts including humans, but other species, or harmless species in the wrong location, can cause disease. Candida albicans can cause infections in humans and other animals, especially in immunocompromised...
  
   yeasts. There is also decreased function of the spleen
  Spleen
  The spleen is an organ found in virtually all vertebrate animals with important roles in regard to red blood cells and the immune system. In humans, it is located in the left upper quadrant of the abdomen. It removes old red blood cells and holds a reserve of blood in case of hemorrhagic shock...
  
   (asplenism).
• Autoimmune dysfunction of the parathyroid gland
  Parathyroid gland
  The parathyroid glands are small endocrine glands in the neck that produce parathyroid hormone. Humans usually have four parathyroid glands, which are usually located on the rear surface of the thyroid gland, or, in rare cases, within the thyroid gland itself or in the chest...
  
   (leading to hypocalcaemia
  Hypocalcaemia
  In medicine, hypocalcaemia is the presence of low serum calcium levels in the blood, usually taken as less than 2.1 mmol/L or 9 mg/dl or an ionized calcium level of less than 1.1 mmol/L or 4.5 mg/dL. It is a type of electrolyte disturbance...
  
  ) and the adrenal gland
  Adrenal gland
  In mammals, the adrenal glands are endocrine glands that sit atop the kidneys; in humans, the right suprarenal gland is triangular shaped, while the left suprarenal gland is semilunar shaped...
  
   (Addison's disease: hypoglycemia
  Hypoglycemia
  Hypoglycemia or hypoglycæmia is the medical term for a state produced by a lower than normal level of blood glucose. The term literally means "under-sweet blood"...
  
  , hypotension
  Hypotension
  In physiology and medicine, hypotension is abnormally low blood pressure, especially in the arteries of the systemic circulation. It is best understood as a physiologic state, rather than a disease. It is often associated with shock, though not necessarily indicative of it. Hypotension is the...
  
   and severe reactions in disease).
• Other disease associations are:
  • hypothyroidism
    Hypothyroidism
    Hypothyroidism is a condition in which the thyroid gland does not make enough thyroid hormone.Iodine deficiency is the most common cause of hypothyroidism worldwide but it can be caused by other causes such as several conditions of the thyroid gland or, less commonly, the pituitary gland or...
    
    
  • hypogonadism
    Hypogonadism
    Hypogonadism is a medical term for decreased functional activity of the gonads. Low testosterone is caused by a decline or deficiency in gonadal production of testosterone in males...
    
     and infertility
  • vitiligo
    Vitiligo
    Vitiligo is a condition that causes depigmentation of sections of skin. It occurs when melanocytes, the cells responsible for skin pigmentation, die or are unable to function. The cause of vitiligo is unknown, but research suggests that it may arise from autoimmune, genetic, oxidative stress,...
    
     (depigmentation of the skin)
  • alopecia
    Alopecia
    Alopecia means loss of hair from the head or body. Alopecia can mean baldness, a term generally reserved for pattern alopecia or androgenic alopecia. Compulsive pulling of hair can also produce hair loss. Hairstyling routines such as tight ponytails or braids may induce Traction alopecia. Both...
    
     (baldness)
  • malabsorption
    Malabsorption
    Malabsorption is a state arising from abnormality in absorption of food nutrients across the gastrointestinal tract.Impairment can be of single or multiple nutrients depending on the abnormality...
    
    
  • pernicious anemia
    Pernicious anemia
    Pernicious anemia is one of many types of the larger family of megaloblastic anemias...
    
    
  • chronic active (autoimmune) hepatitis
    Autoimmune hepatitis
    Autoimmune Hepatitis is a disease of the liver that occurs when the body's immune system attacks cells of the liver. Anomalous presentation of human leukocyte antigen class II on the surface of hepatocytes, possibly due to genetic predisposition or acute liver infection, causes a cell-mediated...
    
    

As opposed to type 2

Autoimmune polyendocrine syndrome type 2

Autoimmune polyendocrine syndrome type 2 is a form of autoimmune polyendocrine syndrome.Autoimmune polyendocrine syndrome, type 2 is the most common form of the polyglandular failure syndromes. It is more heterogeneous and has not been linked to one gene...

, this syndrome inherits in an autosomal recessive fashion and is due to a defect in the autoimmune regulator

Autoimmune regulator

The autoimmune regulator is a protein that in humans is encoded by the AIRE gene. AIRE is a transcription factor expressed in the medulla of the thymus and controls the mechanism that prevents the immune system from attacking the body itself....

 (AIRE) a gene

Gene

A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...

 located on the 21st chromosome

Chromosome

A chromosome is an organized structure of DNA and protein found in cells. It is a single piece of coiled DNA containing many genes, regulatory elements and other nucleotide sequences. Chromosomes also contain DNA-bound proteins, which serve to package the DNA and control its functions.Chromosomes...

. The normal function of AIRE, a transcription factor

Transcription factor

In molecular biology and genetics, a transcription factor is a protein that binds to specific DNA sequences, thereby controlling the flow of genetic information from DNA to mRNA...

, is to confer immune tolerance

Immune tolerance

Immune tolerance or immunological tolerance is the process by which the immune system does not attack an antigen. It can be either 'natural' or 'self tolerance', in which the body does not mount an immune response to self antigens, or 'induced tolerance', in which tolerance to external antigens can...

for antigens from endocrine organs by upregulating expression of those antigens in the medulla of the thymus, and promoting apoptosis of autoreacting T cells.

External links

• EurAPS, a EU-funded consortium doing translational research on this condition