Autoimmune polyendocrine syndrome

Polyendokrine Autoimmune diseases are a heterogeneous group of rare diseases which are characterized by immune reactions against one or more endocrine organs. Non- endocrine organs may also be affected.

APECED

APECED - the abbreviation for the symptom group Autoimmune Polyendocrinopathy - Candidiasis - Ectodermal Dystrophy - is a very rare, occurring only in Finland autoimmune disease. The special thing about it is that it is inherited as the only previously known autoimmune disease monogenic; This means that only one gene responsible for APECED, while in other diseases of the immune system, such as diabetes mellitus type I join various genetic factors. APECED follows in its inheritance therefore strictly the Mendelian laws. APECED is inherited recessively. On the basis of monogenic inheritance APECED is a Animal testing often chosen for the study of autoimmune disease model.

All APECED patients have a defect in the gene coding for the AIRE protein. This is a transcription factor which is expressed in the thymus, the pancreas and the adrenal cortex. AIRE is responsible for ensuring that foreign - thymic self- antigens are expressed by thymic stromal cells; T cells can then "learn" based on these self- antigens to which antigens they should not react outside the thymus. Patients with APECED suffer from multiple disorders of the endocrine hormone system, chronic mucocutaneous candidiasis ( a fungal infection) and ectodermal dystrophy.

Molecular geneticists have found that the mutation is formed about 50 to 60 generations. The disease so there since about 1000 to 1500 years.

Schmidt's syndrome

The Schmidt's syndrome is inherited polygenic. The probability of disease correlated with certain MHC genotypes, namely DQ2, DQ8 and DRB1 * 0404th

Symptoms are the

  • Addison 's disease
  • Hypothyroidism
  • Diabetes mellitus type 1

And rare

  • Hypogonadism
  • Vitiligo

XPID

The abbreviation stands for X -linked polyendocrinopathy, diarrhea and immunodeficiency syndrome and is the most severe and rarest form of polyendokrinen autoimmune diseases. Apparently monogenisch; Cause mutation in the FOXP3 gene, which is located on the X chromosome and codes for the Forkhead box protein P3.

Most patients develop diabetes and diarrhea already as newborns and many die due to autoimmune reactions against many organs of the body. Boys are affected by XPID, while girls are carriers of a defective FOXP3 and suffer only a mild disease - because of co-dominance of defective FOXP3 of the mother and of the normal allele of the father.

Credentials

The section " APECED " lies "Gene defect behind APECED: a new clue to autoimmunity " by Petra Björses et al. Hum Mol Genet in. 1998, 7 (10) :1547-53 basis.

  • Autoimmune
  • Disease in endocrinology
Recessive trait Addison's disease Digital Object Identifier
72004
de