Autoimmune polyendocrine diseases
| Classification according to ICD-10 | |
|---|---|
| E31.0 | Autoimmune polyglandular insufficiency |
| ICD-10 online (WHO version 2019) | |
Polyendocrine autoimmune diseases (syn .: polyendocrine autoimmune syndromes , polyglandular autoimmune syndromes ) are a heterogeneous group of rare diseases that are characterized by immune reactions against one or more endocrine organs. However, non-endocrine organs can also be affected.
APECED
APECED - the abbreviation for the symptom group Autoimmune Polyendocrinopathy-candidiasis-Ectodermal Dystrophy - is a very rare, especially in Finland occurring autoimmune disease . What is special about it is that it is the only known autoimmune disease to be inherited monogenetically ; This means that only one gene is responsible for APECED, while various genetic factors play a role in other diseases of the immune system such as type I diabetes mellitus . APECED therefore strictly follows Mendel's laws in its inheritance . With rare exceptions, APECED is inherited recessively . Because of its monogenetic inheritance, APECED is a model that is often chosen in animal experiments for the investigation of autoimmune diseases.
All APECED patients have a defect in the gene that codes for the AIRE protein. This is a transcription factor , which in the thymus , in the pancreas and in the adrenal cortex expressed is. AIRE is responsible for the fact that non-thymus self-antigens are expressed by thymus stromal cells; The T cells can then use these self-antigens to “learn” which antigens they should not react to outside of the thymus. Patients with APECED have multiple endocrine disruptions , chronic mucocutaneous candidiasis (a fungal infection), and ectodermal dystrophy .
Molecular geneticists have found that the mutation originated around 50 to 60 generations ago. So the disease has been around for around 1000 to 1500 years.
Schmidt syndrome
The Schmidt's syndrome is inherited polygenic. The likelihood of illness correlates with certain MHC genotypes, namely DQ2, DQ8 and DRB1 * 0404.
Symptoms are that
and less often
XPID
The abbreviation stands for X-linked polyendocrinopathy, immunodeficiency and diarrhea syndrome and is the most severe and rarest form of polyendocrine autoimmune diseases. Apparently monogenic; The cause is a mutation in the FOXP3 gene, which is located on the X chromosome and which codes for the forkhead box protein P3 .
Most patients develop diabetes and diarrhea as newborn babies, and many die from autoimmune reactions to many organs in the body. Boys are affected by XPID, while girls are carriers of a defective FOXP3 and only suffer from a mild illness - due to the codomination of the defective FOXP3 in the mother and the normal allele in the father.
Individual evidence
The section "APECED" contains "Gene defect behind APECED: a new clue to autoimmunity" by Petra Björses et al. in Hum Mol Genet . 1998; 7 (10): 1547-53 .
- ↑ MS Anderson, ES Venanzi et al. a .: Projection of an immunological self shadow within the thymus by the aire protein. In: Science. Volume 298, Number 5597, November 2002, pp. 1395-1401, ISSN 1095-9203 . doi : 10.1126 / science.1075958 . PMID 12376594 .
- ↑ a b section translated from http://en.wikipedia.org/w/index.php?title=Autoimmune_polyendocrine_syndrome&oldid=118926424
