Search results
Results from the WOW.Com Content Network
R139X is a common mutation in Sardinia. [4] R257* is a common mutation in Finland. [5] Both of these mutations are nonsense mutations: the asterisk and the "X" both indicate a stop codon. [7] A 13-base-pair deletion in the AIRE gene, c.967-979del13bp, has been identified in APS-1 patients in Norway, Britain [8] and North America. [9] [10]
Autoimmune polyendocrine syndrome type 2, [7] an autosomal dominant syndrome due to multifactorial gene involvement resulting in adrenal insufficiency plus hypothyroidism and/or type 1 diabetes. Immunodysregulation polyendocrinopathy enteropathy X-linked syndrome (IPEX syndrome) is X-linked recessive due to mutation of the FOXP3 gene on the X ...
The most common exonic mutations of AIRE occur on exons 1, 2, 6, 8, and 10. Exons 1 and 2 encode the HSR, exon 6 encodes the SAND domain, exon 8 is in the PHD-1 domain, and exon 10 is located in the proline-rich region between the two PHD finger domains. [27] Known mutations in AIRE include Arg139X, Arg257X, and Leu323SerfsX51. [28]
Antiphospholipid syndrome is known for causing arterial or venous blood clots, in any organ system, and pregnancy-related complications.While blood clots and pregnancy complications are the most common and diagnostic symptoms associated with APS, other organs and body parts may be affected like platelet levels, heart, kidneys, brain, and skin.
Autoimmune polyendocrine syndrome type 2, a form of autoimmune polyendocrine syndrome also known as APS-II, or PAS II, is the most common form of the polyglandular failure syndromes. [2] PAS II is defined as the association between autoimmune Addison's disease and either autoimmune thyroid disease , type 1 diabetes , or both. [ 5 ]
APS-3: Type 1 diabetes, atrophic gastritis, pernicious anemia, vitiligo, alopecia, and myasthenia gravis, and autoimmune thyroid disease; Addison's disease and/or hypoparathyroidism are not included in this association. [4] APS-4: Combinations that weren't in the earlier groups. [4]
It is caused by a deletion in Xq22.3, comprising several genes including AMME chromosomal region gene 1 (AMMECR1), which encodes a protein with a nuclear location and presently unknown function. The C-terminal region of AMMECR1 (from residue 122 to 333) is well conserved, and homologues appear in species ranging from bacteria and archaea to ...
Type 1 diabetes is an autoimmune disease where the body attacks the beta-cells produced by the pancreas; therefore, causing the body to have insulin deficiency. [130] Type 1 diabetes is mainly diagnosed in children, and the number of diagnoses is increasing all around the world. [130]