Search results
Results From The WOW.Com Content Network
Immunodysregulation polyendocrinopathy enteropathy X-linked syndrome (IPEX syndrome) is a rare autoimmune disease.It is one of the autoimmune polyendocrine syndromes.Most often, IPEX presents with autoimmune enteropathy, dermatitis (eczema), and autoimmune endocrinopathy (most often Type 1 diabetes), but other presentations exist.
Generally, diseases outlined within the ICD-10 codes E00-E35 within Chapter IV: Endocrine, nutritional and metabolic diseases should be included in this category. Subcategories This category has the following 12 subcategories, out of 12 total.
[7] [8] Furthermore, the human leukocyte antigen involved in this condition are HLA-DQ2(DR3 (DQB*0201)) and HLA-DQ8(DR4 (DQB1*0302)), [9] genetically speaking, which indicates this is a multifactorial disorder, as well. [1] [10] Should any affected organs show chronic inflammatory infiltrate (lymphocytes), this would be an indication.
Generally, diseases outlined within the ICD-10 codes E00-E90 within Chapter IV: Endocrine, nutritional and metabolic diseases should be included in this category. Subcategories This category has the following 5 subcategories, out of 5 total.
It causes the dysfunction of multiple endocrine glands due to autoimmunity. It is a genetic disorder, inherited in autosomal recessive fashion due to a defect in the AIRE gene (autoimmune regulator), which is located on chromosome 21 and normally confers immune tolerance. [1] [2] [3]
[10] It has been suggested that this is due to abnormalities in the secretion of secretin in the brain and that "Secretin as a neurosecretory hormone from the posterior pituitary, therefore, could be the long-sought vasopressin independent mechanism to solve the riddle that has puzzled clinicians and physiologists for decades."
Endocrine disorders are often quite complex, involving a mixed picture of hyposecretion and hypersecretion because of the feedback mechanisms involved in the endocrine system. For example, most forms of hyperthyroidism are associated with an excess of thyroid hormone and a low level of thyroid stimulating hormone .
Immunodysregulation polyendocrinopathy enteropathy X-linked syndrome (IPEX syndrome) is X-linked recessive due to mutation of the FOXP3 gene on the X chromosome. Most patients develop diabetes and diarrhea and many die due to autoimmune activity against many organs. Boys are affected, while girls are carriers and might experience mild disease.