[Immune dysregaulation-polyendocrinophaty-enteropahty-X-Linked syndrome]
[IPEX syndrome]
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Today's 'IPex Syndrome'
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Definition
Immune dysregaulation-polyendocrinophaty-enteropahty-X-Linked syndrome (IPEX syndrome) is a congenital systemic autoimmune disease characterized by intractable diarrhea, diabetes, endocrine diseases such as thyroid disease, skin diseases, and infections. Symptoms can vary from patient to patient and can be life-threatening in young children. The incidence rate is not well known, and about 150 cases have been reported so far. Because there is a reflective inheritance genetically, the patient may appear in the male and the female may exist as a carrier.
Cause
Ipex syndrome is an abnormal expression of the FOXP3 gene on the X chromosome. This gene binds to a specific region of regulatory T cells DNA to create a transcription factor that regulates the activity of a specific gene, a transcription factor that regulates the development and function of regulatory T cells do. Regulatory T cells play an important role in the regulation and prevention of autoimmune responses by being involved in the downregulation and self-tolerance of immune responses. Abnormalities in the FOXP3 gene cause the normal function of regulatory T cells to fail, so that the immune response continues even when an immune response is not needed, and eventually attacks normal body tissues and organs, causing various autoimmune symptoms.
Symptom
Symptoms of Ipex syndrome begin to appear days to weeks after birth. There is an immune regulation disorder, but symptoms due to autoimmunity are mainly displayed rather than symptoms of immunodeficiency. Intestinal symptoms are usually uncontrolled diarrhea, which can lead to malabsorption, electrolyte imbalance, and growth disorders. Vomiting, enteritis, or intestinal paralysis may be accompanied. Endocrine diseases cause type 1 diabetes, and hypothyroidism or hyperthyroidism can occur due to thyroiditis. Skin symptoms include severe itchy skin rash and eczema that look like severe atopic dermatitis. Neutrophils, thrombocytopenia, and hemolytic anemia due to autoimmunity may occur, and inflammation of the lungs, liver, kidneys, and muscles may be seen.
Diagnosis/Test
Ipex syndrome can be diagnosed based on characteristic clinical symptoms, family history, physical examination, and various tests. Blood tests may show hemolytic anemia, neutropenia, thrombocytopenia, and an increase in immunoglobulin E and eosinophil counts. Type 1 diabetes mellitus, thyroid dysfunction may be observed, and autoantibodies to pancreatic cells and thyroid may be detected. For intestinal lesions, radiology or endoscopic findings and biopsy may be helpful in diagnosis. If abnormal findings are observed in the test for the FOXP3 gene, it can be confirmed.
Treatment
The cure for Ipex syndrome is hematopoietic stem cell transplantation. In addition, immunosuppressants or immunomodulators, including steroids, may be used to modulate an activated autoimmune state. In addition, for neutropenia, hypothyroidism and hyperthyroidism, and type 1 diabetes, granulocyte colony stimulating factor, thyroid medication, and insulin are required. For skin diseases, topical and conservative treatment should be continued, and appropriate nutritional support is required.
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