IPEX syndrome immunodysregulation, polyendocrinopathy and enteropathy, X - linked (IPEX, Immune dysregulation, polyendocrinopathy, enteropathy syndrome X-linked) - FOXP3 gene.
Immunodysregulation syndrome, polyendocrinopathy and enteropathy, X - linked (IPEX) is characterized by the development of multiple autoimmune diseases in affected individuals. Although this syndrome can affect many different areas of the body, the most common include the intestines, skin and endocrine glands. Most patients with IPEX syndrome are male and disease can be life threatening in early childhood.
Almost all people with this condition develop enteropathy. Enteropathy happens when cells in the intestines are destroyed by the immune system of a person, causing severe diarrhea. Overall, enteropathy begins in the first months of life and can cause stunting and wasting. Often, people with IPEX syndrome have dermatitis. Eczema is the most common type of dermatitis that occurs in this syndrome. Other skin disorders that cause similar symptoms sometimes present in IPEX. Meanwhile, the term is used in IPEX polyendocrinopathy because individuals can develop multiple alterations of the endocrine glands. These alterations may include type 1 diabetes mellitus, autoimmune thyroid disease, hypothyroidism and hyperthyroidism. People with IPEX syndrome often develop other types of autoimmune disorders, as well as those involving the intestines, skin and endocrine glands. These alterations may include anemia, thrombocytopenia or neutropenia. In some individuals, the syndrome can also affect the liver and kidneys.
This process is due to mutations in the FOXP3 gene, located on the short arm of chromosome X (Xp11.23). This gene encodes the protein "P3 forkhead" (FOXP3), which is a transcription factor. This protein is essential for coding and normal function of certain immune cells called regulatory T cells, which play an important role in the prevention of autoimmunity. Foxp3 is primarily in the thymus, where regulatory T cells are encoded.
They have identified at least 21 mutations in the FOXP3 gene in people with IPEX syndrome. Most mutations change amino acids in the protein that binds to DNA or coding result of an abnormally short, nonfunctional protein. These changes result in a small number or a total absence of regulatory T cells. Without the proper amount of regulatory T cells, the organism can not control immune responses. Accordingly, the tissues and organs of the body are attacked, leading to multiple autoimmune disorders present in persons with IPEX syndrome. Approximately half of those diagnosed with IPEX syndrome have not been identified mutations in the FOXP3 gene. In these cases, the cause of the disease is unknown.
When IPEX is due to mutations in the FOXP3 gene is inherited recessive pattern with an X - linked In males, an altered copy of the gene in each cell is sufficient to cause disease. In women, a mutation must be present in both copies of the gene result in the alteration. Males are affected by X - linked recessive disorders much more frequently than women. A feature of the X - linked inheritance is that fathers can not pass X - linked traits to their sons chromosome. Some people have a condition that looks identical to IPEX, but have mutations in the FOXP3 gene. The inheritance pattern in this case is unknown, but women can be affected.
Tests in IVAMI: in IVAMI perform detection of mutations associated with syndrome immunodysregulation, polyendocrinopathy and enteropathy, X - linked (IPEX), by complete PCR amplification of the exons of FOXP3, and subsequent sequencing.
Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).