Learn About IPEX Syndrome
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome primarily affects males and is caused by problems with the immune system. The immune system normally protects the body from foreign invaders, such as bacteria and viruses, by recognizing and attacking these invaders and clearing them from the body. However, the immune system can malfunction and attack the body's own tissues and organs instead, which is known as autoimmunity. IPEX syndrome is characterized by the development of multiple autoimmune disorders in affected individuals. Although IPEX syndrome can affect many different areas of the body, autoimmune disorders involving the intestines, skin, and hormone-producing (endocrine) glands occur most often. IPEX syndrome can be life-threatening in early childhood.
Mutations in the FOXP3 gene cause IPEX syndrome. The protein produced from this gene is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. This protein is essential for the production and normal function of certain immune cells called regulatory T cells. Regulatory T cells play an important role in controlling immune responses and preventing autoimmune disorders. Mutations in the FOXP3 gene impair the normal function of regulatory T cells, making it difficult for the body to turn off immune responses when they are not needed. Normal body tissues and organs are attacked, causing the multiple autoimmune disorders that develop in people with IPEX syndrome.
IPEX syndrome is a rare disorder that affects an estimated 1 in 1.6 million people.
IPEX syndrome is inherited in an X-linked recessive pattern. The FOXP3 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
Laura Passerini practices in Milan, Italy. Ms. Passerini is rated as an Elite expert by MediFind in the treatment of IPEX Syndrome. Her top areas of expertise are IPEX Syndrome, Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Diarrhea, Type 1 Diabetes (T1D), and Bone Marrow Transplant.
Piedmont Physicians Endocrinology Columbus
Benjamin Dennis, M.D., is board certified in Endocrinology, Diabetes, Metabolism and Internal Medicine by the American Board of Internal Medicine. He grew up in Georgia and has lived in Columbus since 2013. He completed his endocrine fellowship at the Medical College of Georgia. Dr. Dennis sees patients in consultation for conditions including diabetes, thyroid and parathyroid disorders, adrenal disorders and pituitary disorders. Dr. Dennis has a particular interest in thyroid disease; he is ECNU-certified and oversees the thyroid/parathyroid ultrasound department at the practice.Dr. Dennis does not provide primary care services and encourages all his patients to maintain a primary care physician. Although Dr. Dennis welcomes any consultation desired by a patient or their doctor, he does NOT generally provide the following services: wellness medicine, weight loss, T3, adrenal fatigue, non-FDA approved Testosterone or Growth Hormone or PED's. Dr. Dennis is rated as an Advanced provider by MediFind in the treatment of IPEX Syndrome. His top areas of expertise are Thyroid Nodule, Familial Isolated Hyperparathyroidism, Parathyroid Hyperplasia, and Thyroid Storm.
Piedmont Physicians Endocrinology Columbus
Steven Leichter, M.D., is a nationally recognized, board certified endocrinologist and Fellow of the American College of Physicians and American College of Clinical Endocrinologists. Dr. Leichter has a special interest in treating metabolic diseases and osteoporosis. Other specialty areas include hormonal evaluations of orthostatic hypotension and tachycardia, metabolic evaluation of kidney stones and diagnostic challenges. He has published over 80 papers and continues to carry out clinical research.Dr. Leichter is married and has five children, nine grandchildren, two great grandchildren and one dog. Dr. Leichter is rated as an Advanced provider by MediFind in the treatment of IPEX Syndrome. His top areas of expertise are Type 1 Diabetes (T1D), Hashimoto Thyroiditis, Type 2 Diabetes (T2D), and Polycystic Ovary Syndrome.
Summary: The objective of this study is to evaluate the efficacy of using a reduced-intensity condition (RIC) regimen with umbilical cord blood transplant (UCBT), double cord UCBT, matched unrelated donor (MUD) bone marrow transplant (BMT) or peripheral blood stem cell transplant (PBSCT) in patients with non-malignant disorders that are amenable to treatment with hematopoietic stem cell transplant (HSCT). ...
Summary: This is a data collection study that will examine the general diagnostic and treatment data associated with the reduced-intensity chemotherapy-based regimen paired with simple alemtuzumab dosing strata designed to prevented graft failure and to aid in immune reconstitution following hematopoietic stem cell transplantation.
Published Date: May 01, 2017
Published By: National Institutes of Health