Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked (IPEX)

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Disease Ontology 12 DOID:0090110 OMIM® 57 304790 KEGG 36 H01971 ICD10 32 E31.0 ICD10 via Orphanet 33 E31.0

UMLS via Orphanet 72 C0342288 Orphanet 58 ORPHA37042 MedGen 41 C0342288 C1844663 SNOMED-CT via HPO 68 111253001 119247004 126485001 128091003 128241005 128496001 128613002 13172003 15699003 16294009 165517008 166603001 166643006 190855004 200948000 224958001 230145002 233604007 234425008 234490009 236071009 238108007 246545002 247472004 249497008 267036007 26889001 271825005 275403002 278040002 281104002 285384003 28689008 300359004 30746006 313307000 32273002 34486009 36171008 36440009 3723001 396349005 396350005 399992009 400005007 40930008 413603009 419076005 422400008 428255004 43116000 432788009 4556007 46635009 52254009 5291005 56317004 60168000 64226004 64305001 64667001 7180009 74789008 75183008 75581001 77182004 82119001 84757009 87065009 87522002 9014002 91175000 more UMLS 71 C0342288

MedlinePlus Genetics : ⁴³ 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.Almost all individuals with IPEX syndrome develop a disorder of the intestines called autoimmune enteropathy. Autoimmune enteropathy occurs when certain cells in the intestines are destroyed by a person's immune system. It causes severe diarrhea, which is usually the first symptom of IPEX syndrome. Autoimmune enteropathy typically begins in the first few months of life. It can cause failure to gain weight and grow at the expected rate (failure to thrive) and general wasting and weight loss (cachexia).People with IPEX syndrome frequently develop inflammation of the skin, called dermatitis. Eczema is the most common type of dermatitis that occurs in this syndrome, and it causes abnormal patches of red, irritated skin. Other skin disorders that cause similar symptoms are sometimes present in IPEX syndrome.The term polyendocrinopathy is used in IPEX syndrome because individuals can develop multiple disorders of the endocrine glands. Type 1 diabetes mellitus is an autoimmune condition involving the pancreas and is the most common endocrine disorder present in people with IPEX syndrome. It usually develops within the first few months of life and prevents the body from properly controlling the amount of sugar in the blood. Autoimmune thyroid disease may also develop in people with IPEX syndrome. The thyroid gland is a butterfly-shaped organ in the lower neck that produces hormones. This gland is commonly underactive (hypothyroidism) in individuals with this disorder, but may become overactive (hyperthyroidism).Individuals with IPEX syndrome typically develop other types of autoimmune disorders in addition to those that involve the intestines, skin, and endocrine glands. Autoimmune blood disorders are common; about half of affected individuals have low levels of red blood cells (anemia), platelets (thrombocytopenia), or certain white blood cells (neutropenia) because these cells are attacked by the immune system. In some individuals, IPEX syndrome involves the liver and kidneys.

MalaCards based summary : Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked, also known as diarrhea, polyendocrinopathy, fatal infection syndrome, x-linked, is related to autoimmune enteropathy and polyendocrinopathy, and has symptoms including diarrhea An important gene associated with Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked is FOXP3 (Forkhead Box P3), and among its related pathways/superpathways are Th17 cell differentiation and Inflammatory bowel disease. The drugs Cisplatin and Docetaxel have been mentioned in the context of this disorder. Affiliated tissues include skin, t cells and thyroid, and related phenotypes are type i diabetes mellitus and failure to thrive in infancy

Disease Ontology : ¹² An autoimmune disease that is characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has material basis in X-linked recessive mutation in the forkhead box P3 (FOXP3) gene on chromosome Xp11.

GARD : ²⁰ Immunodysregulation polyendocrinopathy enteropathy x-linked (IPEX) syndrome is a rare autoimmune disease. it affects only males and starts in the first six months of life. The symptoms of IPEX syndrome include severe diarrhea, diabetes, skin conditions (such as eczema, erythroderma, or psoriasis), and thyroid disease (thyroiditis). IPEX syndrome is caused by changes (mutations) of the FOXP3 gene, which is located on the X chromosome. There are several other diseases that are very similar to the IPEX syndrome, caused by mutations in other genes and that affect both males and females. Treatment of IPEX syndrome consists of medications that limit immune system function; a bone marrow transplantation is the only treatment that can cure the disease, but it may have several complications. Research is ongoing for new and safer treatments.

OMIM® : ⁵⁷ IPEX is an X-linked recessive immunologic disorder characterized by onset in infancy of severe diarrhea due to enteropathy, type 1 diabetes mellitus, and dermatitis. Other features may include hypothyroidism, autoimmune hemolytic anemia, thrombocytopenia, lymphadenopathy, hepatitis, and nephritis. The disorder may be fatal before age 2 years if not aggressively treated. Long-term therapeutic options include immunosuppression and hematopoietic stem cell transplantation (review by d'Hennezel et al., 2012). (304790) (Updated 05-Mar-2021)

KEGG : ³⁶ IPEX syndrome is a fatal disorder characterized by immune dysregulation, polyendocrinopathy, enteropathy and X-linked inheritance. This disease is caused by mutations in FOXP3, a critical regulator of T-cell homeostasis. Clinically, IPEX manifests most commonly with diarrhea, insulin-dependent diabetes mellitus, thyroid disorders, and eczema.

UniProtKB/Swiss-Prot : ⁷³ Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome: Characterized by neonatal onset insulin-dependent diabetes mellitus, infections, secretory diarrhea, thrombocytopenia, anemia and eczema. It is usually lethal in infancy.

Wikipedia : ⁷⁴ Immunodysregulation polyendocrinopathy enteropathy X-linked (or IPEX) syndrome is a rare disease linked... more...

GeneReviews: NBK1118

Clinical features from OMIM®:

304790 (Updated 05-Mar-2021)

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