Omenn syndrome
Última actualización 18 Aug 2020
Cumple con las directrices editoriales
- DescargarDescargar
- Compartir
- Language
- Discusión
- Versión en audio
- Agregar a fuentes preferidas en Google
Omenn syndrome is an inherited disorder of the immune system (immunodeficiency). Omenn syndrome is one of several forms of severe combined immunodeficiency (SCID), a group of disorders that cause individuals to have virtually no immune protection from bacteria, viruses, and fungi. Individuals with SCID are prone to repeated and persistent infections that can be very serious or life-threatening. Infants with Omenn syndrome typically experience pneumonia and chronic diarrhea. Often the organisms that cause infection in people with this disorder are described as opportunistic because they ordinarily do not cause illness in healthy people.
Descripción
Omenn syndrome is an inherited disorder of the immune system (immunodeficiency). Omenn syndrome is one of several forms of severe combined immunodeficiency (SCID), a group of disorders that cause individuals to have virtually no immune protection from bacteria, viruses, and fungi. Individuals with SCID are prone to repeated and persistent infections that can be very serious or life-threatening. Infants with Omenn syndrome typically experience pneumonia and chronic diarrhea. Often the organisms that cause infection in people with this disorder are described as opportunistic because they ordinarily do not cause illness in healthy people.
In addition to immunodeficiency, children with Omenn syndrome develop autoimmunity, in which the immune system attacks the body's own tissues and organs. This abnormal immune reaction can cause very red skin (erythroderma), hair loss (alopecia), and an enlarged liver and spleen (hepatosplenomegaly). In addition, affected individuals have enlargement of tissues that produce infection-fighting white blood cells called lymphocytes. These include the thymus, which is a gland located behind the breastbone, and lymph nodes, which are found throughout the body.
If not treated in a way that restores immune function, children with Omenn syndrome usually survive only until age 1 or 2.
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Otros nombres
Familial reticuloendotheliosis
Histiocytic medullary reticulosis
Omenn's syndrome
Related patient information and medicines
Patient information leaflet
Síndrome de Sjögren
Sjögren's syndrome is an autoimmune disease that causes the glands that produce tears and saliva to stop working. It is a life-long condition but treatments can help control symptoms such as dry eyes and dry mouth. What is Sjögren's syndrome. Sjögren's syndrome is a condition that causes the tear and saliva glands to stop working. It causes dry.
Patient information leaflet
Síndrome antifosfolípido
Síndrome antifosfolípido is sometimes called Hughes' syndrome. It is a disease that affects the blood and makes it more likely to clot than normal - a thrombophilia. What is antiphospholipid syndrome. Antiphospholipid syndrome (APS) - also called Hughes' syndrome - makes blood more likely than normal to clot (a thrombophilia ). This increases the.
Patient information leaflet
Síndrome nefrótico
Nephrotic syndrome is a condition dónde the 'filters' in the kidney become 'leaky' and large amounts of protein leak from the blood into the urine. The main symptom is fluid retention (oedema) which is mainly due to the low protein level in the blood. Various diseases can cause nephro... What is nephrotic syndrome. Nephrotic syndrome is not a.
Patient information leaflet
Síndrome premenstrual
Premenstrual syndrome (PMS) can cause various symptoms before periods. Premenstrual syndrome (PMS) is the name given for various symptoms you may experience in the weeks before your period. 'Physiological premenstrual symptoms' refers to premenstrual symptoms (eg, abdominal bloating, breast tenderness, headache, acne , constipation , or mood.
Patient information leaflet
Síndrome de alergia oral
Oral allergy syndrome causes symptoms around the mouth that son triggered by certain foods. It is associated with other conditions caused by plant allergies, such as hay fever and allergy to birch pollen. It's also called pollen-food syndrom... What is oral allergy syndrome. Oral allergy syndrome (OAS) is an allergic condition which causes itching.
Patient information leaflet
Síndrome de ovario poliquístico
Polycystic ovary syndrome (PCOS) is a metabolic condition that affects how the ovaries work. It can cause symptoms such as weight gain, excess hair growth, period problems, and can impact fertility. What is polycystic ovary syndrome (PCOS). Polycystic ovary syndrome (PCOS) is a medical condition that affects how the body regulates hormones. It can.
Lecturas adicionales y referencias
- Omenn syndrome; MedlinePlus, National Library of Medicine.
- Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, Etzioni A, Franco JL, Gaspar HB, Holland SM, Klein C, Nonoyama S, Ochs HD, Oksenhendler E, Picard C, Puck JM, Sullivan K, Tang ML. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol. 2014 Apr 22;5:162. doi: 10.3389/fimmu.2014.00162. eCollection 2014.
- Alsmadi O, Al-Ghonaium A, Al-Muhsen S, Arnaout R, Al-Dhekri H, Al-Saud B, Al-Kayal F, Al-Saud H, Al-Mousa H. Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia. BMC Med Genet. 2009 Nov 13;10:116. doi: 10.1186/1471-2350-10-116.
- Bai X, Liu J, Zhang Z, Liu C, Zhang Y, Tang W, Dai R, Wu J, Tang X, Zhang Y, Ding Y, Jiang L, Zhao X. Clinical, immunologic, and genetic characteristics of RAG mutations in 15 Chinese patients with SCID and Omenn syndrome. Immunol Res. 2016 Apr;64(2):497-507. doi: 10.1007/s12026-015-8723-4.
- Cassani B, Poliani PL, Moratto D, Sobacchi C, Marrella V, Imperatori L, Vairo D, Plebani A, Giliani S, Vezzoni P, Facchetti F, Porta F, Notarangelo LD, Villa A, Badolato R. Defect of regulatory T cells in patients with Omenn syndrome. J Allergy Clin Immunol. 2010 Jan;125(1):209-16. doi: 10.1016/j.jaci.2009.10.023.
- Ege M, Ma Y, Manfras B, Kalwak K, Lu H, Lieber MR, Schwarz K, Pannicke U. Omenn syndrome due to ARTEMIS mutations. Blood. 2005 Jun 1;105(11):4179-86. doi: 10.1182/blood-2004-12-4861. Epub 2005 Feb 24.
- Sharapova SO, Guryanova IE, Pashchenko OE, Kondratenko IV, Kostyuchenko LV, Rodina YA, Varlamova TV, Bondarenko AV, Chernyshova LI, Gyseva MN, Belevtsev MV, Minakovskaya NV, Aleinikova OV. Molecular Characteristics, Clinical and Immunologic Manifestations of 11 Children with Omenn Syndrome in East Slavs (Russia, Belarus, Ukraine). J Clin Immunol. 2016 Jan;36(1):46-55. doi: 10.1007/s10875-015-0216-7. Epub 2015 Nov 23.
- Somech R, Simon AJ, Lev A, Dalal I, Spirer Z, Goldstein I, Nagar M, Amariglio N, Rechavi G, Roifman CM. Reduced central tolerance in Omenn syndrome leads to immature self-reactive oligoclonal T cells. J Allergy Clin Immunol. 2009 Oct;124(4):793-800. doi: 10.1016/j.jaci.2009.06.048. Epub 2009 Sep 19.
- Villa A, Notarangelo LD, Roifman CM. Omenn syndrome: inflammation in leaky severe combined immunodeficiency. J Allergy Clin Immunol. 2008 Dec;122(6):1082-6. doi: 10.1016/j.jaci.2008.09.037. Epub 2008 Nov 6.
Únete a la conversación
Comparte tus pensamientos o experiencias con otros en nuestro comunidades de pacientes.
Pregunta, comparte, conecta.
Navega por discusiones, haz preguntas y comparte experiencias en cientos de temas de salud.
Suscríbete al boletín de Patient
Tu dosis semanal de consejos de salud claros y confiables, escritos para ayudarte a sentirte informado, seguro y en control.
Al suscribirte aceptas nuestros Política de Privacidad. Puedes darte de baja en cualquier momento. Nunca vendemos tus datos.