Omenn syndrome
Last updated 18 Aug 2020
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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.
Description
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.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
Familial reticuloendotheliosis
Histiocytic medullary reticulosis
Omenn's syndrome
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Further reading and references
- 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.
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