Omenn Syndrome

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Xu, R. Omenn Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4759 (accessed on 21 September 2026).

Xu R. Omenn Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4759. Accessed September 21, 2026.

Xu, Rita. "Omenn Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4759 (accessed September 21, 2026).

Xu, R. (2020, December 24). Omenn Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4759

Xu, Rita. "Omenn Syndrome." Encyclopedia. Web. 24 December, 2020.

Omenn Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/omenn-syndrome

Omenn syndrome is an inherited disorder of the immune system (immunodeficiency).

genetic conditions

References

Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, Cunningham-RundlesC, 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 ofimmunological societies expert committee for primary immunodeficiency. FrontImmunol. 2014 Apr 22;5:162. doi: 10.3389/fimmu.2014.00162.Erratum in: Front Immunol. 2014;5:460.
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. 2009Nov 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 ofRAG 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, VillaA, Badolato R. Defect of regulatory T cells in patients with Omenn syndrome. JAllergy 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.
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 andImmunologic 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.
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 toimmature self-reactive oligoclonal T cells. J Allergy Clin Immunol. 2009Oct;124(4):793-800. doi: 10.1016/j.jaci.2009.06.048.
Villa A, Notarangelo LD, Roifman CM. Omenn syndrome: inflammation in leakysevere combined immunodeficiency. J Allergy Clin Immunol. 2008 Dec;122(6):1082-6.doi: 10.1016/j.jaci.2008.09.037.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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