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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Omenn syndrome


Other Names for this Disease

  • Reticuloendotheliosis familial with eosinophilia
  • Severe combined immunodeficiency with hypereosinophilia
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Cause

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What causes Omenn syndrome?

Omenn syndrome is a genetically heterogeneous condition (meaning that it may be caused by a number of different genes). While most cases are attributed to mutations in the RAG genes (RAG-1 and RAG2 genes have been mapped to chromosome band 11p13), recent reports describe Omenn syndrome in the absence of RAG mutations.[1][2] Omenn syndrome caused by mutations in ARTEMIS, ADA, ILRA2, ILRA7, CHD7, and DNA ligase 4 have been described in the medical literature. Some cases of Omenn syndrome have also been found in association with 22q11 microdeletion syndrome.[1]
Last updated: 3/21/2012

References
  1. Schwartz RA, Lin RY. Omenn Syndrome. eMedicine. May 9, 2011; http://emedicine.medscape.com/article/887687-overview. Accessed 3/21/2012.
  2. Zhang ZY, Ahao XD, Jiang LP, Liu EM, Cui YX, Wang M, Wei H, Yu J, An YF, Yang XQ. Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome. Pediatr Allergy Immunol. 2011; http://www.ncbi.nlm.nih.gov/pubmed/21771083. Accessed 3/21/2012.


Other Names for this Disease
  • Reticuloendotheliosis familial with eosinophilia
  • Severe combined immunodeficiency with hypereosinophilia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.