Other Names for this Disease
- Reticuloendotheliosis familial with eosinophilia
- Severe combined immunodeficiency with hypereosinophilia
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autosomal recessive form of severe combined immunodeficiency (SCID) characterized by erythroderma (skin redness), desquamation (peeling skin), alopecia (hair loss), chronic diarrhea, failure to thrive, lymphadenopathy (enlarged lymph nodes), eosinophilia, hepatosplenomegaly, and elevated serum IgE levels. Patients are highly susceptible to infection and develop fungal, bacterial, and viral infections typical of SCID. In this syndrome, the SCID is associated with low IgG, IgA, and IgM and the virtual absence of B cells. There is an elevated number of T cells, but their function is impaired. Omenn syndrome has been found to be caused by mutations in the RAG1 or RAG2 genes. Additional causative genes have been identified. Early recognition of this condition is important for genetic counseling and early treatment. If left untreated, Omenn syndrome is fatal. The prognosis may be improved with early diagnosis and treatment with compatible bone marrow or cord blood stem cell transplantation.Omenn syndrome is an
Last updated: 3/21/2012
- Schwartz RA, Lin RY. Omenn Syndrome. eMedicine. May 9, 2011; http://emedicine.medscape.com/article/887687-overview. Accessed 3/21/2012.
- Aleman K, Noordzij JG, de Groot R, van Dongen JJ, Hartwig NG. Reviewing Omenn syndrome. Eur J Pediatr. 2001; http://www.ncbi.nlm.nih.gov/pubmed/11795679. Accessed 3/21/2012.
- 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.
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- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Omenn syndrome. Click on the link to view a sample search on this topic.