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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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Overview


Omenn syndrome is an 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.[1][2][3] 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.[1] Omenn syndrome has been found to be caused by mutations in the RAG1 or RAG2 genes.[1][3] Additional causative genes have been identified.[1] 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.[1][2]
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. 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.
  3. 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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In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an 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.