Omenn syndrome in an infant with IL7RA gene mutation.
case_report · Level V
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- Record sourced from PubMed, PMID 16492442.
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Abstract
Omenn syndrome (OS) is a rare combined immunodeficiency characterized by erythroderma, lymphadenopathy, and autoimmune manifestations. Most cases are due to mutations in the RAG genes. We report a case of OS due to mutations of IL7RA, thus defining Omenn syndrome as a genetically heterogeneous condition.
Medical subject headings
- Mutation
- Receptors, Interleukin-7
- Severe Combined Immunodeficiency