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Case Reports
. 2006 Feb;148(2):272-4.
doi: 10.1016/j.jpeds.2005.10.004.

Omenn syndrome in an infant with IL7RA gene mutation

Silvia Giliani  1 , Carmen Bonfim, Genevieve de Saint Basile, Gaetana Lanzi, Nicole Brousse, Adriana Koliski, Mariester Malvezzi, Alain Fischer, Luigi D Notarangelo, Francoise Le Deist
Affiliations
Case Reports

Omenn syndrome in an infant with IL7RA gene mutation

Silvia Giliani et al. J Pediatr. 2006 Feb.

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.

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