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Omenn syndrome in an infant with IL7RA gene mutation

2006; Elsevier BV; Volume: 148; Issue: 2 Linguagem: Inglês

10.1016/j.jpeds.2005.10.004

1097-6833

Silvia Giliani, Carmen Bonfim, Geneviève de Saint Basile, Gaetana Lanzi, Nicole Brousse, Adriana Koliski, Mariester Malvezzi, Alain Fischer, Luigi D. Notarangelo, Françoise Le Deist,

Immune Cell Function and Interaction

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.