Omenn syndrome in an infant with IL7RA gene mutation
S Giliani, C Bonfim, G de Saint Basile, G Lanzi… - The Journal of …, 2006 - Elsevier
S Giliani, C Bonfim, G de Saint Basile, G Lanzi, N Brousse, A Koliski, M Malvezzi, A Fischer…
The Journal of pediatrics, 2006•ElsevierOmenn 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.
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.
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.
Elsevier