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Title: Omenn syndrome with mutation in RAG1 gene.
Authors: Jaouad, I Cherkaoui
Ouldim, K
Ali Ou Alla, S
Kriouile, Y
Villa, A
Sefiani, A
Issue Date: 28-Sep-2008
Citation: Jaouad IC, Ouldim K, Ali Ou Alla S, Kriouile Y, Villa A, Sefiani A. Omenn syndrome with mutation in RAG1 gene. Indian Journal of Pediatrics. 2008 Sep; 75(9): 944-6
Abstract: Omenn syndrome is a form of severe combined immunodeficiency associated with erythrodermia, hepatosplenomegaly, lymphadenopathy, and alopecia. Inherited hypomorphic mutations in the recombination activating genes 1 and 2 (RAG1 and RAG2) and in ARTEMIS genes and more recently defects in IL7RA, and RMRP genes have been described to be responsible of this peculiar immunodeficiency. The authors report here a Moroccan patient of four-months-old with classical features of Omenn syndrome, carrying a deletion at the N terminal part of RAG1. Early recognition of this condition is important for genetic counseling and early treatment.
Appears in Collections:Indian Journal of Pediatrics

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