Please use this identifier to cite or link to this item: http://imsear.hellis.org/handle/123456789/82636
Title: Omenn syndrome.
Authors: Cherkaoui Jaouad,
Ouldim,
Ali Ou Alla,
Kriouile,
Villa,
Sefiani,
Issue Date: 28-Jun-2008
Citation: Cherkaoui Jaouad I, Ouldim K, Ali Ou Alla S, Kriouile Y, Villa A, Sefiani A. Omenn syndrome. Indian Journal of Pediatrics. 2008 Jun; ()
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.
URI: http://imsear.hellis.org/handle/123456789/82636
Appears in Collections:Indian Journal of Pediatrics

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