Document Detail


Omenn syndrome.
MedLine Citation:
PMID:  18568303     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
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.
Authors:
Imane Cherkaoui Jaouad; K Ouldim; S Ali Ou Alla; Y Kriouile; A Villa; A Sefiani
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2008-6-21
Journal Detail:
Title:  Indian journal of pediatrics     Volume:  -     ISSN:  0973-7693     ISO Abbreviation:  Indian J Pediatr     Publication Date:  2008 Jun 
Date Detail:
Created Date:  2008-6-23     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0417442     Medline TA:  Indian J Pediatr     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
Department of Medical Genetics, National Institute of Health, 27, Avenue Ibn Battouta, B.P. 769, Rabat, Morocco, imane_cj@yahoo.fr.
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