| Omenn syndrome. | |
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MedLine Citation:
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PMID: 18568303 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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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. |
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Authors:
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Imane Cherkaoui Jaouad; K Ouldim; S Ali Ou Alla; Y Kriouile; A Villa; A Sefiani |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2008-6-21 |
Journal Detail:
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Title: Indian journal of pediatrics Volume: - ISSN: 0973-7693 ISO Abbreviation: Indian J Pediatr Publication Date: 2008 Jun |
Date Detail:
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Created Date: 2008-6-23 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0417442 Medline TA: Indian J Pediatr Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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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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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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