Omenn syndrome with mutation in RAG1 gene.
Indian J Pediatr
;
2008 Sep; 75(9): 944-6
Article
in English
| IMSEAR
| ID: sea-82729
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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Splenomegaly
/
Syndrome
/
Female
/
Humans
/
Nuclear Proteins
/
Gene Rearrangement, T-Lymphocyte
/
Severe Combined Immunodeficiency
/
Dermatitis, Exfoliative
/
Homeodomain Proteins
/
DNA-Binding Proteins
Country/Region as subject:
Africa
Language:
English
Journal:
Indian J Pediatr
Year:
2008
Type:
Article
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