Gene/Protein
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Enzyme
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Pivot Concepts:
Gene/Protein
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Target Concepts:
Gene/Protein
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Query: UMLS:C0019214 (
hepatosplenomegaly
)
4,408
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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.
...
PMID:Omenn syndrome with mutation in RAG1 gene. 1901 8
