Omenn syndrome with mutation in RAG1 gene.

[omenn syndrome]

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 (RAG 1 and RAG 2 ) and in ARTEMIS genes and more recently defects in IL 7 RA , 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 RAG 1 . Early recognition of this condition is important for genetic counseling and early treatment .

Diseases
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Diseases presenting "and rmrp genes have been described to be responsible of this peculiar immunodeficiency" symptom

omenn syndrome

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