Omenn syndrome

OMIM:603554
Mode of inheritance:Autosomal recessive
Disease classification:Disorders involving the immune mechanism

Mutations

Gene Symbol	RAG1
Reference transcript	NM_000448.2
DNA Change	c.631delT
A.A. Change	p.Cys211ValfsX53
Exon/Intron	exon 2
Mutation Type	deletion
Reference	Jaouad IC, Ouldim K, Ali Ou Alla S, Kriouile Y, Villa A, Sefiani A.Omenn syndrome with mutation in RAG1 gene. Indian J Pediatr. 2008 Sep;75(9):944-6.

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