A Novel Homozygous Deletion Mutation in Recombination Activating Gene 1 in Saudi Infant with atypical Omenn Syndrome

Omenn syndrome is a form of severe combined immunodeficiency associated with erythrodermia, hepatosplenomegaly, lymphadenopathy, diarrhoea, alopecia, and failure to thrive. The recombination activating enzymes RAG1 and RAG2 have a crucial role in both B and T cells development. The majority of mutations are missense mutations in recombination activating genes RAG1 and RAG2. We report a 4 months old Saudi girl with a novel homozygous deletion mutation in recombination activating gene 1.