Omenn syndrome

Definition:

Omenn syndrome is a rare autosomal recessive disease that is characterized by severe combined immunodeficiency (SCID) associated with erythrodermia, hepatosplenomegaly, lymphadenopathy, and alopecia. Mutations in the recombination activating genes 1 and 2 (RAG1/2) have been described in the majority of patients with this disease. Omenn syndrome caused by ARTEMIS (DCLRE1C) mutations has also been reported.

References:

[1]. A Villa, et al. Omenn syndrome: a disorder of Rag1 and Rag2 genes. J Clin Immunol. 1999 Mar;19(2):87-97. [Content Brief]

[2]. Luigi D Notarangelo, et al. Human RAG mutations: biochemistry and clinical implications. Nat Rev Immunol. 2016 Apr;16(4):234-46. [Content Brief]

[3]. Markus Ege, et al. Omenn syndrome due to ARTEMIS mutations. Blood. 2005 Jun 1;105(11):4179-86. [Content Brief]

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