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disease > genetic disease > hereditary disease > Omenn syndrome
disease > immunopathology > immune deficiency > Omenn syndrome

Preferred term

Omenn syndrome  

Definition(s)

  • Omenn syndrome is an autosomal recessive severe combined immunodeficiency. It is associated with hypomorphic missense mutations in immunologically relevant genes of T-cells (and B-cells) such as recombination activating genes (RAG1 and RAG2), Interleukin-7 receptor-α (IL7Rα), DCLRE1C-Artemis, RMRP-CHH, DNA-Ligase IV, common gamma chain, WHN-FOXN1, ZAP-70 and complete DiGeorge syndrome. (Wikipedia)

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URI

http://data.loterre.fr/ark:/67375/VH8-N5WN3GNF-S

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