Immunobiology 2021 Apr 28;226(3):152090. Epub 2021 Apr 28.
Laboratory of Genomics and Human Genetics,Institut Pasteur du Maroc, 1 Place Louis Pasteur, 20360 Casablanca, Morocco. Electronic address:
Omenn syndrome (OS) is a type of severe combined immunodeficiency (SCID) that is distinguished by, lymphadenopathy, hepatosplenomegaly, erythroderma, alopecia with normal to elevated T-cell counts, eosinophilia, and elevated serum IgE levels. Recombination activation gene (RAG) 1 or RAG2 mutations that result in partial V(D)J recombination activity are known to be the main cause of OS. Other genes (DCLRE1C, LIG4, IL7RA, common gamma chain, ADA, RMRP, and CHD7) have also been linked to OS, although with low frequency. Read More