Omenn Syndrome and Other RAG1-related Disorders (RAG1)
Omenn syndrome and other RAG1-related disorders are a group of autosomal recessive disorders caused by pathogenic variants in the gene RAG1. The symptoms for this disorder are severe, infantile-onset, and include failure to thrive, recurrent and severe infections, chronic diarrhea, a low B cell count, defective T-cells, autoimmunity causing red and peeling skin, hair loss, loss of eyebrows and eyelashes, and enlargement of the spleen, liver, thymus and lymph nodes. While the life expectancy for these disorders is currently unknown, morbidity has been reported in untreated individuals within 1-2 years of symptom onset; however, treatment may increase the chance of survival by 80% depending on the disorder.
For information about carrier frequency and residual risk, please see the residual risk table.