Genetic condition awaiting consideration - Omenn Syndrome
Omenn syndrome is a recessively inherited condition. It is a form of severe combined immunodeficiency (SCID). Symptoms include a scaly dermatitis or inflammatory skin disease with skin peeling, loss of hair, chronic diarrhoea and failure to thrive, swollen lymph nodes and enlargement of the liver and spleen. Recurrent infections are caused by a reduced number of B-cells and an increased number of T-cells. Death occurs if the condition is unrecognized and untreated. Treatment is bone marrow or stem cell transplantation. The condition is caused by gene changes in the RAG 1 and 2 genes and it is inherited in an autosomal recessive manner which means that carrier parents have a 1 in 4 chance of having an affected child in each pregnancy.
Have your say on conditions awaiting consideration
If you have any feedback on the genetic conditions awaiting consideration by the HFEA, send us an email and we will discuss your comments at the next Licence Committee.
Email: pgd@hfea.gov.uk
Page last updated: 26 November 2012