IL2RG
About IL2RG
IL2RG on chromosome Xq13.1 encodes the common gamma chain, a subunit shared by the receptors for several interleukins, including IL 2, IL 4, IL 7, IL 9, IL 15, and IL 21. These cytokines are essential for the development and function of T cells and natural killer cells. Loss of function variants cause X linked severe combined immunodeficiency, the most common form of SCID, in which affected boys lack T cells and NK cells and have non functional B cells, leading to severe and recurrent infections in infancy that are fatal without treatment. SCID is sometimes called bubble boy disease after David Vetter, who lived in a sterile isolator in Texas. Hematopoietic stem cell transplantation is the established treatment, and X linked SCID was one of the first diseases treated with gene therapy around 2000. Many countries now screen newborns for SCID by measuring T cell receptor excision circles.
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