X-linked severe combined immunodeficiency (X-SCID)

An immunodeficiency disorder that affects lymphocytes.


Due to this variant of Severe Combined Immunodeficiency disease being X-linked, it affects only males (their sole X chromosome possesses the mutation). It is a recessive trait stemming from a defective version of the gene responsible for the functionality of the Interleukin 2 receptor (IL2RG).

Lister Hill National Center for Biomedical Research. 2010. X-linked severe combined immunodeficiency. Retrieved July 21, 2010 from http://ghr.nlm.nih.gov/condition/x-linked-severe-combined-immunodeficiency.

In individuals with Severe Combined immunodeficiency, their deficient immune response results in life-threatening infections.

The IL2RG gene provides instructions for making a protein that is critical for normal immune system function. This protein is necessary for the growth and maturation of developing immune system cells called lymphocytes. Lymphocytes defend the body against potentially harmful invaders, make antibodies, and help regulate the entire immune system. Mutations in the IL2RG gene prevent these cells from developing and functioning normally. Without functional lymphocytes, the body is unable to fight off infections.


recurrent and persistent infections caused by certain bacteria, viruses, and fungi. The organisms that cause these infections are described as opportunistic because they ordinarily do not cause illness in healthy people.


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