IL7R
Description
The IL7R gene encodes the interleukin-7 receptor alpha chain (IL7RA). This protein is a crucial component of the IL-7 receptor complex, which plays a pivotal role in the development, survival, and function of T lymphocytes and natural killer (NK) cells. IL7R signaling is essential for the generation of a diverse and functional T cell repertoire, and its dysregulation can lead to various immune disorders.
Associated Diseases
- Severe Combined Immunodeficiency (SCID)
- X-linked Severe Combined Immunodeficiency (XSCID)
- Common Variable Immunodeficiency (CVID)
- Autoimmune Lymphoproliferative Syndrome (ALPS)
- Chronic Lymphocytic Leukemia (CLL)
- T-cell Acute Lymphoblastic Leukemia (T-ALL)
- Multiple Sclerosis (MS)
Did you know?
Mutations in IL7R can lead to a rare but severe immunodeficiency called X-linked Severe Combined Immunodeficiency (XSCID), characterized by a complete absence of T cells and NK cells.
