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.