T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
Definition
A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus.
Also known as IL-7R, IL-7Ralpha deficiency, T-B+ SCID due to IL-7Ralpha deficiency — per MONDO