T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
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.
MONDO:0021147
disorder of development or morphogenesis
is_a
MONDO:0044200
T-B+ severe combined immunodeficiency
is_a
IL-7R
exact
IL-7Ralpha deficiency
exact
T-B+ SCID due to IL-7Ralpha deficiency
exact