Disease-gene associations mined from literature

Human genes for interleukin-7 receptor alpha deficiency

Interleukin-7 receptor alpha deficiency [DOID:0060015]

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.

Synonyms:  interleukin-7 receptor alpha deficiency,  DOID:0060015,  interleukin7 receptor alpha deficiency