Term Name: | interleukin-7 receptor alpha deficiency |
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Synonyms: | IL-7R |
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. |
Ontology: | Human Disease [DOID:0060015] ( DOID:0060015 ) |