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T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency

Disease Summary
Associated Targets ()

Mondo Description 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 Term and Equivalent IDs
MONDO:0015701:  T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
Orphanet:169154: