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DOID:0060015 - interleukin-7 receptor alpha deficiency
Disease Ontology 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.
Synonyms: IL-7R,
Xenbase Genes : il7r
MONDO:0015701 - T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
severe combined immunodeficiency (is_a)