OBO ID: DOID:0060015
Term Name: interleukin-7 receptor alpha deficiency Search Ontology:
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. https://www.ncbi.nlm.nih.gov/pubmed/15661025
References:
Ontology: Human Disease   ( DOID:0060015 )
OTHER interleukin-7 receptor alpha deficiency PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None