Search Ontology:
Human Disease
interleukin-7 receptor alpha deficiency
- Term ID
- DOID:0060015
- Synonyms
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- 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 )
- is a type of
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