Search Ontology:
Human Disease
obsolete interleukin-7 receptor alpha deficiency
- Term ID
- DOID:0060015
- 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
- Obsolete
- true
- Secondary ID:
- Merged into
- severe combined immunodeficiency 104
- Ontology
- ( DOID:0060015 )
Other Pages
Genes Involved
Zebrafish Models