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

Ontology

Human Disease   ( DOID:0060015 )