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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 )
Relationships
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Genes Involved
Zebrafish Models