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GENE - TERM ANNOTATION REPORT

RGD ID: 735948
Species: Mus musculus
RGD Object: Gene
Symbol: Il2ra
Name: interleukin 2 receptor, alpha chain
Acc ID: DOID:0111968
Term: immunodeficiency 41
Definition: A combined immunodeficiency characterized by a defect in T cell regulation with proliferation of CD8+ T cells, impaired antibody specific responses, and elevated cytokines resulting in recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features that has_material_basis_in homozygous or compound heterozygous mutation in the IL2RA gene on chromosome 10p15.1. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/23416241/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/9096364/ "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Il2rasusceptibilityISOIL2RA (Homo sapiens)7240710OMIM  
Il2ra ISOIL2RA (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Il2ra ISOIL2RA (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Immunodeficiency due to CD25 deficiencyPMID:16199547 PMID:17196245 PMID:17576681 PMID:23261300 PMID:23416241 PMID:24033266 PMID:24116927 PMID:25741868 PMID:28492532 PMID:9096364 PMID:9536098
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