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GENE - TERM ANNOTATION REPORT

RGD ID: 1307568
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Rac2
Name: Rac family small GTPase 2
Acc ID: DOID:0112064
Term: immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis
Definition: A combined immunodeficiency characterized by onset of recurrent infections in early infancy, leukocytosis, neutrophilia, decreased TCR excision circles, decreased neutrophil chemotaxis, and T-cell abnormalities that has_material_basis_in heterozygous loss of function mutation in the RAC2 gene on chromosome 22q13.1. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/21167572/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/32542921/ "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)
Rac2 ISORAC2 (Homo sapiens)7240710OMIM  
Rac2 ISORAC2 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Rac2 ISORAC2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: IMMUNODEFICIENCY 73A WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LEUKOCYTOSIS | ClinVar Annotator: match by term: Immunodeficiency 73A with defective neutrophil chemotaxis and leukocytosis | ClinVar Annotator: match by term: Neutrophil immunodeficiency syndromePMID:10758162 PMID:10961859 PMID:11278678 PMID:14676277 PMID:17576681 PMID:21167572 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30723080 PMID:33188496 PMID:9536098
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