Important chemokine system mutations strongly associated with human disease

CCR5CCR5Δ32 (loss of function)HIV/AIDSResistance to initial infection (−/−)Loss of HIV coreceptor CCR5 prevents cell entry by R5-tropic HIV-1
Delayed disease progression (+/−)
West Nile virus infectionIncreased risk of symptomatic infection (−/−)Reduced leukocyte trafficking to brain
Rheumatoid arthritisReduced risk (+/−)Reduced inflammation
Chronic renal allograft rejectionReduced risk (−/−)Reduced inflammation
CXCR4C-tail truncations (gain of function)WHIM SyndromeWartsImpaired egress of leukocytes from bone marrow
Myelokathexis (Mendelian AD)
CX3CR1CX3CR1-M280Cardiovascular diseaseReduced risk (+/−)Reduced foam cell accumulation in vessel wall
Age-related macular degenerationIncreased risk (+/−)Microglial cell accumulation in the subretinal space
ACKR1FYB(ES) (loss of function)Plasmodium vivax malariaResistance to initial infection (−/−)Promoter mutation abolishes RBC expression of ACKR1, which is required for cell entry by P. vivax
CCL26CCL26 GGEosinophilic esophagitisIncreased risk (GG)CCR3-dependent eosinophil trafficking
  • −/−, Homozygous; +/−, heterozygous; AD, autosomal dominant; GG, genotype GG; RBC, red blood cell.