KIR and HLA gene combinations in Vogt-Koyanagi-Harada disease

Killer cell immunoglobulin-like receptor gene-cluster 3DS1-2DL5-2DS1-2DS5 predisposes susceptibility to Vogt–Koyanagi–Harada syndrome in Japanese individuals

“…These data clearly show that genotypes encoding a dominant KIR receptor repertoire (KIR3DS1 pos , 2DS1 pos , 2DS5 pos , 3DL1 neg ) confer increased risk for VKH disease in Japanese patients. This risk is similar to, but much stronger than, the trend for increased activation found in Mestizo patients living in Southern California [16]. Although an increase in the number of CD56 pos cells was observed in peripheral blood of VKH patients [30], direct involvement of NK cells in VKH pathogenesis is not established.…”

“…Killer cell immunoglobulin-like receptor (KIR) genes have been associated with autoimmune and infectious diseases, including uveitis [15][16][17]. A family of polymorphic KIR genes located on chromosome 19 encodes for inhibitory (3DL1-3, 2DL1-3, 2DL5) and activating (3DS1, 2DS1-5) receptors, which are expressed on natural killer (NK) cells and subsets of T cells [18 -20].…”

Killer cell immunoglobulin like receptor gene association with tuberculosis

“…Our results suggested that out of 14 activating and inhibitory KIR genes investigated, two activating genes, KIR2DS1 and KIR2DS5 seem to increase the risk of developing tuberculosis. Similar studies in Japanese cohort and Mestizo patients from southern California revealed that these two activating genes increased the risk of Vogt-Koyanagi-Harada syndrome [29,30]. KIR2DS1 can recognize Group 2 HLA-C, which consists of HLA-Cw2, -Cw4, -Cw5, -Cw6, and related alleles [31].…”

Killer Immunoglobulin-like Receptor Genes in Uveitis

“…[6][7][8][9] In addition, despite the lack of a KIR gene association with Behçet disease to date, there was an indication that KIR expression may be abnormal in patients with Behçet disease and severe uveitis. 27…”

“…There are multiple KIRs, and therefore multiple KIR genes, and the patterns of KIR genes have been shown to differ in patients compared to normal controls in human inflammatory, neoplastic, and infectious diseases, 5 including uveitis. [6][7][8][9] It is quite a challenge to interpret these studies, as KIR genes differ in organization from what most of us are used to. In this review KIR function, genetics, and gene associations with uveitis will be discussed.…”