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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Association of killer cell immunoglobulin-like receptors with scleroderma.

OBJECTIVE: Scleroderma is an autoimmune disorder of unknown etiology. A genetic contribution has been demonstrated, and genes influencing activation of the immune system have been potentially identified as candidate genes in this process. The repertoire of killer cell immunoglobulin-like receptors (KIRs) that are involved in the activation of T cells and natural killer cells is highly variable. Recently, an association of KIR2DS2 with vasculitis in patients with rheumatoid arthritis has been reported. Because scleroderma is characterized by an involvement of the vascular system, we sought to determine whether KIR2DS2 is associated with scleroderma. METHODS: We typed 9 KIR genes in 102 patients with scleroderma and in 100 blood donors, using polymerase chain reaction on genomic DNA. RESULTS: Twelve patients with scleroderma, compared with only 2 blood donors, had KIR phenotypes characterized by the presence of the activating KIR2DS2 and the absence of the corresponding inactivating KIR2DL2 (P = 0.005). CONCLUSION: The genetic combination of KIR2DS2+ and KIR2DL2- is associated with scleroderma.[1]


  1. Association of killer cell immunoglobulin-like receptors with scleroderma. Momot, T., Koch, S., Hunzelmann, N., Krieg, T., Ulbricht, K., Schmidt, R.E., Witte, T. Arthritis Rheum. (2004) [Pubmed]
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