Kawasaki disease: novel insights into etiology and genetic susceptibility

• Published in: Annual review of medicine 2011-01, Vol.62 (1), p.69-77
• Main Author: Rowley, Anne H
• Format: Article
• Language: English
• Subjects: Antibodies - immunology; Autoimmune diseases; Autoimmune Diseases - epidemiology; Autoimmune Diseases - genetics; Autoimmune Diseases - immunology; Childrens health; Communicable Diseases - epidemiology; Communicable Diseases - genetics; Communicable Diseases - immunology; Coronary Artery Disease - genetics; Coronary Artery Disease - immunology; Disease prevention; Genetic disorders; Genetic Predisposition to Disease - genetics; Genome-Wide Association Study; Hazardous Substances - adverse effects; Humans; Immunoglobulin A - immunology; Inclusion Bodies - genetics; Inclusion Bodies - immunology; Inclusion Bodies - pathology; Japan - epidemiology; Lymphatic system; Male; Mucocutaneous Lymph Node Syndrome - epidemiology; Mucocutaneous Lymph Node Syndrome - genetics; Mucocutaneous Lymph Node Syndrome - immunology; Pediatrics; Phosphotransferases (Alcohol Group Acceptor) - genetics; Phosphotransferases (Alcohol Group Acceptor) - immunology; Polymorphism; Polymorphism, Genetic; Prevalence; T cell receptors; United States - epidemiology
• ISSN: 0066-4219; 1545-326X
• DOI: 10.1146/annurev-med-042409-151944

Kawasaki disease (KD) is a vasculitis of young childhood that particularly affects the coronary arteries. Molecular analysis of the oligoclonal IgA response in acute KD led to production of synthetic KD antibodies. These antibodies identify intracytoplasmic inclusion bodies in acute KD tissues. Light and electron microscopic studies indicate that the inclusion bodies are consistent with aggregates of viral proteins and RNA. Advances in molecular genetic analysis and completion of the Human Genome Project have sparked a worldwide effort to identify genes associated with KD. A polymorphism of one such gene, ITPKC, a negative regulator of T cell activation, confers susceptibility to KD in Japanese populations and increases the risk of developing coronary artery abnormalities in both Japanese and U.S. children. Identification of the etiologic agent and of genes conferring KD susceptibility are the best means of improving diagnosis and therapy and enabling prevention of this important disorder of childhood.