The genetics of Kawasaki disease

  title={The genetics of Kawasaki disease},
  author={Yoshihiro Onouchi},
  journal={International Journal of Rheumatic Diseases},
  • Y. Onouchi
  • Published 19 November 2017
  • Biology, Medicine
  • International Journal of Rheumatic Diseases
Kawasaki disease (KD) is a complex disorder which affects genetically susceptible infants and children. Several susceptibility genes (e.g., ITPKC, CASP3, CD40 and ORAI) and chromosomal regions have been identified through genome‐wide association and genome‐wide linkage studies to have association with KD. Knowledge of susceptibility genes involved in the pathogenesis of KD may provide new insights into diagnosis and treatment of this condition. However, there is much that we still do not know… 

A framework for understanding Kawasaki disease pathogenesis.

  • Mindy S Lo
  • Medicine, Biology
    Clinical immunology
  • 2020

[Research advances in the pathogenesis of familial Kawasaki disease].

  • Ke CaiFeng WangY. Gui
  • Medicine
    Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
  • 2018
The onset of familial Kawasaki disease and possible pathogenesis is reviewed, with a focus on the first-degree relatives of patients with Kawasaki Disease.

A Case Report on Kawasaki Disease

A 7 year old male patient was brought to emergency department with Scarlett fever, dry lips, Thickening of palmar skin, Itching, patient was shifted to pediatrics department and was provided with adequate treatment.

How Should We Classify Kawasaki Disease?

A review of the evidences available up to now regarding an autoreactive hypothesis that Kawasaki disease is triggered by an antigen that shares homology with structures in the vascular wall, and molecular mimicry resulting in an immune response directed to that tissue.

Novel coronavirus infection and Kawasaki disease

  • V. BitsadzeK. Grigoreva A. Makatsariya
  • Medicine
    The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
  • 2020
Abstract There is a global problem of increment of the number of children with clinical features that mimic Kawasaki Disease (KD) during the ongoing Coronavirus Disease 2019 (COVID-19) pandemic. The

Clinical Manifestations and Laboratory Findings of Kawasaki Disease: Beyond the Classic Diagnostic Features

The various clinical manifestations and laboratory characteristics of Kawasaki disease are revisited and reviewed in order to guide the diagnosis of KD.

Antibodies and Immunity During Kawasaki Disease

  • M. Hicar
  • Medicine, Biology
    Frontiers in Cardiovascular Medicine
  • 2020
The role of humoral immunity in KD pathogenesis, treatment, and recovery is reviewed and it is shown that children with KD have similar plasmablast responses as other children with infectious diseases, further supporting an infectious starting point.

Anti-inflammatory Treatment of Kawasaki Disease: Comparison of Current Guidelines and Perspectives

This review discusses the treatment of complications of KD and Kawasaki-like phenotypes, presents an anti-inflammatory treatment in the light of new scientific data, and presents novel potential therapeutic targets for KD.

Increased Risk of Kawasaki Disease in Infants Born of Mothers With Immune Disorders

Maternal numbers of autoimmune disorders showed a dose-dependent relationship with KD incidence and children born from mothers with asthma and allergic rhinitis had a higher risk of developing KD.

Identification of rare coding variants associated with Kawasaki disease by whole exome sequencing

Analysis of whole exome sequencing results provides insights into new candidate genes and genetic variants potentially involved in the development of KD and CAA.



Molecular Genetics of Kawasaki Disease

The candidate gene association studies to date of Kawasaki disease are reviewed and the recent findings in genome-wide approach are introduced, which revealed the importance of Ca2+/nuclear factor of activated T-cells pathway in the pathogenesis of KD.

Common variants in CASP3 confer susceptibility to Kawasaki disease.

It is reported that multiple variants in the caspase-3 gene (CASP3) that are in linkage disequilibrium confer susceptibility to KD in both Japanese and US subjects of European ancestry.

Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis

Two new loci are reported, one at BLK (encoding B-lymphoid tyrosine kinase) and one at CD40, that are associated with Kawasaki disease at genome-wide significance (P < 5 × 10−8) and may lead to a better understanding of the role of immune activation and inflammation in Kawasaki Disease pathogenesis.

CD40 ligand gene and Kawasaki disease

A role of CD40L in the pathogenesis of CAL is suggested and might explain the excess of males affected with KD and a newly identified SNP in intron 4 is marginally over-represented in KD patients as compared to controls.

Genetic Polymorphisms in the CD40 Ligand Gene and Kawasaki Disease

These results provide little support for specific CD40L SNPs in the susceptibility or CAL development of KD in Taiwanese children, and it will be necessary to validate or replicate this association in other independent large-size ethnic groups.

A genomewide linkage analysis of Kawasaki disease: evidence for linkage to chromosome 12

This is the first large-scale study of the genetic susceptibility to Kawasaki disease, and the results could greatly promote research on identification of the molecular pathogenesis of KD.

ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms

A functional SNP (itpkc_3) in the inositol 1,4,5-trisphosphate 3-kinase C (ITPKC) gene on chromosome 19q13.2 that is significantly associated with Kawasaki disease susceptibility and also with an increased risk of coronary artery lesions is identified.

Variations in ORAI1 Gene Associated with Kawasaki Disease

Data indicate that ORAI1 gene variations are associated with KD and may suggest the potential importance of the Ca(2+)/NFAT pathway in the pathogenesis of this disorder.

A genome-wide association analysis reveals 1p31 and 2p13.3 as susceptibility loci for Kawasaki disease

Results implicate a locus in the 1p31 region and the PELI1 gene locu in the 2p13.3 region as susceptibility loci for KD and CALs, respectively.

Genome-wide linkage and association mapping identify susceptibility alleles in ABCC 4 for Kawasaki disease

Genetic data suggest that ABCC4 could play a fundamental role in KD pathogenesis with effects on immune activation and vascular response to injury, and a combined linkage and association approach is used to identify other potential KD susceptibility genes which were not identified by the GWAS.