Kawasaki disease (KD) is a childhood vasculitis and the most frequent cause of paediatric acquired heart disease in North America, Europe and Japan. It is increasingly recognised in rapidly ...industrialising countries such as China and India where it may replace rheumatic heart disease as the most common cause of acquired heart disease in children. We review the current global epidemiology of KD and discuss some public health implications.
Immunogenetics of Kawasaki disease Kumrah, Rajni; Vignesh, Pandiarajan; Rawat, Amit ...
Clinical reviews in allergy & immunology,
08/2020, Volume:
59, Issue:
1
Journal Article
Peer reviewed
Kawasaki disease (KD) is a medium vessel vasculitis that affects young children. Despite extensive research over the last 50 years, the etiology of KD remains an enigma. Seasonal change in wind ...patterns was shown to have correlation with the epidemics of KD in Japan. Occurrence of disease in epidemiological clusters, seasonal variation, and a very low risk of recurrence suggest that KD is triggered by an infectious agent. The identification of oligoclonal IgA response in the affected tissues suggests an antigen-driven inflammation. The recent identification of a viral antigen in the cytoplasm of bronchial ciliated epithelium also favors infection as the main trigger for KD. Pointers that suggest a genetic basis of KD include a high disease prevalence in North-East Asian populations, a high risk among siblings, and familial occurrence of cases. Dysregulated innate and adaptive immune responses are evident in the acute stages of KD. In addition to the coronary wall inflammation, endothelial dysfunction and impaired vascular remodeling contribute to the development of coronary artery abnormalities (CAAs) and thrombosis. Genetic aberrations in certain intracellular signaling pathways involving immune effector functions are found to be associated with increased susceptibility to KD and development of coronary artery abnormalities (CAAs). Several susceptible genes have been identified through genome-wide association studies (GWAS) and linkage studies (GWLS). The genes that are studied in KD can be classified under 4 major groups—enhanced T cell activation (
ITPKC
,
ORAI1
,
STIM1
), dysregulated B cell signaling (
CD40
,
BLK
,
FCGR2A
), decreased apoptosis (
CASP3
), and altered transforming growth factor beta signaling (
TGFB2
,
TGFBR2
,
MMP
,
SMAD
). The review aims to highlight the role of several genetic risk factors that are linked with the increased susceptibility to KD.
Kawasaki disease (KD) is the commonest medium vessel vasculitis in children. The etiology of KD remains an enigma despite extensive research. Infections are considered to be one of the triggers for ...KD, especially in genetically susceptible hosts. KD occurring within a short time interval among siblings is an important clinical observation supporting this hypothesis. In addition, siblings of children with KD are at a higher risk of developing the disease as compared with other children. Screening for KD in febrile siblings, therefore, seems prudent. This would help initiate timely therapy and prevent complications. We briefly review 16 English language reports of KD in siblings diagnosed within 1 month of each other to highlight its etiological and therapeutic implications.
Key Points
• KD should be suspected in febrile children who have a sibling recently diagnosed with KD.
• Etiological studies should also focus on siblings who develop KD in close temporal proximity.
Prolidase deficiency (PD) is a rare autosomal recessive disorder associated with recurrent infections, immune dysregulation, and autoimmunity. PD is characterized by persistent dermatitis, skin ...fragility, and non‐healing ulcerations on the lower limbs as its main dermatologic characteristics. Herein, we report a boy with PD due to a novel variant in PEPD who had abnormal facies, cognitive impairment, corneal opacity, recurrent infections, and persistent non‐healing leg ulcers. Th17 lymphocyte counts and phosphorylated‐STAT5 expression following IL‐2 stimulation were reduced in our patient as compared to healthy control.
Kimura's disease (KD) is a chronic inflammatory disorder characterized by nontender lymphadenopathy involving the head and neck region. Renal involvement in KD is rare, especially in children. We ...report a 12‐year‐old boy who had been previously treated for classical KD and had presented with anasarca and oliguria after 4 years. There were no swellings or lymphadenopathy. The kidney biopsy revealed membranous nephropathy. Remission was achieved with oral prednisolone and tacrolimus therapy. This patient highlights the need to regularly monitor patients with KD for the evolution of renal diseases, even if lymphadenopathy regresses. Serial monitoring for eosinophilia, inflammatory markers, and urine examination is needed to help identify subclinical disease early and prompt initiation of specific therapy.
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