Kawasaki disease is a systemic vasculitis of unknown etiology, with clinical observations suggesting a substantial genetic contribution to disease susceptibility. We conducted a genome-wide association study and replication analysis in 2,173 individuals with Kawasaki disease and 9,383 controls from five independent sample collections. Two loci exceeded the formal threshold for genome-wide significance. The first locus is a functional polymorphism in the IgG receptor gene FCGR2A (encoding an H131R substitution) (rs1801274; P = 7.35 × 10(-11), odds ratio (OR) = 1.32), with the A allele (coding for histadine) conferring elevated disease risk. The second locus is at 19q13, (P = 2.51 × 10(-9), OR = 1.42 for the rs2233152 SNP near MIA and RAB4B; P = 1.68 × 10(-12), OR = 1.52 for rs28493229 in ITPKC), which confirms previous findings(1). The involvement of the FCGR2A locus may have implications for understanding immune activation in Kawasaki disease pathogenesis and the mechanism of response to intravenous immunoglobulin, the only proven therapy for this disease.
This study represents the first epidemiological study based on the national registry of primary immunodeficiencies (PID) in Korea. Patient data were collected from 23 major hospitals. A total of 152 patients with PID (under 19 yr of age), who were observed from 2001 to 2005, have been entered in this registry. The period prevalence of PID in Korea in 2005 is 11.25 per million children. The following frequencies were found: antibody deficiencies, 53.3% (n = 81), phagocytic disorders, 28.9% (n = 44); combined immunodeficiencies, 13.2% (n = 20); and T cell deficiencies, 4.6% (n = 7). Congenital agammaglobulinemia (n = 21) and selective IgA deficiency (n = 21) were the most frequently reported antibody deficiency. Other reported deficiencies were common variable immunodeficiencies (n = 16), X-linked agammaglobulinemia (n = 15), IgG subclass deficiency (n = 4). Phagocytic disorder was mostly chronic granulomatous disease. A small number of patients with Wiskott-Aldrich syndrome, hyper-IgE syndrome, and severe combined immunodeficiency were also registered. Overall, the most common first manifestation was pneumonia. This study provides data that permit a more accurate estimation PID patients in Korea.
Background: This study aimed to investigate recent epidemiologic features of Kawasaki disease (KD) in South Korea. Methods: The ninth triennial nationwide questionnaire survey collected data on the demographic findings, symptoms and signs, treatment patterns and coronary artery complications of acute-phase KD occurred in 2015–2017 from 98 hospitals with pediatric residency programs and 108 community hospitals without residency programs. Results: We received data from 93 of the 98 hospitals (response rate: 94.9%) with residency programs and 75 of the 108 community-based children’s hospitals (response rate: 69.4%) without residency programs. In the 3-year survey period, a total of 15,378 (5449 in 2015, 5171 in 2016 and 4758 in 2017) cases of KD were reported. The mean age at diagnosis was 33.0 ± 24.8 months (range: 0–205 months), and the male-to-female ratio was 1.41:1. The overall KD incidence was 196.9 (202.2 in 2015, 197.1 in 2016 and 191.0 in 2017) per 100,000 younger than 5 years population. Recurrent cases were 4.85%. KD occurred more frequently during winter (December–January) and late spring (May–June). Intravenous immunoglobulin (IVIG) was administered to 95% of the patients; nonresponder rate for the first IVIG was 14.8%. Coronary artery aneurysms and giant coronary artery aneurysms (internal diameter >8 mm) occurred in 1.7% and 19 patients, respectively. Two patients died due to multiorgan failure and hepatic encephalopathy. Conclusion: Peak incidence of KD in South Korea was 202.2 per 100,000 younger than 5 years population (2015), and the incidence of giant coronary artery aneurysm decreased to 0.09% (2017).
BackgroundMycoplasma pneumoniae (MP) pneumonia is a self-limiting disease, but some patients complain of progressive pneumonia, despite of appropriate antibiotic treatment. We aimed to introduce the role of immune-modulators (corticosteroid and/or intravenous immunoglobulin, IVIG) treatment for childhood MP pneumonia based on previous our experiences.Materials and MethodsA retrospective case series analysis for 183 children with MP pneumonia was performed. MP pneumonia patients were diagnosed by two Immunoglobulin M (IgM) tests: the micro-particle agglutination method (≥1:40) and the cold agglutination test (≥1:4), and were examined twice at the initial admission and at discharge. Among 183 MP pneumonia patients, 90 patients with persistent fever for over 48 hours after admission or those with severe respiratory symptoms and signs received additional prednisolone (82 patients, 1 mg/kg/day) or intravenous methylprednisolone (8 patients, 5-10 mg/kg/day) with antibiotics. Four patients with aggravated clinical symptoms and chest radiographic findings after corticosteroid treatment received IVIG (1 g/kg/day, 1-2 doses).ResultsMean age of 183 patients was 5.5 ± 3.2 years (6 months-15 years), and the male: female ratio was 1.1:1 (96:87). Fifty-seven patients (31%) were seroconverters and 126 seropositive patients showed increased diagnostic IgM antibody titres during admission (over 4 folds). The majority of the patients who received corticosteroids (86/90 cases) showed rapid defervescence within 48 hours with improved clinical symptoms, regardless of the used antibiotics. Also, 4 patients who received additional IVIG improved both clinically and radiographically within 2 days without adverse reaction.ConclusionsIn the era of macrolide-resistant MP strains, early additional immune-modulator therapy with antibiotics might prevent from the disease progression and reduce the disease morbidity without adverse reaction.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
customersupport@researchsolutions.com
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.