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排序方式: 共有249条查询结果,搜索用时 15 毫秒
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The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes. Belgian Diabetes Registry 总被引:8,自引:1,他引:8
Nistico L; Buzzetti R; Pritchard LE; Van der Auwera B; Giovannini C; Bosi E; Larrad MT; Rios MS; Chow CC; Cockram CS; Jacobs K; Mijovic C; Bain SC; Barnett AH; Vandewalle CL; Schuit F; Gorus FK; Tosi R; Pozzilli P; Todd JA 《Human molecular genetics》1996,5(7):1075-1080
Susceptibility to autoimmune insulin-dependent (type 1) diabetes mellitus
is determined by a combination of environmental and genetic factors, which
include variation in MHC genes on chromosome 6p21 (IDDM1) and the insulin
gene on chromosome 11p15 (IDDM2). However, linkage to IDDM1 and IDDM2
cannot explain the clustering of type 1 diabetes in families, and a role
for other genes is inferred. In the present report we describe linkage and
association of type 1 diabetes to the CTLA-4 gene (cytotoxic T lymphocyte
associated-4) on chromosome 2q33 (designated IDDM12). CTLA-4 is a strong
candidate gene for T cell- mediated autoimmune disease because it encodes a
T cell receptor that mediates T cell apoptosis and is a vital negative
regulator of T cell activation. In addition, we provide supporting evidence
that CTLA-4 is associated with susceptibility to Graves' disease, another
organ- specific autoimmune disease.
相似文献
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Bronchiectasis and deteriorating lung function in agammaglobulinaemia despite immunoglobulin replacement therapy
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A. Stubbs C. Bangs B. Shillitoe J. D. Edgar S. O. Burns M. Thomas H. Alachkar M. Buckland E. McDermott G. Arumugakani M. S. Jolles R. Herriot P. D. Arkwright 《Clinical and experimental immunology》2018,191(2):212-219
Immunoglobulin replacement therapy enhances survival and reduces infection risk in patients with agammaglobulinaemia. We hypothesized that despite regular immunoglobulin therapy, some patients will experience ongoing respiratory infections and develop progressive bronchiectasis with deteriorating lung function. One hundred and thirty‐nine (70%) of 199 patients aged 1–80 years from nine cities in the United Kingdom with agammaglobulinaemia currently listed on the UK Primary Immune Deficiency (UKPID) registry were recruited into this retrospective case study and their clinical and laboratory features analysed; 94% were male, 78% of whom had Bruton tyrosine kinase (BTK) gene mutations. All patients were on immunoglobulin replacement therapy and 52% had commenced therapy by the time they were 2 years old. Sixty per cent were also taking prophylactic oral antibiotics; 56% of patients had radiological evidence of bronchiectasis, which developed between the ages of 7 and 45 years. Multivariate analysis showed that three factors were associated significantly with bronchiectasis: reaching 18 years old [relative risk (RR) = 14·2, 95% confidence interval (CI) = 2·7–74·6], history of pneumonia (RR = 3·9, 95% CI = 1·1–13·8) and intravenous immunoglobulin (IVIG) rather than subcutaneous immunoglobulin (SCIG) = (RR = 3·5, 95% CI = 1·2–10·1), while starting immunoglobulin replacement after reaching 2 years of age, gender and recent serum IgG concentration were not associated significantly. Independent of age, patients with bronchiectasis had significantly poorer lung function [predicted forced expiratory volume in 1 s 74% (50–91)] than those without this complication [92% (84–101)] (P < 0·001). We conclude that despite immunoglobulin replacement therapy, many patients with agammaglobulinaemia can develop chronic lung disease and progressive impairment of lung function. 相似文献
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Barcus MJ Laihad F Sururi M Sismadi P Marwoto H Bangs MJ Baird JK 《The American journal of tropical medicine and hygiene》2002,66(3):287-292
After more than 50 years of effective management, resurgent malaria threatens residents in the Menoreh Hills and the foothills of the Dieng Plateau of Central Java, Indonesia. The Dieng Plateau dominates the highland center of Central Java. The steep Menoreh Hills, surrounded by rice paddy habitats, cover approximately 500 km2 with no peaks greater than 1,000 m. We studied epidemic malaria in Purworejo district, one of the three districts containing the Menoreh Hills. Between 1986 and 1995, the annual parasite incidence (API) in Purworejo ranged from 2 to 11 cases per 1,000 residents per year and was typically approximately 5 per 1,000. In 2000 the API was 44.5. This sharp increase was confined to subdistricts in and around the Menoreh Hills and Dieng Plateau foothills. The primary vectors of malaria, those favoring steep, forested hillsides on Java, were Anopheles maculatus and Anopheles balabacensis. Deterioration of vector control activity, followed by a severe economic downturn in 1997, may explain the epidemic. Malaria in the Menoreh Hills and lower Dieng Plateau threatens surrounding areas of rice paddy inhabited by Anopheles aconitus as well as a nearby coastal habitat where the even more efficient vector Anopheles sundaicus occurs in abundance. Most of the 130 million people living on Java never experienced the hyper- and holoendemic malaria that occurred throughout most of the island before the effective DDT spraying and chloroquine treatment campaigns of the 1950s. Reintroduced endemic malaria threatens the island of Java. 相似文献
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Hudson Keenihan SN Ratiwayanto S Soebianto S Krisin Marwoto H Krishnegowda G Gowda DC Bangs MJ Fryauff DJ Richie TL Kumar S Baird JK 《The American journal of tropical medicine and hygiene》2003,69(1):36-41
Immune responses directed at glycosylphosphatidylinositol (GPI) anchors of Plasmodium falciparum may offer protection against symptomatic malaria. To independently explore the effect of age on generation of the anti-GPI IgG response, we measured serum anti-GPI IgGs in a longitudinal cohort of migrant Javanese children (6-12 years old) and adults (> or = 20 years old) with equivalent numbers of exposures to P. falciparum in Papua, Indonesia. While the peak response in adults was achieved after a single infection, comparable responses in children required > or = 3-4 infections. Significantly fewer children (16%) than adults (41%) showed a high (optical density > 0.44) anti-GPI IgG response (odds ratio [OR] = 3.8, 95% confidence interval [CI] = 2.3-6.3, P < 0.0001), and adults were more likely to show a persistently high response (OR = 5.5, 95% CI = 1.0-56.8, P = 0.03). However, the minority of children showing a strong response were significantly less likely to experience symptoms with subsequent parasitemia compared with those with a weak response (OR = 4.0, 95% CI = 1.1-13.8, P = 0.02). This effect was not seen among high- and low-responding adults (OR = 1.2, 95% CI = 0.5-2.8, P = 0.60). Host age, independent of cumulative exposure, apparently represents a key determinant of the quantitative and qualitative nature of the IgG response to P. falciparum GPI. 相似文献
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Barcus MJ Krisin Elyazar IR Marwoto H Richie TL Basri H Wiady I Fryauff DJ Maguire JD Bangs MJ Baird JK 《Annals of tropical medicine and parasitology》2003,97(6):565-574
The clinical and parasitological characteristics of the first naturally acquired malarial infection have rarely been documented in humans. When 243 migrants from non-endemic Java were followed from the day of their arrival in Indonesian Papua, 217 (89%) were found to become infected with Plasmodium falciparum and/or P. vivax before they were lost to follow-up. The incidence of malarial infection in the children investigated (who were aged 6-10 years) was indistinguishable from that in the adults (aged >20 years), with 1.10 and 1.14 P. falciparum infections/person-year (relative risk=0.97; 95% confidence interval=0.72-1.29) and 1.47 and 1.49 P. vivax infections/person-year (relative risk=0.99; 95% confidence interval=0.72-1.29), respectively. During their first infections, the children had higher P. falciparum parasitaemias than the adults (with geometric means of 1318 and 759 parasites/microl, respectively; P=0.04) but similar P. vivax parasitaemias (with geometric means of 355 and 331 parasites/microl, respectively; P=0.76). At first infection, 56% of the subjects were febrile and 90% complained of symptoms. There were no differences between children and adults with respect to these two parameters, either for P. falciparum or P. vivax. These findings indicate that, with promptly diagnosed and treated uncomplicated malaria, migrant children and adults in north-eastern Indonesian Papua have an equal risk of malarial infection and of disease following their first infections with P. falciparum and P. vivax. 相似文献
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Din Syafruddin Michael J. Bangs Dian Sidik Iqbal Elyazar Puji BS Asih Krisin Chan Siti Nurleila Christian Nixon Joko Hendarto Isra Wahid Hasanuddin Ishak Claus B?gh John P. Grieco Nicole L. Achee J. Kevin Baird 《The American journal of tropical medicine and hygiene》2014,91(6):1079-1087
A randomized, double-blinded, placebo-controlled study was conducted to examine the effect of spatial repellent (SR) in households at risk of malaria in Indonesia. Following presumptive radical cure for malaria in 180 adult men representing sentinels of new infection in four clusters within two villages, all households were given either metofluthrin or placebo mosquito coils. Weekly blood smear screening and human-landing mosquito catches were done throughout the 6 months intervention. Malaria infections occurred in 61 subjects living in placebo households and 31 subjects living in SR coil households, suggesting a 52% protective effect of SR. Likewise, anopheles indoor human landing rates were 32% lower in homes receiving SR coils. Differences in the malaria attack rate between SR- and placebo-treated homes was significant when not accounting for the effects of clustering. When the analysis was adjusted for intra-cluster correlation, the differences between SR- and placebo-treated homes were not statistically significant. The findings provide evidence of SR public health benefit and support a larger trial statistically powered to detect those effects. 相似文献