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COVID-19 in children: current data and future perspectives 儿童COVID-19:当前数据和未来展望
IF 0.3 Pub Date : 2020-04-01 DOI: 10.21608/ejpa.2020.81765
E. Hossny, Rasha H. El-Owaidy
Coronaviruses (CoVs) are a large family of enveloped, single-stranded, zoonotic RNA viruses that represent one of the major pathogens that primarily targets the respiratory system. CoVs are divided into 4 genera: alpha, beta, delta, and gamma; alpha and beta CoVs are known to infect humans (human coronaviruses HCoVs). They resulted previously in the severe acute respiratory syndrome coronavirus (SARS-CoV) and Middle East respiratory syndrome coronavirus (MERSCoV). Since December 2019, a novel CoV (SARSCoV-2) started to cause infections in humans, first reported in Wuhan, Hubei province, China, with a cluster of patients presenting with pneumonia. Afterwards, the novel CoV has quickly spread throughout the world. Genomic analyses suggest that the 2019-nCoV sequencing is closely related to the bat SARSrelated CoV, but the pathogen was probably transmitted to humans by other animals which may have served as intermediate hosts facilitating the virus recombination and mutation, further adding to its genetic diversity.Two different types of 2019nCoV were identified, designated type L (accounting for 70 % of the strains) and type S (accounting for 30 %) but the difference between the two strains and clinical implications remain to be determined. The L type predominated during the early days of the epidemic in China but accounted for a lower proportion of strains outside of Wuhan.
冠状病毒(cov)是一大类包膜单链人畜共患RNA病毒,是主要以呼吸系统为目标的主要病原体之一。冠状病毒分为4属:α、β、δ和γ;已知α和β冠状病毒会感染人类(人类冠状病毒hcov)。它们之前导致了严重急性呼吸综合征冠状病毒(SARS-CoV)和中东呼吸综合征冠状病毒(MERSCoV)。自2019年12月以来,一种新型冠状病毒(SARSCoV-2)开始在人类中引起感染,首次在中国湖北省武汉市报告,出现了一群出现肺炎的患者。此后,新型冠状病毒迅速在全球蔓延。基因组分析表明,2019-nCoV序列与蝙蝠sars相关冠状病毒密切相关,但该病原体可能通过其他动物传播给人类,这些动物可能作为中间宿主促进病毒重组和突变,进一步增加了其遗传多样性。发现了两种不同类型的2019年新型冠状病毒,指定为L型(占70%)和S型(占30%),但两种菌株之间的差异及其临床意义仍有待确定。在中国流行的早期,L型占主导地位,但在武汉以外的菌株中所占比例较低。
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引用次数: 6
Updates on hereditary angioedema in pediatrics 儿科遗传性血管性水肿的最新进展
IF 0.3 Pub Date : 2019-10-15 DOI: 10.21608/ejpa.2019.53988
D. El-Ghoneimy
Introduction Angioedema is characterized by an asymmetric nondependent swelling that is generally not pruritic. The pathogenesis of angioedema results from increased vascular permeability, with leakage of plasma into the deeper skin layers in patients with angioedema. Hereditary angioedema (HAE) is a rare genetic life-long disabling disease that predisposes an individual to develop vasogenic edema. HAE is an autosomal dominant disease, and most patients with HAE have a positive family history of angioedema. The prevalence of HAE is estimated to be between 1:30,000 and 1:80,000 in the general population, and there is no evidence of sex, ethnic, or racial differences in the prevalence of HAE. 1 Awareness and recognition of this disease is important as HAE is often misdiagnosed as allergic angioedema or acute abdomen (especially acute appendicitis). This may often lead to inappropriate use of antihistamines, corticosteroids, adrenaline and sometimes even surgical interventions.
引言血管性水肿的特点是不对称的非依赖性肿胀,通常不瘙痒。血管性水肿的发病机制是由于血管通透性增加,血管性水肿患者的血浆渗漏到更深的皮肤层。遗传性血管性水肿(HAE)是一种罕见的遗传性终身致残性疾病,使个体易患血管性水肿。HAE是一种常染色体显性遗传疾病,大多数HAE患者都有血管性水肿的阳性家族史。HAE在普通人群中的患病率估计在1:30000至1:80000之间,没有证据表明HAE的患病率存在性别、种族或种族差异。1对这种疾病的认识和认识很重要,因为HAE经常被误诊为过敏性血管性水肿或急腹症(尤其是急性阑尾炎)。这通常会导致抗组胺药、皮质类固醇、肾上腺素的不当使用,有时甚至会导致手术干预。
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引用次数: 0
Pertussis seroimmunity in mother-neonate pairs and other pediatric age groups from Egypt 百日咳血清免疫在母亲-新生儿对和其他儿童年龄组从埃及
IF 0.3 Pub Date : 2019-10-15 DOI: 10.21608/ejpa.2019.53989
E. Hossny, D. El-Ghoneimy, D. Soliman, A. Taher, A. Sherief
Background: Despite the widespread availability of 2 classes of effectivevaccines, whole cell and acellular, pertussis has resurged as a seriouspublic health problem. We sought to investigate the pertussis immune statusof mother-neonate pairs and children in our country where pertussisvaccination is obligatory. Methods: This cross-sectional study included 75healthy full-term neonates and their mothers, 100 infants (2-24 months), 170children (2-12 years) and 80 adolescents (12-18 years). Serum pertussisIgG was measured in all enrolled subjects. A positive titre was defined as>24 U/ml. Results: Positive pertussis IgG levels were detected in 69 of themothers (92%), in 63 of their newborns (84%). Seroimmunity to pertussiswas positively noted in 55% of infants, 82.2% of preschool children, 77.5%of school-aged children and 75% in adolescents. Serum pertussis IgG titersamong the neonates showed a significant positive correlation with thematernal titers (P=0.00001). Higher rates of pertussis seroimmunity wasobserved among residents in urban and suburban areas as compared tothose living in rural areas (P<0.05) . Conclusion: This pilot study maysuggest the presence of sufficient pertussis seroimmunity rates in the studiedage groups. Still, there were some failures in immune acquisition probablydue to inefficient vaccination in some localities or waning of immunity withage. Wider scale studies would allow better insight into the pertussisimmune status in our country and hence the need for booster immunization.
背景:尽管有两类有效的百日咳疫苗,全细胞和非细胞疫苗广泛可用,但百日咳已重新成为一个严重的公共卫生问题。我们试图调查百日咳疫苗接种是强制性的我国母亲-新生儿对和儿童的百日咳免疫状况。方法:本横断面研究纳入75例健康足月新生儿及其母亲、100例婴儿(2-24个月)、170例儿童(2-12岁)和80例青少年(12-18岁)。对所有受试者进行血清百日咳igg测定。阳性滴度定义为bb0 24 U/ml。结果:69名母亲(92%)和63名新生儿(84%)检测出百日咳IgG阳性。55%的婴儿、82.2%的学龄前儿童、77.5%的学龄儿童和75%的青少年对百日咳血清免疫呈阳性。新生儿血清百日咳IgG滴度与母亲滴度呈显著正相关(P=0.00001)。城市和郊区居民百日咳血清免疫率高于农村居民(P<0.05)。结论:这项初步研究可能表明在研究年龄组中存在足够的百日咳血清免疫率。但仍有部分地区由于疫苗接种效率低下或免疫减龄下降等原因导致免疫获取失败。更大规模的研究可以更好地了解我国百日咳免疫状况,因此需要加强免疫接种。
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引用次数: 0
Can montelukast correct immune dysregulation in preschool children with mild persistent asthma? 孟鲁司特能纠正轻度持续性哮喘学龄前儿童的免疫失调吗?
IF 0.3 Pub Date : 2019-10-01 DOI: 10.21608/ejpa.2019.53993
A. El-Kelany, Maha M Anani, H. Omar, Asmaa A. Hashem, E. Fathy
Background: Asthma is the most common inflammatory disorder amongpreschool and school-age children. Regulation of immune cells and theircytokines is essential to control asthma. Montelukast is a leukotrienereceptor antagonist that suppresses inflammatory cell proliferation, andreduces cytokines and mediator secretion. Objective: The researchteam's goal was to study the immunological parameters among mildasthmatic patients before and after the treatment with Montelukast .Methods: Forty preschool children with mild persistent asthma andtwenty healthy, non-allergic children were included in the study. Bloodeosinophil count, total IgE, serum IL-4, IL-10, and IL-13 levels wereassessed. T helper (CD3+CD4+) and T regulatory (CD4+CD25+) cellcounts were measured using flow cytometry; for mild asthmatics beforeand after six weeks of treatment with Montelukast and for the controlgroup. Results: Asthmatic children have shown a significant elevation ofserum levels of IgE, IL4 and IL13, and also an increase of eosinophils,total lymphocyte T cells and T helper cell count. However; serum levelsof IL10 and Treg cell count was lower in asthmatics compared to control.Following six weeks of Montelukast treatment, all immunologicalparameters improved. There was a significant elevation of serum levelsof IL10 and Treg cell count, with a decrease in serum levels of IgE, IL4and IL13; eosinophil counts, and helper T cells. Conclusion:Montelukast treatment improves the impaired immunological balance ofmild asthmatic children through the increase of serum IL-10, Tregulatory cell counts that have anti-inflammatory andimmunoregulatory effects. It also decreases T helper cells and theirproinflammatory cytokines.
背景:哮喘是学龄前儿童最常见的炎症性疾病。免疫细胞及其细胞因子的调节对控制哮喘至关重要。孟鲁司特是一种白三烯受体拮抗剂,可抑制炎症细胞增殖,减少细胞因子和介质分泌。目的:研究孟鲁司特治疗前后轻度哮喘患者的免疫参数。评估血液嗜酸性粒细胞计数、总IgE、血清IL-4、IL-10和IL-13水平。使用流式细胞术测量T辅助细胞(CD3+CD4+)和T调节细胞(CD4+CD25+)计数;用于孟鲁司特治疗前后的轻度哮喘患者和对照组。结果:哮喘儿童血清IgE、IL4和IL13水平显著升高,嗜酸性粒细胞、总淋巴细胞T细胞和辅助T细胞计数增加。然而哮喘患者血清IL10和Treg细胞计数水平低于对照组。孟鲁司特治疗6周后,所有免疫参数均有所改善。血清IL10和Treg细胞计数显著升高,IgE、IL4和IL13水平降低;嗜酸性粒细胞计数和辅助性T细胞。结论:孟鲁司特治疗通过提高血清IL-10、具有抗炎和免疫调节作用的调节细胞计数,改善轻度哮喘儿童受损的免疫平衡。它还降低了T辅助细胞及其促炎细胞因子。
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引用次数: 1
CXCR 3 expression on CD4+T cells and in renal tissue of pediatric systemic lupus erythematosus patients cxcr3在儿童系统性红斑狼疮患者CD4+T细胞及肾组织中的表达
IF 0.3 Pub Date : 2019-10-01 DOI: 10.21608/ejpa.2019.53991
M. Ibrahim, S. El-Sayed, R. Said, N. Radwan, M. Ismail, N. Ahmed
Background: Pediatric systemic lupus erythematosus (pSLE) accounts forabout 20% of all cases of Systemic Lupus Erythematosus (SLE), withnephritis occurring in approximately 50% of the patients. Objective: toevaluate the expression of CXCR3 in the kidneys and on CD4+ T cells inpSLE. Methods: This study was conducted on 45 patients with pSLEfollowing up at the Allergy and Immunology Clinic, Children’s Hospital, AinShams University and 45 age and sex matched healthy children as a controlgroup. Medical history, clinical examination and routine laboratoryinvestigations for assessment of disease activity were done for all patients,the frequency of CXCR3, CD4+ T cells was determined in all patients andcontrols. Twenty-five Paraffin blocks of patients with lupus nephritis (LN)(available at the time of the study) underwent immunohistochemistrystaining for the frequencies of Chemokine C receptor (CXCR3). Results:The absolute level and percentage of serum CD4+CXCR3+ weresignificantly lower among our patients as compared to healthy controls. Asignificant direct correlation was found between serum CD4+CXCR3+ andboth the lymphocytic count and quantitative Systemic Lupus erythematosusdisease activity index (SLEDAI), as well as a significant inverse correlationbetween it and 24 hours urinary proteins. Variable degrees of CXCR3expression seemed to have no impact on laboratory tests, British Isles LupusAssessment Group (BILAG) score and cumulative doses ofImmunosuppressives. Conclusion: Serum CD4+CXCR3+ and not renalCXCR3 may be a potential marker of LN activity.
背景:小儿系统性红斑狼疮(pSLE)约占所有系统性红斑狼疮(SLE)病例的20%,其中约50%的患者发生肾炎。目的:探讨肾组织中CXCR3及psle患者CD4+ T细胞的表达。方法:选取在安沙姆斯大学儿童医院过敏与免疫学门诊随访的45例pslea患者和45例年龄、性别匹配的健康儿童作为对照组。对所有患者进行病史、临床检查和疾病活动性评估的常规实验室调查,并测定所有患者和对照组CXCR3、CD4+ T细胞的频率。25个狼疮性肾炎(LN)患者石蜡块(在研究时可用)进行免疫组织化学染色,检测趋化因子C受体(CXCR3)的频率。结果:与健康对照组相比,患者血清CD4+CXCR3+的绝对水平和百分比明显降低。血清CD4+CXCR3+与淋巴细胞计数和系统性红斑狼疮疾病活动性指数(SLEDAI)呈显著正相关,与24小时尿蛋白呈显著负相关。不同程度的cxcr3表达似乎对实验室测试、不列颠群岛狼疮评估组(BILAG)评分和免疫抑制剂的累积剂量没有影响。结论:血清CD4+CXCR3+而非肾CXCR3可能是LN活性的潜在标志物。
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引用次数: 0
Association of T helper type 2 cytokines with sensitization to food in pediatric atopic dermatitis patients 儿童特应性皮炎患者T辅助型2细胞因子与食物致敏的关系
IF 0.3 Pub Date : 2019-10-01 DOI: 10.21608/ejpa.2019.53990
I. Paulauskaitė, A. Eidukaitė, O. Rudzevičienė, R. Orentaitė
Background: childhood atopic dermatitis (AD) most commonly presentswith sensitization to environmental allergens. Presence of food allergenspecificIgE is common in childhood and does not always correlate withclinical symptoms, which in children usually affect the skin and mayexacerbate the course of AD. Exposure to an allergen in the gastrointestinaltract activates Th2 immune reactions. Objective: with this study we wantedto compare blood and stool Th2 cytokine concentrations and fecalcalprotectin (FC) value in pediatric AD with (eAD) and without (iAD)sensitization to food. Methods: 51 children with AD were enrolled in thestudy. 57% (n=29) had food allergen specific IgE and comprised eADgroup, 43% (n=22) – iAD group. Blood and stool were tested for IL-4, IL-5,IL-13 concentrations using an enzyme linked immunosorbent assay. Stoolsamples were tested for FC concentrations. Results: iAD had significantlyhigher blood and stool IL-4 values than eAD: 2.82 pg/ml vs. 0, p=0.005;2.98 pg/ml vs. 0, p=0.007, respectively. There was no difference in IL-5 andIL-13 blood and stool concentrations between the groups. Children with ADhad significantly higher FC values, compared to healthy controls: 36.5mg/kg vs. 6.45 mg/kg, p=0.018. FC was slightly higher in eAD group thaniAD, but the difference was not significant: 38.5 mg/kg vs. 25.0 mg/kg,p=0.861 . Conclusions: sensitization to food is not significantly associatedwith Th2 cytokines in pediatric AD patients. Increase in FC values ischaracteristic to AD, but not sensitization to food.
背景:儿童特应性皮炎(AD)最常见的表现是对环境过敏原的致敏。食物过敏原特异性ige的存在在儿童中很常见,并不总是与临床症状相关,在儿童中通常会影响皮肤并可能加剧AD的病程。在胃肠道中接触过敏原会激活Th2免疫反应。目的:通过本研究,我们希望比较儿童AD伴(eAD)和不伴(iAD)食物敏化的血液和粪便Th2细胞因子浓度和粪钙保护蛋白(FC)值。方法:51例AD患儿纳入研究。57% (n=29)有食物过敏原特异性IgE,包括ead组,43% (n=22) - iAD组。采用酶联免疫吸附法检测血液和粪便中IL-4、IL-5、IL-13的浓度。对粪便样本进行氟氯烃浓度检测。结果:iAD组血液和粪便IL-4值明显高于eAD组:分别为2.82 pg/ml和2.98 pg/ml, p=0.005和0,p=0.007。各组血液和粪便中IL-5和il -13浓度无差异。与健康对照者相比,adhd儿童的FC值明显更高:36.5mg/kg vs. 6.45 mg/kg, p=0.018。eAD组FC略高于iad组,但差异不显著:38.5 mg/kg vs. 25.0 mg/kg,p=0.861。结论:儿童AD患者对食物的敏感性与Th2细胞因子无显著相关性。FC值的增加是AD的特征,但不是对食物的敏化。
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引用次数: 0
Allergy-immunology glossary 过敏术语表负责人
IF 0.3 Pub Date : 2019-04-01 DOI: 10.21608/EJPA.2019.41539
Z. El-Sayed
Mast cells VEGF is a highly specific mitogen for vascular endothelial cells. Five VEGF isoforms are generated as a result of alternative splicing from a single VEGF gene. The expression of VEGF is potentiated in response to hypoxia, by activated oncogenes, and by a variety of cytokines. VEGF induces endothelial cell proliferation, promotes cell migration, and inhibits apoptosis. In vivo VEGF induces angiogenesis as well as permeabilization of blood vessels, and plays a central role in the regulation of vasculogenesis. Deregulated VEGF expression contributes to the development of solid tumors and to several additional diseases by promoting tumor angiogenesis. Consequently, inhibition of VEGF signaling abrogates the development of a wide variety of tumors. The various VEGF forms bind to two tyrosine-kinase receptors, VEGFR-1 (flt-1) and VEGFR-2 (KDR/flk-1), which are expressed almost exclusively in endothelial cells. 1 يناطبلا ومنلا لماع يئاعولا ٢
肥大细胞VEGF是血管内皮细胞高度特异性的丝裂原。由于单个VEGF基因的选择性剪接,产生了五种VEGF亚型。在缺氧、癌基因激活和多种细胞因子的作用下,VEGF的表达增强。VEGF诱导内皮细胞增殖,促进细胞迁移,抑制细胞凋亡。在体内,VEGF诱导血管生成和血管通透性,在血管生成调控中起核心作用。不受调节的VEGF表达通过促进肿瘤血管生成,促进实体瘤和其他一些疾病的发展。因此,抑制VEGF信号可以阻断多种肿瘤的发展。各种形式的VEGF结合两种酪氨酸激酶受体,VEGFR-1 (flt-1)和VEGFR-2 (KDR/flk-1),这两种受体几乎只在内皮细胞中表达。1 يناطبلا ومنلا لماع يئاعولا缌
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引用次数: 1
Vitamin D level in preschool children with recurrent wheezy chest, and its relation to the severity of the wheezing episodes 学龄前反复喘息性胸患儿维生素D水平及其与喘息发作严重程度的关系
IF 0.3 Pub Date : 2019-04-01 DOI: 10.21608/EJPA.2019.41534
N. Osman, Hanaa A. Mohammad, Kotb Abbass Metwalley, Mostafa M. Embaby, T. ElMelegy
Background: Recurrent wheezy chest is a common complaint in pediatric practice. Vitamin D is a potent immunomodulator in allergic diseases as wheezy chest and asthma. The prevalence of vitamin D deficiency has been increasing in Egypt leading to significant morbidities. Objectives: This study aimed to assess serum 25 hydroxy (OH) Vitamin D level in preschool children with recurrent wheezy chest, and to assess its relation to the recurrence, severity, and level of control of the wheezing episodes. Methods: The study included 100 preschool children (aged 2 to 5 years), of both sexes, recruited from the Emergency department, Allergy and Pulmonology units at Assiut University Children Hospital, Egypt. They should have at least 3 documented episodes of wheeze, cough, and difficulty breathing in the last year with clinical improvement on inhaled short-acting beta 2 agonists. Patients were subjected to questionnaire-based history, clinical examination, and laboratory investigations (complete blood count (CBC) with the absolute eosinophil count, serum total IgE level, and serum 25 hydroxy (OH) Vitamin D level). Pediatric Respiratory Assessment Measure (PRAM score) for assessment of the severity of the wheezing episodes and Global Initiative for Asthma (GINA) based level of asthma control for children 5 years and younger were applied. The patients were grouped according to PRAM score to mild, moderate and severe episodes and according to vitamin D level as sufficient and below-sufficient groups (including deficient and insufficient patients). Results: 25(OH) Vitamin D level was below-sufficient in 53% of the studied patients (deficient in 32% and insufficient in 21%). PRAM score was significantly lower in patients with sufficient 25(OH) Vitamin D level versus those with below-sufficient level (p < 0.025). There was a significant negative correlation between PRAM score and 25 (OH) Vitamin D level (r = -0.334, p = 0.001). Conclusion: There is an inverse relationship between 25(OH)vitamin D level and parameters of asthma severity, as well as with the level of asthma control in preschool children with recurrent wheezy chest. Keywords: Vitamin D, recurrent wheezy chest, preschool children
背景:反复发作的喘息性胸闷是儿科常见的主诉。维生素D是过敏性疾病如喘息性胸闷和哮喘的有效免疫调节剂。埃及维生素D缺乏症的患病率一直在上升,导致了严重的疾病。目的:本研究旨在评估复发性喘息性胸闷的学龄前儿童血清25-羟基(OH)维生素D水平,并评估其与喘息发作的复发、严重程度和控制水平的关系。方法:这项研究包括100名学龄前儿童(2至5岁),他们来自埃及阿西尤特大学儿童医院的急诊科、过敏科和肺病科。他们在过去一年中应至少有3次喘息、咳嗽和呼吸困难的记录,吸入的短效β2激动剂的临床疗效有所改善。患者接受了基于问卷的病史、临床检查和实验室调查(全血细胞计数(CBC)、绝对嗜酸性粒细胞计数、血清总IgE水平和血清25-羟基(OH)维生素D水平)。应用儿科呼吸评估量表(PRAM评分)评估喘息发作的严重程度,并对5岁及以下儿童应用基于全球哮喘倡议(GINA)的哮喘控制水平。根据PRAM评分将患者分为轻度、中度和重度发作,并根据维生素D水平分为充足组和不足组(包括缺乏和不足患者)。结果:53%的研究患者的25(OH)维生素D水平低于充足水平(32%缺乏,21%不足)。25(OH)维生素D水平充足的患者的PRAM评分显著低于25(OH-)维生素D含量不足的患者(p<0.025)。PRAM评分与25(OH-)维生素D水平呈显著负相关(r=-0.334,p=0.001),以及与患有反复喘息性胸闷的学龄前儿童的哮喘控制水平有关。关键词:维生素D,复发性喘息性胸闷,学龄前儿童
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引用次数: 1
Eczema the hidden face of primary immunodeficiency diseases 湿疹是原发性免疫缺陷疾病的隐藏面孔
IF 0.3 Pub Date : 2019-04-01 DOI: 10.21608/EJPA.2019.41531
N. Radwan
Primary immunodeficiency diseases (PIDs) are a group of more than 130 disorders caused by genetic defects of the immune system. Most of these disorders are caused by single gene defects, but the variable penetrance of these mutations results in heterogeneous phenotypes which lead to a delay in the diagnosis. In the USA, the prevalence of all PIDs per 100,000 has increased over the last decade from 66.6 in 2003 to 126.8 in 2012 and this could reflect the rise in the disease awareness. The classical clinical presentation of PIDs includes recurrent or unusual infections, however, new presentations are now coming to attention such as autoimmune diseases, malignancy and cutaneous manifestations. Cutaneous manifestation in PIDs affects around 40 % to 70 % of patients and they include various presentation as eczema, cutaneous granulomas, recurrent abscesses, dysplasia of skin, hair, and nails, autoimmune conditions, and others. Dhouib et al found that the incidence of cutaneous manifestation among 200 children with PIDs to be 56%, whereas Al-Herz et al and Moin et al found it to be 48% and 32% respectively. Cutaneous manifestations could be the first presenting symptoms and faulty presenting to dermatologist. In a series of 75 patients with severe dermatitis with no known underlying primary immunodeficiency, Aghamohammadi et al identified 5 patients with hyperimmunoglobulin E syndrome (HIES) and one patient with Wiskott Aldreich syndrome (WAS). This raises the awareness to suspect an underlying PID in patients presenting with severe and nonresolving cutaneous manifestation. Eczema (Atopic dermatitis “AD”) is an inflammatory, chronically relapsing, noncontagious and extremely pruritic skin disease. It is commonly associated with an elevation in total immunoglobulin E, which sometimes correlates with disease severity. The prevalence of childhood AD ranges from 15% to 30%. AD is one of the commonest cutaneous manifestations for some PID diseases and sometime used as one of the disease diagnostic critieria of HIES, WAS, and others (Table). It is characterized by being severe, resistant to treatment and associated by chronic or recurrent viral or bacterial infections. Such condition confirms the importance of eliciting history of recurrent infections in affected patients or history of infection in any of their family members .
原发性免疫缺陷疾病(PID)是由免疫系统的遗传缺陷引起的130多种疾病。这些疾病大多是由单基因缺陷引起的,但这些突变的外显率可变会导致异质表型,从而导致诊断延迟。在美国,过去十年中,每100000人中所有PID的患病率从2003年的66.6上升到2012年的126.8,这可能反映了疾病意识的提高。PID的经典临床表现包括复发或不寻常感染,然而,新的表现正在引起人们的注意,如自身免疫性疾病、恶性肿瘤和皮肤表现。PID的皮肤表现影响约40%至70%的患者,包括湿疹、皮肤肉芽肿、复发性脓肿、皮肤、头发和指甲发育不良、自身免疫性疾病等各种表现。Dhouib等人发现,200名PID儿童的皮肤表现发生率为56%,而al-Herz等人和Moin等人分别为48%和32%。皮肤表现可能是皮肤科医生最先出现的症状和错误的表现。Aghamohammadi等人在一系列75名没有已知潜在原发性免疫缺陷的严重皮炎患者中,确定了5名患有高免疫球蛋白E综合征(HIES)的患者和1名患有Wiskott-Aldreich综合征(WAS)的患者。这提高了人们对严重且无缓解性皮肤表现的患者潜在PID的怀疑意识。湿疹(特应性皮炎“AD”)是一种炎症性、慢性复发、非传染性和极度瘙痒的皮肤病。它通常与总免疫球蛋白E的升高有关,这有时与疾病的严重程度有关。儿童AD的患病率在15%到30%之间。AD是一些PID疾病最常见的皮肤表现之一,有时也被用作HIES、WAS和其他疾病的诊断标准之一(表)。其特征是严重,对治疗有抵抗力,并伴有慢性或复发性病毒或细菌感染。这种情况证实了引发受影响患者复发感染史或其任何家庭成员感染史的重要性。
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引用次数: 0
FOXO3a gene polymorphism and bronchial asthma in Egyptian children FOXO3a基因多态性与埃及儿童支气管哮喘的关系
IF 0.3 Pub Date : 2019-04-01 DOI: 10.21608/EJPA.2019.41535
Niha Elrifai, Hanan A. Al-Wakeel, H. Osman, Rania El Taweel
Background: FOXO3a proteins play multiple crucial roles in immune response. FOXO3 inhibits T cell proliferation, induces T cell apoptosis via upregulation of proapoptotic proteins and it suppresses T cell activation preventing autoimmunity. The role of FOXO3a gene in the pathogenesis of bronchial asthma has been studied in few ethnic groups and revealed its implication in asthma pathogenesis. Objectives: The aim of the current study is to detect the association between single nucleotide polymorphism of the FOXO3a gene (rs13217795) and bronchial asthma, atopy and asthma severity in Egyptian children. Methods: The current cross-sectional case-control study was performed on 75 asthmatic children aged 2 to 12 years following up in the pulmonology outpatient clinic in Children's hospital, Cairo University and 75 age and sex matched healthy controls. Candidates were subjected to clinical evaluation in addition to genotyping for the FOXO3a gene polymorphism using PCR-RFLP technique. Results: The highest frequency was for the heterozygous type CT in both cases and controls groups. The genotype frequencies of mutant type TT for cases and controls were 12 % and 16% respectively, and the T allele frequencies were 37.2% in cases and 46.7% in the control group while CC genotype was present in 37.3% of asthmatic patients and 22.6% in the controls and the C allele was detected in 62.8% and 53.3% for cases and controls respectively. No statistically significant differences were observed between asthmatic patients and controls regarding the different genotypes of the FOXO3a gene polymorphism (p=0.161). No significant association was detected between the different genotypes of the FOXO3a gene polymorphism and the atopic status (p=0.536) or the different grades of asthma severity (p= 0.545). Conclusions: The study of FOXO3a gene polymorphism (rs13217795) in asthmatic Egyptian children revealed low frequency of the mutant TT genotype among cases and controls. In the current study, FOXO3a polymorphism has no role in the pathogenesis of asthma or atopy. Moreover, it has no relation to degree of disease severity. Keywords: Asthma, FOXO3a, gene, children, Egyptian, polymorphism
背景:FOXO3a蛋白在免疫反应中起着多种关键作用。FOXO3抑制T细胞增殖,通过上调促凋亡蛋白诱导T细胞凋亡,并抑制T细胞活化,阻止自身免疫。FOXO3a基因在支气管哮喘发病机制中的作用已在少数民族中进行了研究,并揭示了其在哮喘发病机制方面的意义。目的:本研究的目的是检测FOXO3a基因(rs13217795)单核苷酸多态性与埃及儿童支气管哮喘、特应性和哮喘严重程度之间的关系。方法:对开罗大学儿童医院肺科门诊随访的75名2至12岁哮喘儿童和75名年龄和性别匹配的健康对照进行横断面病例对照研究。除了使用PCR-RFLP技术对FOXO3a基因多态性进行基因分型外,还对候选者进行临床评估。结果:在病例组和对照组中,杂合子型CT的发生率最高。突变型TT病例和对照组的基因型频率分别为12%和16%,T等位基因频率分别为37.2%和46.7%,CC基因型在哮喘患者和对照组中分别为37.3%和22.6%,C等位基因在病例和对照中分别为62.8%和53.3%。FOXO3a基因多态性的不同基因型在哮喘患者和对照组之间没有观察到统计学上的显著差异(p=0.161)埃及哮喘儿童的基因多态性(rs13217795)显示,病例和对照组TT基因型突变频率较低。在目前的研究中,FOXO3a多态性在哮喘或特应性的发病机制中没有作用。此外,它与疾病的严重程度无关。关键词:哮喘,FOXO3a,基因,儿童,埃及,多态性
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引用次数: 6
期刊
Egyptian Journal of Pediatric Allergy and Immunology
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