儿童急性淋巴细胞白血病T细胞受体重排删除环与严重感染相关性研究

目的：定量检测急性淋巴细胞白血病（急淋）患儿不同阶段外周血中信号连接/结合T细胞受体重排删除环（sjTRECs）水平的变化,以评价其作为预测化疗后严重感染指标的可行性。方法：共收集初发急淋患儿（初发组,n=30）、早期强化化疗结束后白细胞恢复且未感染患儿（化疗组,n=36）、化疗后严重感染患儿（感染组,n=30）及正常同龄儿童（正常组,n=50）外周血标本共146份,通过FQ PCR法检测其sjTRECs水平,并进行组间比较。结果：正常组平均sjTRECs为（394±270）copies/103 MNC,高于其他3组（P<0.05）;化疗组sjTRECs水平低于初发组 ［(96±78) copies/103 MNC vs (210±219）copies/103 MNC,P<0.05］;感染组sjTRECs水平最低,仅为（48±40） copies/103 MNC。结论：监测急淋患儿化疗后sjTRECs水平变化可能有助于早期预测机体严重感染的发生。     

Expression of IL-2 Receptor/p75 on Lymphocytes from Patients with Rubella

We analyzed the Interleukin-2 receptor (IL-2R) expression on fresh lymphocytes from three patients with rubella. Flow cytometric analysis demonstrated that lymphocytes from the patients expressed a considerable amount of IL-2R/p75 recognized by Mik-βl monoclonal antibody (MoAb), although they did not react with anti-IL-2R/pS5 (CD2S) MoAb. The expression of IL-2R/p75 reached a peak at the end of the acute phase of illness. Fresh lymphocytes from rubella patients showed a marked proliferative response to IL-2, which was completely inhibited by Mik-βl, indicating that their IL-2R is a functional receptor. The present data suggest that IL-2R/p75 expression is involved in the host immune response triggered by the rubella virus.     

急性ITP患儿外周血调节性T细胞及相关细胞因子的研究

目的检测急性特发性血小板减少性紫癜(AITP)患儿外周血CD4+CD25+调节性T细胞(regulationTcells,Tr细胞)及相关细胞因子的变化,探讨它们在AITP发病机制中的作用。方法流式细胞仪分别检测AITP患儿和正常健康儿童外周血Tr细胞的数量,ELISA法检测血清中相关细胞因子的含量,并进行相关性分析。结果AITP患儿外周血Tr细胞的数量明显低于正常对照组[(2.83±1.05)%vs(5.07±0.59)%,P<0.05];AITP患儿血清中IL-10、转化生长因子β1(TGF-β1)的含量均也低于正常对照组[IL-10:(29.48±13.69)pg/mlvs(43.10±14.95)pg/ml;TGF-β1(170.04±91.58)pg/mlvs(254.75±130.41)pg/ml,P<0.05],差异有显著性。AITP患儿外周血Tr细胞的比例与血清中IL-10、TGF-β1的含量都呈正相关(r1=0.54,r2=-0.66,P<0.05)。结论急性ITP患儿外周血中Tr细胞数量的减少及相关细胞因子含量的降低可能与急性ITP的细胞免疫失调有关。     

新生儿缺氧缺血性脑病细胞免疫功能的变化及其临床意义

目的：观察新生儿缺氧缺血性脑病(H IE)患儿外周血T细胞亚群和膜白介素-2受体(m IL-2R),血清IL-1,βIL-6,IL-10表达水平,探讨免疫学变化在H IE发病中的意义。方法：用生物素-链霉亲和素(BSA)系统检测新生儿H IE及足月正常新生儿生后第1,3,7天CD3+,CD4+,CD8+,CD4+/CD8+阳性百分率,及植物血凝素(PHA)诱导前后m IL-2R表达水平。用ELISA法动态检测新生儿及足月正常新生儿出生第1,3,7天血清IL-1β,IL-6,IL-10水平。结果：新生儿H IE患儿生后第1天CD3+,CD4+,CD8+分别为(37.4±6.7)%、(29.4±6.9)%、(16.7±3.3)%,CD4+/CD8+为1.8±0.5,静息期和诱导期m IL-2R表达水平分别为(3.6±1.1)%、(20.9±4.8)%,与正常组相比,差异有显著性(P<0.01~P<0.05)。生后第3天CD3+,CD4+,CD8+分别为(41.0±7.4)%,(35.8±6.9)%,(22.6±4.5)%,CD4+/CD8+为1.7±0.5,静息期m IL-2R表达水平(3.9±1.2)%,与正常组相比,差异有显著性(P<0.05)。生后第7天CD3+,CD4+,CD8+分别为(41.8±6.1)%、(36.4±5.1)%、(25.6±4.3)%,与正常组相比,差异有显著性(P<0.05)。CD4+/CD8+比值为1.5±0.3,诱导期m IL-2R表达水平(23.8±5.2)%,与正常组相比,差异无显著性(P>0.05)。H IE患儿血清IL-1,βIL-6,IL-10水平均显著高于正常组(P<0.05~P<0.01)。结论：H IE患儿存在一定程度的细胞免疫功能紊乱,与疾病的严重程度密切相关,其表达水平可作为H IE早期诊断、评价脑损伤程度及预后的参考指标。[中国当代儿科杂志,2005,7(6):499-502]     

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??Primary immune deficiency??PID?? represents a highly heterogeneous group of disorders from early ages. The clinical manifestations of these diseases were mainly recurrent and severe infections. Because of the difficulty on diagnosis and differential diagnosis and on treatment of recurrent and refractory infections?? most PIDs were intractable cases. Recent advance in the understanding of the immune system have led to the development of novel immunologic assays to aid in the diagnosis of these disorders??and more and more PID patients are diagnosed and have received suitable therapy. In this article??the author reviewed the progress and application of immune functional evaluation in PID??including flow cytometry??FCM????investigating T cell receptor excision circles??TREC????T cell receptor beta-chain variable region??TCRBV?? repertoire diversity.     

反复热性惊厥大鼠海马IL-1β和IL-1ra表达的变化

目的 探讨大鼠反复热性惊厥(FS)后海马白细胞介素-1β(IL-1β)和白细胞介素-1受体拈抗剂(IL-1ra)表达的变化.方法 清洁级21日龄雄性SD大鼠随机分为正常对照组(NC组)、高热对照组(HC组)和热性惊厥组(FS组).末次热水浴后12 h处死动物,用ELISA法检测海马IL-1β和IL-1ra的含量;RT-PCR法测海马IL-1β和IL-1ra mRNA的表达水平.结果 Fs组大鼠海马IL-1β蛋白和IL-1β mRNA水平均明显高于NC组和HC组,差异均具有显著性(P＜0.01和P＜0.05);FS组大鼠海马IL-1ra蛋白及IL-1ra mRNA水平亦明显高于HC组和NC组,差异均具有显著性(P＜0.01和P＜0.05).各组大鼠海马IL-1ra/IL-1β蛋白比值差异无显著性(P＞0.05).结论 短期内反复FS可导致海马IL-1β和IL-1ra表达增加,提示IL-1β和IL-1ra可能参与FS脑损伤发病的病理过程.     

Omenn syndrome in an infant with IL7RA gene mutation

Omenn syndrome (OS) is a rare combined immunodeficiency characterized by erythroderma, lymphadenopathy, and autoimmune manifestations. Most cases are due to mutations in the RAG genes. We report a case of OS due to mutations of IL7RA, thus defining Omenn syndrome as a genetically heterogeneous condition.     

兰州地区回族与汉族儿童维生素D受体基因多态性分布

目的：了解兰州地区回族与汉族儿童维生素D受体(VDR)基因多态性分布,探讨不同种族之间VDR基因型频率的分布。方法：利用限制性内切酶Bsm Ⅰ,采用聚合酶链反应限制性片段长度多态性技术(PCR-RFLP),对兰州地区回族健康儿童81例和汉族健康儿童169例VDR基因多态性进行检测。结果：发现在回族81例中,bb型57例(70.4％),Bb型22例(27.2％),BB型2例(2.5％);在汉族169例中,bb型154例(91.1％),Bb型12例(7.1％),BB型3例(1.8％)。结论：兰州地区回族VDR基因多态性分布与汉族相比存在显著性差异。     

Cutaneous leukocytoclastic vasculitis in a child with interleukin-12 receptor beta-1 deficiency

We report a patient with complete interleukin-12 receptor beta-1 deficiency associated with cutaneous leukocytoclastic vasculitis. The patient experienced Bacille Calmette Guérin, Mycobacterium chelonae, and Salmonella enteritidis infection. Vasculitis affecting both small arteries and postcapillary venules due to deposition of immune complexes was probably caused by S. enteritidis and/or M. chelonae infection.     

维生素D受体在手足口病患儿中的表达及其临床意义

目的:检测维生素D受体(VDR)在手足口病(HFMD)患儿中的表达水平,探索其在HFMD患儿诊治中的潜在价值。方法:选取西安交通大学第二附属医院和西安市儿童医院2017年5月至2019年5月收治住院的HFMD患儿共82例作为病例组,同时随机选取同期儿童保健科体检的健康儿童42例作为对照组,抽取两组儿童外周血,检测并比较...     

Genotype, phenotype, and outcomes of nine patients with T-B+NK+ SCID

There are few reports of clinical presentation, genotype, and HCT outcomes for patients with T-B+NK+ SCID. Between 1981 and 2007, eight of 84 patients with SCID who received and/or were followed after HCT at UCSF had the T-B+NK+ phenotype. One additional patient with T-B+NK+ SCID was identified as the sibling of a patient treated at UCSF. Chart reviews were performed. Molecular analyses of IL7R, IL2RG, JAK3, and the genes encoding the CD3 T-cell receptor components δ (CD3D), ε (CD3E), and ζ (CD3Z) were carried out. IL7R mutations were documented in four patients and CD3D mutations in two others. Three patients had no defects found. Only two of nine patients had an HLA-matched related HCT donor. Both survived, and neither developed GVHD. Five of seven recipients of haploidentical grafts survived. Although the majority of reported cases of T-B+NK+ SCID are caused by defects in IL7R, CD3 complex defects were also found in this series and should be considered when evaluating patients with T-B+NK+ SCID. Additional genes, mutations in which account for T-B+NK+ SCID, remain to be found. Better approaches to early diagnosis and HCT treatment are needed for patients lacking an HLA-matched related donor.     

维生素D、维生素D结合蛋白及维生素D受体和儿童哮喘的关系

越来越多的研究表明,维生素D代谢通路和哮喘发病相关,其机制包括维生素D通路中多个环节异常导致胚胎发育异常及免疫系统的紊乱等。该文主要通过综述维生素D、维生素D结合蛋白、维生素D受体及相关基因多态性和免疫系统之间的关系来阐述哮喘的发病机制及进展。     

Nutrition, anthropometry, gastrointestinal dysfunction, and circulating levels of tumour necrosis factor alpha receptor I and interleukin-1 receptor antagonist in children during stem cell transplantation

Abstract:  To evaluate anthropometry, nutrition and gastrointestinal dysfunction, and to characterize the relation between these parameters and the inflammatory activity evaluated by plasma levels of soluble tumour necrosis factor alpha receptor I (sTNFRI) and interleukin-1 receptor antagonist (IL-1Ra) levels during stem cell transplantation (SCT) in children. Clinical assessments and blood sampling were performed on days −3, 0, +7, +15 and +31 in eight children undergoing SCT. Energy intake, anthropometry, gastrointestinal dysfunction (WHO toxicity score) and sTNFRI and IL-1Ra were evaluated. The energy intake was below recommended levels. There was a loss of lean body mass (arm muscle area)(median, 2031 mm² (day -3) vs 1477 mm² (day 31); p = 0.04), and of fat mass (arm fat area) (791 mm² (day -3) vs 648 mm² (day +31); p = 0.04). sTNFRI was elevated throughout the course of transplantation, and peaked after the day of graft infusion (day 0). sTNFRI levels at day 0 predicted changes in weight SDS (r = 0.65; p = 0.05), triceps skinfold SDS (r = 0.85; p = 0.007) and gastrointestinal dysfunction (r = 0.88; p = 0.004). Likewise, IL-1Ra levels at day 0 correlated with the gastrointestinal dysfunction (r = 0.83; p = 0.01) and with the change in weight SDS (r = 0.77; p = 0.03). This study suggests that pretransplant levels of inflammatory markers are associated with posttransplant symptoms of gastrointestinal dysfunction and loss of both fat and lean body mass. Future studies should adress if the use of conditioning regimens with limited proinflammatory cytokine inducing activity, anti-inflammatory agents, or more optimised nutritional support can reduce the burden of such posttransplant complications.     

Intestinal epithelial cell proliferation is dependent on the site of massive small bowel resection

Early intestinal adaptation after massive small bowel resection (SBR) is driven by increased epithelial cell (EC) proliferation. There is a clear clinical difference in the post-operative course of patients after the loss of proximal (P) compared to distal (D) small bowel. This study examined the effects of the site of SBR on post-resectional intestinal adaptation, and investigated the potential mechanisms involved. C57BL/6J mice (n = 7/group) underwent: (1) 60% P-SBR, (2) 60% D-SBR, (3) 60% mid (M)-SBR and (4) SHAM-operation (transection/reanastomosis). Mice were sacrificed at 7 days after surgery and ECs and adjacent mucosal lymphocytes (IELs) isolated. Adaptation was assessed in both jejunum and ileum by quantification of villus height, crypt depth, villus cell size, crypt cell size (microns), goblet cell number, and EC proliferation (%BrdU incorporation). Proliferation signalling pathways including keratinocyte growth factor (KGF)/KGFR₁, IL-7/IL-7R, and epidermal growth factor receptor (EGFR) were measured by RT-PCR. Expression of IL-7 was further analysed by immunofluorescence. Data were analyzed using ANOVA. All three SBR models led to significant increases in villus height, crypt depth, goblet cell numbers and EC proliferation rate when compared to respective SHAM groups. The strongest morphometric changes were found for jejunal segments after M-SBR and for ileal segments after P-SBR. Furthermore, morphometric analysis showed that at 1-week post-resection a tremendous increase in EC numbers occurred in jejunal villi (cell hyperplasia), whereas a significant increase in EC size predominated in ileal villi (cell hypertrophy). mRNA expression of KGF, KGFR₁, IL-7R, and EGFR showed a significant increase only after D-SBR, whereas IL-7 increased significantly after SBR in all investigated models, and this was confirmed by immunofluorescence studies. Early intestinal adaptation shows distinct differences depending on the site of SBR, and is predominately driven by cell hyperplasia in jejunal villi and cell hypertrophy in ileal villi. However, the exact mechanisms, which guide these signalling pathways are still unclear.