小儿免疫及原发性免疫缺陷病

070678原发性免疫缺陷病诊治进展/蒋利萍∥实用儿科临床杂志.-2006,21(21).-1443~1444070679原发性抗体缺陷病的诊断和治疗/王晓川∥实用儿科临床杂志.-2006,21(21).-1516~1517070680自身抗体检测在儿童自身免疫性疾病中的意义/章迁…∥实用儿科临床杂志.-2006,21(21).-1470~1471,1493对住院患儿中抗核抗体(ANA)、抗可溶性抗原(ENA),或抗双链DNA(ds-DNA)抗体至少1项阳性者共135例进行总结,分别计算其阳性预测值(PV)。结果:ANA阳性中自身免疫性疾病的PV=0.36,ANA荧光强度与PV成正比,ANA荧光分型中细颗粒型对于SLE有较高的PV;抗…     

伴有抗核抗体阳性的儿童特发性血小板减少性紫癜的临床观察

特发性血小板减少性紫癜（ITP）属自身免疫性血细胞减少性疾病的一种,多由于感染等因素引起自身免疫紊乱,产生针对血小板的抗体,导致血小板在单核-巨噬细胞系统被破坏,巨核细胞成熟不良。部分ITP患儿存在其它自身抗体如抗核抗体（ANA）阳性。本文旨在探讨伴有抗核抗体阳性的特发性血小板减少性紫癜的临床特征。     

抗核小体抗体检测在儿童系统性红斑狼疮诊断价值中的研究

儿童系统性红斑狼疮（SLE）是儿科常见的自身免疫性疾病,患儿体内产生多种自身抗体,导致多系统、多器官损伤。目前儿童SLE诊断的血清学指标以抗核抗体（ANA）、抗双链DNA抗体（抗dsDNA抗体）和抗Sm抗体为主,但这些抗体的敏感度和特异度差异较大,临床上常可以见到抗dsDNA抗体和抗Sm抗体阴性的SLE患儿。最近研究发现,在抗dsDNA抗体阴性的成人SLE患者中可以检出抗核小体抗体（AnuA）,对成人SLE诊断和疾病监测有重要意义。本研究旨在探讨AnuA检测对儿童SLE的诊断价值,并与成人SLE患者进行比较。[第一段]     

致密细斑点型抗核抗体在儿童自身免疫性疾病中的临床应用

目的分析致密细斑点型抗核抗体(DFS)阳性患儿的临床特点及实验室检查指标差异, 探讨DFS阳性在儿童免疫性疾病诊断中的价值。方法回顾性分析2017年8月至2020年2月9 613例行抗核抗体(ANA)常规检测的儿童, 其中197例DFS阳性, 根据临床诊断分为自身免疫性疾病(AID)组(39例)和非AID组(158例), 同期体检健康儿童作为健康对照组(40例)。采用t检验比较AID组与非AID组体液免疫等临床指标的检出差异, 并比较DFS阳性病例在不同临床科室分布、首发症状、累及部位等差异。结果 9 613例儿童行自身抗体检测, ANA阳性2 654例(27.61%), 其中斑点型检出最高, DFS阳性197例, 在ANA阳性儿童中占7.42%;97例DFS阳性男童占ANA阳性男童的8.20%(97/1 183例);100例DFS阳性女童占ANA阳性女童的6.80%(100/1 471例), 男女阳性检出率差异无统计学意义;ANA检出阳性占比较高科室为肾脏科(27.88%)、风湿免疫科(24.83%);而DFS阳性患儿检出率较高的科室为消化科(13.25%)、感染科(11.76%)。...     

抗心磷脂抗体的研究进展

抗心磷脂抗体（ａｎｔｉｃａｒｄｉｏｌｉｐｉｎ ａｎｔｉｂｏｄｉｅｓ，ＡＣＡ）是与心磷脂分子中带负电荷的磷酸二酯基团结合的一种自身抗体，在多种自身免疫性疾病中具有阳性意义，本文就ＡＣＡ的性质、与血栓形成、血小板减少、神经系统病变、心血管疾病及胎儿死亡的关系及其发病机制、ＡＣＡ阳性的治疗等方面进展做一综述。     

幼年型皮肌炎特异性抗体研究进展

幼年型皮肌炎（juvenile dermatomyositis，JDM）是以近端肌无力和皮疹为主要临床表现的自身免疫疾病，亦可累及多系统、多脏器。肌炎特异性抗体（myositis-specific autoantibodies，MSA）与JDM患者的并发症及预后高度相关。抗Mi-2抗体阳性患者预后较好，临床症状典型；抗MDA5抗体阳性患者多伴发弥漫性间质性肺疾病及皮肤溃疡，肌炎症状轻；抗NXP2抗体阳性患者易合并钙质沉着，该抗体与胃肠出血及穿孔相关；抗TIF1-γ抗体阳性患者有弥漫、顽固的皮损表现；抗SAE抗体在儿童中检出率较低，相关报道较少。该文综述了5种MSA亚型JDM患者的临床表型特点，为JDM患儿的临床治疗和随访管理提供依据。     

抗内皮细胞抗体与系统性血管炎关系的研究进展

抗内皮细胞抗体（AECA）是一组与内皮细胞多种蛋白相结合的异质性自身免疫性抗体,于1971年由Lindquist和Osterland首次报道。此后越来越多的研究表明,其广泛出现在由免疫、炎症介导的血管壁损伤相关的多种自身免疫性疾病中,尤其在系统性血管炎中,具有潜在的致病作用,并且对相关自身免疫性疾病的诊断及其预后判断有一定的作用。文章就近年来对AECA及其与系统性血管炎密切相关性的研究进展作一综述。     

风湿病及结缔组织病

932138血清抗EVA抗体在儿童风湿性疾病中的意义/陈燕…//实用儿科临床杂志一1993,8(2)一82一83 对56例结缔组织病患儿常规进行抗核抗体(ANA)及抗DNA抗体测定,随机取样进行抗ENA抗体分析.结果:抗ENA抗体仅特异性存在儿童系统性红斑狼疮(SLE)及混合结缔组织病(MCTD)病人血清中,SLE阳性例数24/31例,MCTD为2/2例,余均阴性.在抗ENA抗体阳性的SLE病例中,抗Sm、RNP屯ssA、SSB抗体阳性率分别为87.5%,62.5%,65%和65%。血清抗ENA抗体的滴度,与ANA滴度不一致,而与荧光抗核抗体(FANA)的图型有关。出现狼疮脑炎的患儿,FANA滴度与…     

免疫性血小板减少症299例自身抗体表达及预后影响因素分析

目的 分析免疫性血小板减少症（ITP）患儿自身抗体表达特点及预后影响因素。方法 回顾性分析2020年9月—2021年9月住院的初诊ITP患儿的临床资料。结果 纳入299例ITP患儿,男171例、女128例,中位年龄2.7(1.0～4.6)岁。完成自身抗体谱检测的296例ITP患儿中,自身抗体谱表达阳性114例（38.5%）,其中抗核抗体阳性101例（88.6%）,抗SSA/RO 52 KD抗体阳性59例（51.8%）,抗SSA/RO 60 KD抗体阳性52例（45.6%）。299例ITP患儿中205例治愈。与治愈组相比,未治愈组年龄≥1岁,抗核抗体、抗SSA/RO 52 KD抗体、抗SSA/RO 60 KD抗体阳性以及出血评分≥3分的比例较高,前驱感染和单用丙种球蛋白的比例较低,差异有统计学意义（P<0.05）。二分类logistics回归分析结果显示年龄≥1岁,抗核抗体阳性,出血评分≥3分是影响ITP预后的独立危险因素（P<0.05）,有前驱感染史是影响ITP预后的独立保护因素（P<0.05）。结论 ITP患儿自身抗体谱抗体表达常见。年龄、前驱感染史、抗核抗体及出血...     

抗中心体抗体在儿童病原感染及自身免疫性疾病中的临床意义

目的初步了解抗中心体抗体(ACA)在儿童病原感染及自身免疫性疾病中的临床意义。方法收集广州市儿童医院2009年4月至9月19例ACA检测阳性患儿为ACA阳性组、42例ACA阴性为阴性对照组,选取同期常见病原微生物感染及正常儿童为阳性对照组和正常对照组。对4组病原微生物感染指标和其他自身抗体及炎症相关蛋白资料进行统计学分析。结果 ACA阳性存在于自身免疫相关疾病如系统性红斑狼疮(SLE)等16例次(84.2%);感染因素相关疾病7例次(36.8%)。ACA阳性组与阴性对照组间病原微生物感染指标差异无统计学意义(P>0.05);两组间ANA阳性率差异有统计学意义(P<0.001)。阳性对照组、正常对照组与ACA阳性组间病原微生物感染指标差异无统计学意义(P>0.05)。结论儿童ACA常见于免疫性疾病如SLE、川崎病,与机体亢进的自身免疫状态有关,而与以往报道的MP、CP、HSV等病原微生物感染无直接关系。     

Persistent antinuclear antibodies in children without identifiable inflammatory rheumatic or autoimmune disease.

One hundred eight children with musculoskeletal pain considered not to be due to an autoimmune or inflammatory disease had an antinuclear antibody (ANA) test performed. Twenty-four of these children were ANA positive on HEp-2 cell substrate at a screening serum dilution of 1:20. A positive ANA test persisted in 21 of 24 of the patients over a mean time period of 38 months (range 1 to 103 months). No sera from any patient at initial evaluation had anti-DNA antibodies by radioimmunoassay or by indirect immunofluorescence on Crithidia luciliae. One patient recently developed elevated anti-DNA (radioimmunoassay) antibodies but still has a negative assay on C luciliae. Four patients had antibodies to core histones by immunoblotting. None had antibodies to Sm, RNP, Ro (SS-A), or La (SS-B) by counterimmunoelectrophoresis. No patient developed an overt inflammatory or autoimmune disease during a mean follow-up period of 61 months (range 13 to 138 months). A child with musculoskeletal pain and a positive test for ANA, but with no clinical evidence at presentation of inflammatory or autoimmune disease, is at low risk of imminently developing such a disease.     

Significance of a positive antinuclear antibody test in a pediatric population

Clinical and laboratory findings in 138 children seen during a ten-year period with a positive antinuclear antibody (ANA) test were reviewed. Two thirds (91 of 138) of the patients had specific autoimmune or rheumatic diseases, including systemic lupus erythematosus (n = 37), juvenile rheumatoid arthritis (n = 33), Sj?gren's syndrome (n = 9), mixed connective tissue disease (n = 7), dermatomyositis (n = 3), and discoid lupus (n = 2). Another 27 patients had symptoms of autoimmune disease but did not fit criteria for specific disorders. Nine patients with IgA deficiency had a positive ANA test but did not have symptomatic autoimmune disease. Ten children had a positive ANA test in association with infections, mainly viral, and one had leukemia. Because most children with a positive ANA test had readily diagnosable autoimmune disorders, pediatric patients with a positive ANA on repeated testing should undergo clinical and laboratory studies for autoimmune or rheumatic disease.     

不同底物间接免疫荧光法检测细胞膜DNA抗体在儿童系统性红斑狼疮的临床价值研究

目的：比较两种细胞株为底物间接免疫荧光法( indirect immunofluorescence assay,IIF)检测细胞膜DNA( cell membrane DNA,cmDNA)抗体在儿童系统性红斑狼疮( juvenile systemic lupus erythema-tosus,JSLE)中的检测效果。评价cmDNA抗体单独及与核小体抗体( anti-nucleosome antibody,AnuA)、史密斯( Smith,Sm)抗体和双链DNA( double-stranded DNA,dsDNA)抗体联合检测对JSLE的诊断价值;探讨cmDNA抗体与临床特点的相关性。方法选取92例JSLE为研究对象,71例非JSLE风湿病患儿为对照组。留血清采用IIF分别观察培养的人B细胞株Raji、人早幼粒白血病细胞株HL60细胞膜的荧光图形;同时用IIF检测抗核抗体( antinuclear antibody,ANA);联合酶联免疫吸附法( enzyme-linked immuno sorbent assay,ELISA)和IIF检测dsDNA抗体;联合应用免疫双扩散法和免疫印迹法检测Sm抗体、ELISA法测定AnuA,收集同期临床资料。结果以两种细胞株为底物检测JSLE患儿血清cmDNA抗体,发现Raji细胞株较HL60细胞株更易复苏、荧光图形亮度更强,表达效果更好。 cmDNA抗体在JSLE组较对照组有更高的阳性率。以Raji细胞株为底物检测cmDNA抗体,cmDNA抗体的敏感性明显高于Sm抗体及dsDNA抗体(P<0．01),特异性与dsDNA抗体相似(P>0．05),但低于Sm抗体及AnuA(P<0．01)。 cmDNA抗体分别与dsDNA抗体、Sm抗体及AnuA联合检测在SLE诊断中的敏感性均明显高于单独检测( P<0．05)。cmDNA抗体与SLE疾病活动度评分无相关性( P=0．907)。结论 cmDNA抗体对儿童SLE诊断的敏感性高,特异性强,可能成为儿童SLE诊断的相对特异性抗体之一。 cmDNA抗体与dsDNA抗体、Sm抗体及AnuA联合检测可提高对儿童SLE诊断的敏感性。选择Raji细胞株为底物检测cmDNA抗体较HL60细胞株更有优势。     

Frequency of antinuclear antibodies in healthy children and adolescents

Sera from 214 healthy children and adolescents (108 females [50.4%]) aged 6 months to 20 years (mean 8.7 years) and from 116 patients with rheumatic diseases were assayed for antinuclear antibody (ANA) by indirect immunofluorescence (IIF) by using HEp-2 cells as substrate. Twenty-seven healthy children (12.6%) presented a positive ANA test; there was no difference between genders, and we observed a trend for higher frequency of ANA >/= 1/80 among children between 5 years and 10 years. Eight of the 27 healthy children with positive ANA test were reevaluated 36 months later, and none of them had developed any rheumatic disease, though the sera remained positive in 2 of them. ANA was present in 42/116 patients (36.2%). In daily medical practice ANA determination should be required only in individuals with clinical signs and symptoms suggestive of autoimmune disease.     

新生儿红斑狼疮12例临床特征和远期随访

目的 探讨新生儿红斑狼疮(Neonatal lupus erythematosus NLE)的发病机制、血清学改变、临床特征及远期预后。方法 确定NLE的条件：① 新生儿先天性心脏传导阻滞和新生儿或母亲的抗SSA/Ro、抗SSB/La抗体阳性;② 确定的和NLE相关的皮肤损害和新生儿或母亲的抗-Ro/SSA, 抗-La/SSB,或 抗-U1RNP抗体阳性。总结分析12例NLE患儿和母亲的临床表现,检测母亲和患儿的自身抗体,进行长期随访。并进行文献复习。结果 12例NLE , 男7例, 女5例, 就诊年龄1个月～5个月,起病年龄生后1d ～2个月,皮肤损害12例,血液学改变11例,肝脏受损6例,心脏受损4例,抗核抗体阳性12例,抗SSA/Ro抗 体阳性12例,抗SSB/La抗体阳性5例,抗ds-DNA抗体阳性4例,抗ENA抗体阳性4例,血沉增快6 例,血清丙氨酸转氨酶增高6例。12例母亲中孕前11例无症状,1例日光性皮炎;孕3～5个月时7例母亲出现日光性皮炎;2例发热、脱发、全血细胞减少;产后1个月 2例母亲出现皮疹、脱发;抗核抗体阳性12例,抗SSA/Ro抗体阳性12例,抗 SSB/La抗体阳性 5例,抗ds-DNA抗体阳性4例,抗ENA抗体阳性4例;血沉增快5例。12例NLE中11例随访18个月～12年,心电图完全右束支传导阻滞1例死亡。11例皮疹于3~11个月龄消退,自身抗体于6~12个月龄转阴,血液学改变、肝脏损害恢复正常,智力发育同正常同龄儿。1例3岁确诊为幼年特发性关节炎少关节炎型,1例12岁时出现反复颜面红斑皮疹,ANA阳性1：320,抗ds-DNA抗体阴性。12 例母亲中10例确诊为SLE,2例确诊为SS。结论 NLE是获得性的自身免疫疾病,临床表现主要有短暂性皮肤狼疮损害、先天性心脏传导阻滞、血细胞减少、黄疸、肝功能损伤等,肾脏受损少见。抗Ro (特别是抗-52KD SSA/Ro) 或抗-La抗体阳性的母亲是NLE的危险因素。NLE患儿需要长期随访,这些患儿存在到儿童期发展为其他自身免疫病的危险。     

Relationship of maternal autoimmune response to clinical manifestations in children with congenital complete heart block

OBJECTIVE: To study the autoimmune response in mothers of children with congenital heart block (CHB) diagnosed at different ages and with different clinical manifestations. PATIENTS AND METHODS: Clinical data and sera for the determination of immunological tests were available from 104 mothers of 113 children born between 1950 and 2000 and diagnosed with CHB before the age of 16 y. Prenatal diagnosis was performed in 74 (65%) children of 65 mothers, and 39 (35%) children had postnatal diagnosis of CHB. Maternal antibodies to 52 kd and 60 kd SS-A, and to 48 kd SS-B were determined by time-resolved fluoroimmunoassay (TR-FIA) and to antinuclear antibodies (ANA) by immunoflurescense (IF). RESULTS: Out of the 65 mothers of children with in utero diagnosed CHB, 88% had antibodies to 52 kd SS-A and 83% had ANA. Antibodies to 60 kd SS-A and 48 kd SS-B were less frequently present, in 48% and in 54% of the mothers, respectively. Seven (11%) of the mothers were negative by all immunoassays. Of the 13 mothers of children with in-infancy diagnosed CHB, one mother had high-titer ANA. After 1 y of age, CHB was diagnosed in 26 children; at 1 to 6 y in 16 and after 7 y in 10 children; 1/16 and 1/10 patients had positive antibodies. In all twin pregnancies (n = 4) and in all families with recurring cases of CHB (n = 5), maternal antibodies were positive in at least one assay. The titer of 48 kd anti-SS-B antibodies was significantly higher in children with cutaneous neonatal lupus (98.1 vs 41.0; p = 0.02). All mothers whose children died before the age of 4 y (n = 8) and 85% (11/13) of mothers whose children developed cardiomyopathy had elevated antibody titers in at least one assay. However, we could not find any prognostic value of maternal antibody levels or specificities on the clinical outcome of the children with CHB. CONCLUSIONS: Although rare, late detection or postnatal progression of CHB in antibody-mediated CHB should be taken into consideration. Maternal antibody levels or specificities have prognostic effect neither on the clinical outcome of the child with CHB nor on the risk of reappearance in the same family.     

Systemic lupus erythematosus presenting with pseudotumor cerebri: a rare association

We describe a 13-year-old systemic lupus erythematous (SLE) patient who presented with severe headache. The diagnosis of pseudotumor cerebri (PTC) was confirmed by an increased intracranial pressure and normal neuroimaging studies of the brain, including magnetic resonance (MR) venography. She later developed a Coombs positive anemia, lymphopenia, positive tests for antinuclear antibody (ANA) and anti-dsDNA and a migratory polyarthritis confirming the diagnosis of SLE. IgM type anticardiolipin antibodies were positive in low titer. Since she did not have a demonstrable thromboembolic phenomenon in neuroimaging studies, a diagnosis of antiphospholipid antibody syndrome could not be made and anticoagulant treatment was not given. Treatment with pulse i.v. methylprednisolone followed by oral treatment along with azathioprine produced a rapid and dramatic resolution of the clinical symptoms. PTC may also be a neurological manifestation of childhood SLE and should be considered in the differential diagnosis. We suggest that pulse steroids and azathioprine is an effective treatment for this feature.     

A study of specificities of antinuclear antibodies in juvenile rheumatoid arthritis.

The sera from 77 children with juvenile rheumatoid arthritis were studied for the presence of antinuclear antibodies, rheumatoid factor, and for antibodies to seven well-characterized nuclear antigens which occur in specific rheumatic diseases of adults. These included: Sm, RNP, DNA, RNA, RAP, SS-A, and SS-B. Forty-nine percent of the sera from patients with JRA contained ANA. The most common pattern was speckled. The frequency of all other positive tests was too low (13%) to make correlations with disease states. However, a small group of girls with polyarticular and late-onset disease had a high incidence of RF or RAP. These two antibodies were not associated with each other as they are in adult RA.     

Development of autoantibodies after pediatric liver transplantation

Dn‐AIH is a long‐term complication after LT. The aim of this study was to analyze the occurrence of autoantibodies in pediatric recipients and the clinical significance. From 1992 to 2008, 96 pediatric LT for non‐autoimmune liver diseases were performed in 94 children in our institution. Serum autoantibodies were checked in 68 subjects (73.9%). A positive autoantibody was defined as titers ≥1:40 for ANA, or ≥1:20 for ASMA, anti‐LKM, and AMA. Autoantibodies were detectable in 51 of 68 patients (75.0%). There was positivity for ANA in 30 patients, ASMA in 32, and AMA in three, while anti‐LKM was all negative. Immunosuppressive treatment with CsA, more than one episode of rejection, and abnormal ALT were risk factors for the development of autoantibodies. The incidence of the development of autoantibodies was 75.0% in pediatric LT cases in this study. ASMA was the most commonly found autoantibody. Autoantibodies may not play a sentinel role for dn‐AIH after LT.     

Frequency of antinuclear antibodies and rheumatoid factor in healthy Turkish children

The frequency of antinuclear antibodies (ANA) and rheumatoid factor (RF) was investigated in 118 apparently healthy children (56 male, 62 female). The mean age was 9.8+/-2.3 years. Antinuclear antibodies (ANA) were detected by indirect immunofluorescence, using a Hep-2 cell substrate. Nephelometry was used to quantify RF in 116 children. Five serum samples (4%, 3M, 2F) were ANA-positive in low titers and all had a speckled pattern. None of the ANA-positive children had other extractable antinuclear antibodies. Rheumatoid factor (RF) was over 25 IU/ml in four children (3%, 3F, 1M). None of these was positive for both antibodies. Our results suggest a similar frequency of ANA in healthy Turkish children even with a Hep-2 cell substrate, when compared to results of other reports. On the other hand, RF was more frequent than in other reported series.