高IgE综合征(hyper-immunoglobulin E syndrome,HIES)是临床少见的以免疫和结缔组织紊乱为特点的原发性遗传免疫缺陷病,临床表现主要为慢性湿疹样皮炎,伴血清IgE水平及嗜酸粒细胞计数的持续升高、严重反复的细菌或病毒感染、骨骼发育异...高IgE综合征(hyper-immunoglobulin E syndrome,HIES)是临床少见的以免疫和结缔组织紊乱为特点的原发性遗传免疫缺陷病,临床表现主要为慢性湿疹样皮炎,伴血清IgE水平及嗜酸粒细胞计数的持续升高、严重反复的细菌或病毒感染、骨骼发育异常等表现,部分患者早期有并发恶性肿瘤的可能。HIES属于少见病,临床医师对本病的认识不足,而特应性皮炎(atopic dermatitis,AD)和HIES的主要临床表现、实验室检查结果等有很多相似,HIES容易被漏诊或误诊为AD。该文通过归纳分析高IgE综合征的临床表现和实验室检查指标特征,比较与AD的异同,可提高临床医生对HIES的认识以及对这两种疾病的鉴别诊断能力。展开更多
目的探讨X连锁高IgM综合征(X-linkedhyper-immunoglobulin M syndromes,XHICM)的临床特征及基因型的特点。方法 2017年7月16日,山东省立医院儿科收治1例反复粒细胞减少的患儿,分析其临床特点、实验室检查和治疗经过。利用二代测序对患...目的探讨X连锁高IgM综合征(X-linkedhyper-immunoglobulin M syndromes,XHICM)的临床特征及基因型的特点。方法 2017年7月16日,山东省立医院儿科收治1例反复粒细胞减少的患儿,分析其临床特点、实验室检查和治疗经过。利用二代测序对患儿行基因检测,并用Sanger测序对患儿及父母的基因突变进行验证。结果患儿男,2岁8个月。曾于2岁2个月时因重症肺炎住院,出院后反复出现粒细胞减低,骨髓穿刺检查提示粒细胞缺乏症。本次入院检查结果显示,IgG、IgA和IgE明显降低,IgM处于正常高值。基因检测结果显示,患儿CD40LG基因第5外显子有1个半合子突变:c.76IC>G(编码区第761号核苷酸由胞嘧啶变异为鸟嘌呤),导致氨基酸改变p.T254R (第254号氨基酸由苏氨酸变异为精氨酸),为错义突变。该变异不属于多态性位点,在人群中发生频率极低,在HGMD专业版数据库中未见报道。进一步家系验证分析显示,患儿母亲该位点杂合变异,该位点为疑似致病性变异,为X连锁隐性遗传,变异来源于母亲。基因诊断明确后,每间隔1～2个月输注人免疫球蛋白,每次7.5 g。出院后随访8个月,共输注4次,期间偶有感冒,未再患肺炎。结论反复中性粒细胞减少的婴幼儿应早期行免疫功能筛查,加强对原发性免疫缺陷病的识别。基因检测是诊断XHIGM的金标准。展开更多
Hyper-immunoglobulin M syndrome is an X-linked primary immunodeficiency disease caused by mutations in the CD40 ligand gene.The CD40 ligand has been recently highlighted as playing a key role in the pathogenesis of pr...Hyper-immunoglobulin M syndrome is an X-linked primary immunodeficiency disease caused by mutations in the CD40 ligand gene.The CD40 ligand has been recently highlighted as playing a key role in the pathogenesis of primary biliary cholangitis.In the present study,we assessed an extensive set of serum autoantibodies in a series of well-defined patients with hyper-immunoglobulin M syndrome.Serum,liver-related and liver-not-related autoantibodies IgG,IgM and IgA were tested by ELISA and standard indirect immunofluorescence in HEp-2 cells in 13 Tunisian patients(8 males and 5 females,aged 1–12 years)with hyper-immunoglobulin M syndrome during 1995–2012 and,as controls,21 age-and gender-matched blood donors.The level of IgM antibody against MIT3 was significantly higher in patients than in controls(35.8 vs 10.7,P=0.002).Half of the hyperimmunoglobulin M syndrome patients were found to be anti-MIT3 IgM positive vs none of the controls(Po0.0001).Twenty-three percent of patients were found to be anti-sp100 antibody positive vs only 0.05%of controls.By immunofluorescence,92.3%of patients were MIT3 IgM positive vs none of the controls.In conclusion,the IgM class of anti-MIT3 antibodies was shown to be present by both ELISA and immunofluorescence in most of the patients with hyper-immunoglobulin M syndrome.The presence of the hallmark of primary biliary cholangitis,a disease where the CD40 ligand is a key player,in an immunodeficiency disease caused by mutations in the CD40 ligand gene is very intriguing and opens new scenarios in understanding the immune pathogenesis of primary biliary cholangitis.展开更多
文摘高IgE综合征(hyper-immunoglobulin E syndrome,HIES)是临床少见的以免疫和结缔组织紊乱为特点的原发性遗传免疫缺陷病,临床表现主要为慢性湿疹样皮炎,伴血清IgE水平及嗜酸粒细胞计数的持续升高、严重反复的细菌或病毒感染、骨骼发育异常等表现,部分患者早期有并发恶性肿瘤的可能。HIES属于少见病,临床医师对本病的认识不足,而特应性皮炎(atopic dermatitis,AD)和HIES的主要临床表现、实验室检查结果等有很多相似,HIES容易被漏诊或误诊为AD。该文通过归纳分析高IgE综合征的临床表现和实验室检查指标特征,比较与AD的异同,可提高临床医生对HIES的认识以及对这两种疾病的鉴别诊断能力。
文摘Hyper-immunoglobulin M syndrome is an X-linked primary immunodeficiency disease caused by mutations in the CD40 ligand gene.The CD40 ligand has been recently highlighted as playing a key role in the pathogenesis of primary biliary cholangitis.In the present study,we assessed an extensive set of serum autoantibodies in a series of well-defined patients with hyper-immunoglobulin M syndrome.Serum,liver-related and liver-not-related autoantibodies IgG,IgM and IgA were tested by ELISA and standard indirect immunofluorescence in HEp-2 cells in 13 Tunisian patients(8 males and 5 females,aged 1–12 years)with hyper-immunoglobulin M syndrome during 1995–2012 and,as controls,21 age-and gender-matched blood donors.The level of IgM antibody against MIT3 was significantly higher in patients than in controls(35.8 vs 10.7,P=0.002).Half of the hyperimmunoglobulin M syndrome patients were found to be anti-MIT3 IgM positive vs none of the controls(Po0.0001).Twenty-three percent of patients were found to be anti-sp100 antibody positive vs only 0.05%of controls.By immunofluorescence,92.3%of patients were MIT3 IgM positive vs none of the controls.In conclusion,the IgM class of anti-MIT3 antibodies was shown to be present by both ELISA and immunofluorescence in most of the patients with hyper-immunoglobulin M syndrome.The presence of the hallmark of primary biliary cholangitis,a disease where the CD40 ligand is a key player,in an immunodeficiency disease caused by mutations in the CD40 ligand gene is very intriguing and opens new scenarios in understanding the immune pathogenesis of primary biliary cholangitis.
