Paraneoplastic pemphigus patients (PNP) develop a group of autoantibodies, among which those against envoplakin and periplakin are almost always found. Epitope mapping has indicated that the linker subdomains of the proteins harbor the major antigenic sites recognized by PNP sera. In order to detect specific autoantibodies for the diagnosis of PNP, we expressed recombinant proteins containing linker subdomains of human periplakin and envoplakin in a human kidney cell line, and used them as the antigens for ELISAs. We found that all of the sera from 16 PNP patients recognized these two recombinant proteins by ELISA, and sera from 20 pemphigus vulgaris (PV), 12 pemphigus foliaceus (PF), 20 bullous pemphigoid (BP), 2 Castleman's tumor without PNP and 20 normal controls showed negative results. We also expressed the extracellular domain of desmoglein 3 (Dsg3) in the cell line, and used this recombinant Dsg3 as the ELISA antigen. Only 11 of our 16 PNP sera were positive, and most PV sera were positive. Our findings indicate that ELISAs using the recombinant proteins containing linker subdomains of envoplakin and periplakin expressed in a human cell line as the antigens are highly sensitive and specific for the diagnosis of PNP.

A 16-year-old female presented with severe mucosal erosion and polymorphous cutaneous eruption, diagnosed as paraneoplastic pemphigus with characteristic histopathology and immunologic features. She was treated with tumor excision after the combination treatment with corticosteroids and plasmapheresis, The histopathology of the biopsy specimens showed Castle-man's disease, hyaline-vascular type. She received plasmapheresis again after the operation and got improvement which was demonstrated by immunologic monitoring.

BACKGROUND:The presence of autoantibodies against multiple epidermal proteins is an important feature in paraneoplastic pemphigus (PNP). Circulating anti-desmoglein 3 autoantibody, the major pathogenic autoantibody in pemphigus vulgaris (PV), has been proved pathogenic in PNP. Because of many clinical differences between PNP and PV, we speculate about the involvement of other autoantibodies in the pathogenesis of PNP. Envoplakin (EPL) and periplakin (PPL) are recognized by most PNP sera. Their linker subdomains are highly homologous and necessary for the association of intermediate filaments.METHODS:We characterized the autoantibodies against the linker subdomains of EPL and PPL in PNP patients' sera and their associated tumors by enzyme-linked immunosorbent assay (ELISA) and immunofluorence. We also applied the purified autoantibodies against EPL and PPL from PNP sera to cultured human epidermal keratinocytes (HEK), to evaluate the changes of cell-cell adhesion.RESULTS:Autoantibodies against EPL and PPL were detected in most PNP patients by ELISA, and the decrease of these autoantibodies after removal of the tumors was roughly comparable to the improvement of clinical symptoms. Cultured tumor cells from PNP patients secreted these autoantibodies. Specific immunoglobulin receptors for EPL and PPL were found on B lymphocytes in tumors from PNP. Furthermore, purified anti-EPL and anti-PPL autoantibodies from PNP sera were capable of dissociating cultured human epidermal keratinocytes.CONCLUSION:Autoantibodies against EPL and PPL may also be pathogenic in PNP.

Background  Hartnup disease is a rare autosomal‐recessive abnormality of renal and gastrointestinal neutral amino acid transport associated with neurologic, psychiatric, and dermatologic symptoms. Mutations in the SLC6A19 gene have been proposed to be responsible for the underlying changes in this disorder.

目的: 研究一Hartnup病家系的氨基酸转运蛋白基因(SLC6A19)的突变.方法: 提取Hartnup病患者及家族成员的基因组DNA,采用聚合酶链反应(PCR)扩增SLC6A19基因所有的外显子,并对PCR产物进行测序序列分析.结果: Hartnup病患者SLC6A19基因存在异常:第6外显子第850位碱基由鸟嘌呤变为腺嘌呤,使第284位氨基酸由甘氨酸(G)转变为精氨酸(R),即G284R错义突变.其弟与患者突变相同.其父母均为G284R突变杂合子.结论: 该Hartnup病家系由氨基酸转运蛋白基因(SLC6A19)的G284R错义突变所致.

副肿瘤性天疱疮(PNP)是一种罕见的自身免疫性大疱性皮肤病,其特点是具有严重的黏膜糜烂和多形性皮损,体内常并发淋巴细胞增生性肿瘤.

目的 鉴定-Hallopeau-Siemens型常染色体隐性遗传真皮型大疱性表皮松解症家系的基因突变,为进一步开展产前诊断奠定基础.方法 提取患者及其父母的基因组DNA,应用聚合酶链反应、DNA直接测序明确突变位点,并使用限制性片段长度多态性分析进一步确定该家系的致病原因.结果 发现患者COL7A1基因存在2个突变:①第12号外显子上第4326位碱基由胞嘧啶突变为胸腺嘧啶,使第525位氨基酸由精氨酸(G)突变为终止密码(R525X);②第105号外显子上第27716位碱基由胞嘧啶突变为胸腺嘧啶,使第2510位氨基酸由精氨酸(G)突变为终止密码(R2510X).其母为R525X突变杂合子,其父为R2510X突变杂合子.结论 COL7A1基因的R525X无义突变和R2510X无义突变是引起该患者临床症状的特异突变。

单纯疱疹病毒2型感染主要引起生殖器疱疹.感染后宿主对其产生的免疫应答的机制尚不清楚.近年来单纯疱疹病毒2型与宿主淋巴细胞作用的研究有了一定的进展.综述了单纯疱疹病毒2型感染和B细胞、T细胞及天然杀伤细胞的关系;同时还对单纯疱疹病毒2型感染中淋巴细胞间的相互作用及淋巴细胞与其他细胞间的相互作用进行了综述.

Objective To study the IL-6 secretion by murine DC2.4 and RAW 264.7 cell before and after treatments with HSV-2 plus /or lipopolysaccharide(LPS).Methods ELISA was used to assess the IL-6 contents when DC2.4 and RAW 264.7 cell were infected with HSV-2 plus/of LPS.ResuITS HSV-2 increase the IL-6 secretion of both the cells and has no the ability to inhibit the LPS-induced interleukin-6 secretion Conclusions HSV-2 increased the IL-6 secretion of DC2.4、RAW264.7,favorating Th_2-type immune reponses.It may be one way escapting the immune responses of the hosts.

Objective To study the effects of HSV-2 on viability, morphology and the IL-12 secretion of murine DC.Methods Inverted microscope was used to observe the effects of HSV-2 on the morphology of DC. The cells were then assessed for viability by the trypan blue exclusion method. ELISA was used to assess the IL-12 contents when DC were infected with HSV-2 plus/or LPS.Results After HSV-2 infection,the dendrites of murine DC contract , become round and the cell interval increases. The survival rate of DC was decreased to 79.73 % after 3d and only 31.53% after 7d,which are lower than control groups(P0.05). HSV-2 significantly impaired the ability of LPS-induced DC interleukin-12 secretion(P0.05).Conclusion With HSV-2 infection,DC dendrites contract,the survival rate is reduced and the ability of secreting IL-12 is damaged,it is unfavorable to the immunity to HSV-2.