Immunological Medicine最新文献

{"title":"Rapid response of eculizumab: a rescue therapy for ventilator-dependent refractory myasthenic crisis.","authors":"Yohei Takenobu, Kazutoshi Ikeda, Sachiko Hasebe, Noriko Nomura, Shunsuke Tamaki, Kayoko Yukawa, Junichi Miyahara, Kentaro Yamakawa, Manabu Inoue","doi":"10.1080/25785826.2025.2500698","DOIUrl":"https://doi.org/10.1080/25785826.2025.2500698","url":null,"abstract":"<p><p>Myasthenic crisis (MC) represents the most severe and life-threatening complication of myasthenia gravis (MG). Some patients exhibit refractory responses to conventional immunotherapies, including intravenous immunoglobulin and plasma exchange. This report describes a patient with MC refractory to repetitive high-dose steroids and intravenous immunoglobulin, requiring ventilator support. Within 2 days of eculizumab administration, significant improvement enabled ventilator discontinuation. Subsequent doses further ameliorated limb and pharyngeal weakness, leading to independence. A literature review that identified ten cases reported across five publications highlighted the favorable outcomes achieved with eculizumab in refractory MC, while concomitant respiratory infection was shown to complicate the recovery from MG-related respiratory failure. Although the randomized controlled trials have excluded MC cases, eculizumab has emerged as a promising option for rescue therapy in refractory MC. Larger studies that specifically include MC cases are warranted.</p>","PeriodicalId":37286,"journal":{"name":"Immunological Medicine","volume":" ","pages":"1-6"},"PeriodicalIF":2.7,"publicationDate":"2025-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144052695","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Causal association of immune-related genes with mouth ulcers: findings from summary-based Mendelian randomization and transcriptome-wide association analysis.","authors":"Mengru Shi, Tianqi Wang, Qi Xie, Guangwei Yuan, Juan Xia, Jingyun Yang, Weili Xie, Zetao Chen, Xiaobing Chen","doi":"10.1080/25785826.2025.2498106","DOIUrl":"https://doi.org/10.1080/25785826.2025.2498106","url":null,"abstract":"<p><p>Oral ulceration is the most common ulcerative condition in humans, yet its underlying etiology remains poorly understood. To identify potential causal genes involved in the pathogenesis of mouth ulcers, we applied summary data-based Mendelian randomization (SMR) using eQTL data from GTEx and CAGE, along with a transcriptome-wide association study (TWAS). The SMR analysis of GTEx data identified 41 significant probes, with <i>LRRC37A4P</i>, <i>RP11-707O23.5</i>, and <i>RP11-259G18.3</i> standing out. In parallel, the CAGE SMR identified 67 probes corresponding to 58 genes, including <i>CCR2</i>, <i>MGC57346</i>, and <i>C17orf69</i>. TWAS further identified 181 significant genes, with 37 overlapping with GTEx SMR findings and 27 with CAGE SMR findings. Functional enrichment analysis revealed a strong involvement of immune-related pathways, especially those involving <i>HLA-DRB1</i> and <i>CCR2</i>. Differential expression analysis reinforced the relevance of <i>IL12RB1</i> and <i>HLA-DRB1</i>, which were consistently significant across both SMR and TWAS analyses. Collectively, these findings underscore the importance of immune-regulatory genes, particularly members of the CCR gene family and the HLA complex, in the genetic architecture of mouth ulcers. This integrative approach provides insights into potential therapeutic targets and advances our understanding of the genetic basis underlying this prevalent condition.</p>","PeriodicalId":37286,"journal":{"name":"Immunological Medicine","volume":" ","pages":"1-11"},"PeriodicalIF":2.7,"publicationDate":"2025-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143989780","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Bibliometric analysis of systemic lupus erythematosus during pregnancy from 2003 to 2024.","authors":"Xinyan Zou, Xinfu Zou, Qiaoqiao Liu, Bingxin Zhou, Shujie He, Xiulan Liao, Hanqing Zhao","doi":"10.1080/25785826.2025.2483811","DOIUrl":"https://doi.org/10.1080/25785826.2025.2483811","url":null,"abstract":"<p><p>Autoimmune diseases such as systemic lupus erythematosus (SLE) and antiphospholipid antibody syndrome have a significant impact on pregnancy, potentially exacerbating SLE symptoms and leading to miscarriage, pre-eclampsia and other pregnancy complications. To ensure the safety of SLE patients during pregnancy, experts have conducted in-depth research and provided recommendations. Therefore, it is necessary to provide a thorough summary of the current status, hotspots and emerging trends in this research field. We systematically searched the Web of Science Core Collection database for studies on SLE during pregnancy from 1 January 2003 to 24 March 2024. We then utilized CiteSpace to generate a knowledge visualization map. This analysis included a total of 2239 studies on SLE during pregnancy. The yearly volume of publications exhibits a persistent increasing trend. The United States had the highest number of publications and was the leading country, while the Czech Republic had the highest centrality and influence. The research focused on three main areas: (1) pregnancy outcomes in autoimmune diseases, (2) newborn-related diseases and complications and (3) medication management for patients with SLE during pregnancy. Our study offers both a visual and scientific synopsis of research concerning SLE during pregnancy, furnishing valuable insights and opening up new avenues for researchers.</p>","PeriodicalId":37286,"journal":{"name":"Immunological Medicine","volume":" ","pages":"1-17"},"PeriodicalIF":2.7,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143731955","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Systemic sclerosis presenting TAFRO syndrome-like manifestations including renal glomerular microangiopathy: a case report and literature review.","authors":"Hiroyuki Kawahara, Satoshi Hara, Noriko Iwaki, Hiroko Ikeda, Dai Inoue, Ichiro Mizushima, Hideki Nomura, Yasufumi Masaki, Yasunori Iwata, Mitsuhiro Kawano","doi":"10.1080/25785826.2025.2481675","DOIUrl":"https://doi.org/10.1080/25785826.2025.2481675","url":null,"abstract":"<p><p>TAFRO syndrome is a systemic inflammatory disorder of unknown etiology, and its diagnosis requires the exclusion of autoimmune diseases. A 42-year-old Japanese woman presented with TAFRO syndrome-like manifestations, but had undiagnosed limited-cutaneous systemic sclerosis preventing a definitive diagnosis of TAFRO syndrome. However, her clinical course and pathological findings, including renal glomerular microangiopathy, were consistent with TAFRO syndrome. We performed a systematic review of the literature to evaluate how autoimmunity affects the clinical characteristics of TAFRO syndrome/idiopathic multicentric Castleman disease (iMCD)-TAFRO. We reviewed 95 reported cases of TAFRO syndrome/iMCD-TAFRO and found that at least 41 (43.6%) had various autoantibodies. In particular, the positive rates of anti-nuclear antibody, anti-SS-A antibody, anti-SS-B antibody, PA-IgG, and direct Coombs test were high. Furthermore, we identified 14 cases of autoimmune diseases with TAFRO syndrome-like manifestations. We compared the clinical characteristics of these 14 with those of the autoantibody-positive and -negative cases among the 95 cases of TAFRO syndrome/iMCD-TAFRO. Apart from sex ratio, we found no significant difference in clinical presentation, treatment, or outcome among the groups. In conclusion, TAFRO syndrome/iMCD-TAFRO often accompanies autoantibodies and shares many clinical characteristics with other autoimmune diseases. Clinicians should be aware that some autoimmune diseases mimic TAFRO syndrome/iMCD-TAFRO.</p>","PeriodicalId":37286,"journal":{"name":"Immunological Medicine","volume":" ","pages":"1-10"},"PeriodicalIF":2.7,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143674660","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Advances in understanding the role and mechanism of the cGAS-STING signaling pathway in ocular diseases.","authors":"MengDi Zhang, Jiayu Xu, Wenjia Qu, Jia Gao, Ya Mo","doi":"10.1080/25785826.2025.2475626","DOIUrl":"https://doi.org/10.1080/25785826.2025.2475626","url":null,"abstract":"<p><p>The cGAS-STING signaling pathway plays a critical role in the immune defense against DNA viruses and in autoimmunity, coordinating a cascade of events that enhance cytokine production, particularly type I interferons. This review summarizes recent advancements in understanding the pathway's impact on various ocular diseases, including age-related macular degeneration (AMD), diabetic retinopathy, and uveitis. Activation of this pathway by cytoplasmic DNA from either damaged retinal cells or external pathogens induces inflammatory responses that may accelerate disease progression. Moreover, the paper explores new therapeutic approaches that target this pathway, offering insights into how modulation of cGAS-STING signaling could reduce inflammation and improve clinical outcomes. The emerging research in this area suggests potential for innovative treatments in ocular inflammation and degenerative conditions.</p>","PeriodicalId":37286,"journal":{"name":"Immunological Medicine","volume":" ","pages":"1-15"},"PeriodicalIF":2.7,"publicationDate":"2025-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143587544","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Differences in immunological profile in atopic dermatitis patients with and without dupilumab therapy.","authors":"Jarmila Čelakovská, Eva Čermáková, Petra Boudková, Ctirad Andýs, Jan Krejsek","doi":"10.1080/25785826.2024.2387882","DOIUrl":"10.1080/25785826.2024.2387882","url":null,"abstract":"<p><p>Our aim is to determine the number of leukocytes, T lymphocytes and B lymphocytes and the expression of activation markers CD200 and CD23 on B lymphocytes in atopic dermatitis (AD) patients (treated and not treated with dupilumab) during the pollen season. We examined 29 patients not treated with dupilumab, 24 patients treated with dupilumab and 40 healthy subjects as a control group. The count of T and B lymphocytes and their subsets were assessed by flow cytometry. The non-parametric Kruskal-Wallis one-factor analysis of variance with post hoc by Dunn's test with Bonferroni's modification was used for statistical processing. Although there was a significant improvement in skin findings in patients treated with dupilumab, the changes in immunological profile show a persistent altered immune response characterized by dysregulation and overactivation of B lymphocytes. Dupilumab therapy leads to normalization of relative T regulatory lymphocytes and total memory B lymphocytes and to decreased count of absolute CD8⁺ T lymphocytes. <b>Why carry out this study?</b>Studies investigating the immunological profile of atopic dermatitis (AD) patients during the pollen season are rare. There are no studies investigating the count of B lymphocytes (CD5⁺, CD22⁺ and CD73⁺ B lymphocytes) and the expression of activation markers CD23 and CD200 on B lymphocytes and on their subsets during pollen season in AD patients treated and non-treated with dupilumab therapy.<b>What was learned from the study?</b>In atopic dermatitis (AD) patients with and without dupilumab therapy, we confirmed the significantly higher count of absolute neutrophils, absolute monocytes, absolute eosinophils, absolute basophils, non-switched B lymphocytes, transitional B lymphocytes, CD23 memory, naive, non-switched, switched and total CD23 B lymphocytes, the relative count of CD200 memory and CD200 switched B lymphocytes.In dupilumab treated patients, we confirmed the significantly higher count of relative eosinophils, relative CD16⁺ eosinophils, relative CD200 non-switched B lymphocytes and lower count of absolute CD8⁺ T lymphocytes. Further studies should focus on investigating the effect of dupilumab on CD8⁺ T lymphocytes and their subpopulations.In patients without dupilumab therapy, we confirmed the significantly higher count of relative neutrophils, relative T regulatory lymphocytes and total memory B lymphocytes.The changes in the count of CD5⁺, CD22⁺ and CD73⁺ B lymphocytes were not observed during pollen season in both groups of AD patients.</p>","PeriodicalId":37286,"journal":{"name":"Immunological Medicine","volume":" ","pages":"33-46"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141989023","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Successful maintenance therapy with tocilizumab for severe acute liver failure associated with adult-onset still's disease.","authors":"Koji Suzuki, Mitsuhiro Akiyama, Yukie Nakadai, Shingo Usui, Yuko Kaneko","doi":"10.1080/25785826.2024.2388346","DOIUrl":"10.1080/25785826.2024.2388346","url":null,"abstract":"<p><p>Elevated liver enzymes are commonly observed among adult-onset Still's disease (AOSD), but severe acute liver failure is extremely rare. Although severe acute liver failure associated with AOSD poses a life-threatening condition, the appropriate treatment is unclear. Some case reports have demonstrated the efficacy of high-dose prednisolone (PSL) and cyclosporin A (CyA), although the adverse effects of CyA led certain patients to cease its use. Therefore, an alternative treatment option is crucial, and thus far, there have been no reports of tocilizumab (TCZ) being used for this severe phenotype. Here, we report the first case of successful treatment using TCZ as maintenance therapy for severe ALF associated with AOSD. Following initial treatment with high-dose PSL and CyA, our case was switched to TCZ due to CyA-related side effects including alopecia and tremors. Our case highlights TCZ as a potential option for maintenance therapy of this severe condition.</p>","PeriodicalId":37286,"journal":{"name":"Immunological Medicine","volume":" ","pages":"89-93"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141890290","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Investigating the impact of tocilizumab on serum cytokines concentrations in Japanese FMF patients: a sub-analysis of the NUH01FMF study.","authors":"Tomohiro Koga, Shuntaro Sato, Kaori Furukawa, Hiroshi Yamamoto, Atsushi Kawakami","doi":"10.1080/25785826.2024.2418164","DOIUrl":"10.1080/25785826.2024.2418164","url":null,"abstract":"<p><p>Familial Mediterranean Fever (FMF) is the most common hereditary autoinflammatory disease, characterized by recurrent fever, arthritis, rash, and serositis, and is caused by mutations in the MEFV gene coding for the pyrin protein. The primary treatment goal is to prevent acute attacks and minimize subclinical inflammation to avoid secondary amyloidosis with colchicine as the first-line treatment. However, 10-20% of patients are colchicine-resistant or intolerant. While the therapeutic potential of IL-6 inhibitors such as tocilizumab (TCZ) has been suggested, the detailed serum cytokine profiles after TCZ treatment in patients with FMF remain largely unexplored. This study focused on a sub-analysis of a clinical trial evaluating TCZ in patients with colchicine-resistant FMF (crFMF). We analyzed the serum cytokine profiles at 0, 2, 4, 8, 12, 16, 20, and 24 weeks in the TCZ and placebo groups. Our findings revealed a decrease in serum C-X-C motif chemokine ligand 1 and vascular endothelial growth factor levels in the TCZ group at week 4 compared to baseline, which persisted until week 24, indicating the potential of TCZ to manage crFMF by modulating specific inflammatory cytokines. Further research is required to confirm these findings and optimize the treatment strategies for FMF.</p>","PeriodicalId":37286,"journal":{"name":"Immunological Medicine","volume":" ","pages":"70-77"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142509810","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Increased response to granulocyte-macrophage colony-stimulating factor in peripheral blood cells and transient manifestations mimicking juvenile myelomonocytic leukemia in a male patient with NEMO deficiency caused by a deep intronic pathogenic variant of IKBKG.","authors":"Masahiro Ueki, Shinsuke Hirabayashi, Yoshitaka Honda, Shunichiro Takezaki, Hiroki Ohata, Shimaa Said Mohamed Ali Abdrabou, Saori Sawai, Yukayo Terashita, Yuko Cho, Hideki Muramatsu, Kazushi Izawa, Takahiro Yasumi, Yoshiyuki Takahashi, Masafumi Yamada, Atsushi Manabe","doi":"10.1080/25785826.2024.2422639","DOIUrl":"10.1080/25785826.2024.2422639","url":null,"abstract":"<p><p>X-linked NF-κB essential modulator (NEMO) deficiency is a primary immunodeficiency characterized by combined immunodeficiency and ectodermal dysplasia. Monocytes from the patients demonstrate a severely impaired response to tissue necrosis factor or lipopolysaccharide, whereas hyper-inflammation is found in some patients. Juvenile myelomonocytic leukemia (JMML) is a pediatric malignancy caused by hypersensitivity to granulocyte-macrophage colony-stimulating factor (GM-CSF) and aberrant RAS signaling activation. Patients with JMML demonstrate characteristic manifestations such as splenomegaly, monocytosis and the presence of myeloid or erythroid precursors in the peripheral blood. Here, we present the case of a male infant with ectodermal dysplasia, bacterial septicemia, Pneumocystis pneumonia, severe inflammation and transient manifestations mimicking JMML. Genetic analysis revealed a deep intronic germline variant of IKBKG. Full-length IKBKG cDNA and NEMO protein expression were almost inexistent. Peripheral mononuclear cells (PBMCs) from the patient showed increased RAS signaling activation with GM-CSF or Phorbol 12-myristate 13-acetate without the RAS-associated gene variant, although the increased RAS signaling activation in induced-pluripotent stem cell-derived myeloid lineage and bone marrow-derived mesenchymal cells was not evident. The patient with NEMO deficiency demonstrated JMML-like manifestation and severe inflammation. PBMCs of the patient demonstrated increased RAS signaling activation with unknown pathophysiology.</p>","PeriodicalId":37286,"journal":{"name":"Immunological Medicine","volume":" ","pages":"94-101"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142559067","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparison of different ANCA detection methods in a predominantly MPO-ANCA-associated vasculitis cohort.","authors":"Yasuhiro Katsumata, Ken-Ei Sada, Tomohiro Kameda, Hiroaki Dobashi, Shinya Kaname, Naotake Tsuboi, Yoshinori Matsumoto, Koichi Amano, Naoto Tamura, Masayoshi Harigai","doi":"10.1080/25785826.2024.2408054","DOIUrl":"10.1080/25785826.2024.2408054","url":null,"abstract":"<p><p>We compared different antineutrophil cytoplasmic antibody (ANCA) detection methods using a predominantly myeloperoxidase (MPO)-ANCA-associated vasculitis cohort. Stored sera from 147 patients with untreated ANCA-associated vasculitis (AAV), including microscopic polyangiitis and granulomatosis with polyangiitis (<i>n</i> = 115 and 32, respectively), and 124 disease controls were tested for P-ANCA and C-ANCA with immunofluorescence (IIF), and for MPO-ANCA and proteinase 3 (PR3)-ANCA with different antigen-specific immunoassays: direct enzyme-linked immunosorbent assay (ELISA), chemiluminescent enzyme immunoassay (CLEIA), third-generation fluorescent enzyme immunoassay (FEIA), and latex turbidimetrical immunoassay (LTIA). In addition, MPO-ANCA and PR3-ANCA titers were calibrated using certified reference materials (CRMs). The sensitivities and specificities for AAV diagnoses were 95% and 94% (IIF), 86% and 98% (ELISA), 93% and 94% (CLEIA), 92% and 96% (FEIA), and 68% and 88% (LTIA). Dual IIF/antigen-specific immunoassay testing reduced diagnostic accuracies from 94% to 93%. The quantitative agreement between ANCA levels measured using CLEIA and FEIA and calibrated using CRMs was not good. In conclusion, this study demonstrated the high performance of antigen-specific immunoassays for AAV diagnosis in a predominantly MPO-ANCA-associated vasculitis cohort and suggested that the benefit of dual IIF/antigen-specific immunoassay testing is limited. Standardizing ANCA measurements using different immunoassays was difficult, even when using CRMs.</p>","PeriodicalId":37286,"journal":{"name":"Immunological Medicine","volume":" ","pages":"47-57"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142401560","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}