Immunological Medicine最新文献

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Pathogenesis and detection methods of anti-acetylcholine receptor antibodies in myasthenia gravis. 重症肌无力患者抗乙酰胆碱受体抗体的发病机制及检测方法。
IF 2.7
Immunological Medicine Pub Date : 2025-06-01 Epub Date: 2025-02-27 DOI: 10.1080/25785826.2025.2472449
Shigeaki Suzuki
{"title":"Pathogenesis and detection methods of anti-acetylcholine receptor antibodies in myasthenia gravis.","authors":"Shigeaki Suzuki","doi":"10.1080/25785826.2025.2472449","DOIUrl":"10.1080/25785826.2025.2472449","url":null,"abstract":"<p><p>Myasthenia gravis (MG), which affects the endplate region of the postsynaptic neuromuscular junction, is the best-understood autoimmune disease. MG is driven by anti-acetylcholine receptor (AChR) or muscle-specific receptor tyrosine kinase, and 65% of MG patients have anti-AChR-positive generalized MG. Experimental autoimmune MG is a useful model to investigate the pathogenic mechanisms of anti-AChR antibodies and to evaluate the efficacy of new immunotherapies. Since long-term drug treatment is usually necessary for MG patients, the selection of immunotherapy must be chosen based on an understanding of the pathophysiology, including the roles of the thymus, T cells, B cells, autoantibodies, and neuromuscular junction. The main pathogenic mechanism of MG is the activation of the complement system caused by the attack of anti-AChR antibodies. Molecular technology using the neonatal Fc receptor (FcRn) is currently being applied to the development of new MG therapies. Many biological drugs targeting B cells, interleukin-6, FcRn and complement show promise as potential therapeutics for anti-AChR-positive generalized MG. With regard to anti-AChR antibody detection, the overall agreement rate between radioimmunoassay and enzyme linked immunosorbent assay is 91%, with positive agreement of 87% and negative agreement of 99%.</p>","PeriodicalId":37286,"journal":{"name":"Immunological Medicine","volume":" ","pages":"117-123"},"PeriodicalIF":2.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143516752","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}
引用次数: 0
Myositis-specific and myositis-associated autoantibodies: their clinical characteristics and potential pathogenic roles. 肌炎特异性和肌炎相关自身抗体:临床特征和潜在致病作用。
IF 2.7
Immunological Medicine Pub Date : 2025-06-01 Epub Date: 2024-10-12 DOI: 10.1080/25785826.2024.2413604
Mariko Ogawa-Momohara, Yoshinao Muro
{"title":"Myositis-specific and myositis-associated autoantibodies: their clinical characteristics and potential pathogenic roles.","authors":"Mariko Ogawa-Momohara, Yoshinao Muro","doi":"10.1080/25785826.2024.2413604","DOIUrl":"10.1080/25785826.2024.2413604","url":null,"abstract":"<p><p>In recent years, various myositis-specific and myositis-associated autoantibodies have been identified in idiopathic inflammatory myopathies, including dermatomyositis (DM), anti-synthetase syndrome (ASS), immune-mediated necrotizing myopathy (IMNM), and inclusion body myositis (IBM). These autoantibodies exhibit unique characteristics in terms of organ involvement, severity, and treatment response, making their understanding crucial for accurate diagnosis and effective therapy. This review provides a comprehensive overview of the clinical features of recently discovered myositis-specific and associated autoantibodies, while exploring their potential roles in the pathogenesis and exacerbation of myositis. Key findings include the production of anti-TIF1γ antibodies in model mice, the upregulation of Mi2-related genes in anti-Mi2 antibody-positive dermatomyositis muscle tissue, and Jo-1 antigen-induced T cell activation, shedding light on whether disease mechanisms are driven by autoantibodies or autoantigens.</p>","PeriodicalId":37286,"journal":{"name":"Immunological Medicine","volume":" ","pages":"104-116"},"PeriodicalIF":2.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142476737","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}
引用次数: 0
Antibodies against Clostridium butyricum in the children of mothers at risk for gestational diabetes. 抗丁酸梭菌抗体的母亲的孩子在妊娠糖尿病的风险。
IF 2.7
Immunological Medicine Pub Date : 2025-05-23 DOI: 10.1080/25785826.2025.2504021
Celeste Peterson, Aili Tagoma, Kristi Alnek, Anu Bärenson, Tamara Vorobjova, Ija Talja, Helis Janson, Anne Kirss, Siiri Kõljalg, Aki Sinkkonen, Marja Irmeli Roslund, Raivo Uibo
{"title":"Antibodies against <i>Clostridium butyricum</i> in the children of mothers at risk for gestational diabetes.","authors":"Celeste Peterson, Aili Tagoma, Kristi Alnek, Anu Bärenson, Tamara Vorobjova, Ija Talja, Helis Janson, Anne Kirss, Siiri Kõljalg, Aki Sinkkonen, Marja Irmeli Roslund, Raivo Uibo","doi":"10.1080/25785826.2025.2504021","DOIUrl":"10.1080/25785826.2025.2504021","url":null,"abstract":"<p><p>Gestational diabetes mellitus (GDM) is linked to an imbalance in gut microbiota composition, which can be transferred to the mother's offspring. <i>Clostridium butyricum</i>, known for its health benefits in diabetes and allergy, lacks sufficient data regarding its effect on the immune system's development in the offspring of mothers with GDM. This study assessed antibody responses against <i>C. butyricum</i> T2F3 in children of mothers at risk for GDM, involving 88 children aged 1-6 years. Antibody responses were measured with flow cytometry and immunoblot. Lower IgG median fluorescence intensity (MFI) values and fewer IgA and IgG bands against <i>C. butyricum</i> were detected in children of mothers with GDM. Maternal body mass index was positively associated with children's IgG MFI and number of IgG bands. Fewer IgA bands were detected in children with higher IgE levels, atopic dermatitis, asthma, and allergic rhinitis. More IgG bands were detected in children with higher anti-β-lactoglobulin IgG levels. Children with autoimmune risk-related HLA-DR3/DQ2.5 had fewer IgA bands, while those with neutral HLA-DR1/DQ5 had higher IgA, but lower IgG MFI. These results indicate that maternal prenatal changes could affect their offspring's immune response against <i>C. butyricum</i>. Moreover, <i>C. butyricum</i> could have a protective role against allergic sensitization.</p>","PeriodicalId":37286,"journal":{"name":"Immunological Medicine","volume":" ","pages":"1-11"},"PeriodicalIF":2.7,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144129088","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}
引用次数: 0
The roles of natural killer cells in bone and arthritic disease: a narrative review. 自然杀伤细胞在骨和关节炎疾病中的作用:一个叙述性的回顾。
IF 2.7
Immunological Medicine Pub Date : 2025-05-17 DOI: 10.1080/25785826.2025.2506260
Yiming Zhao, Qian Liu, Jinmin Zhao, Dezhi Song
{"title":"The roles of natural killer cells in bone and arthritic disease: a narrative review.","authors":"Yiming Zhao, Qian Liu, Jinmin Zhao, Dezhi Song","doi":"10.1080/25785826.2025.2506260","DOIUrl":"https://doi.org/10.1080/25785826.2025.2506260","url":null,"abstract":"<p><p>The skeletal system is responsible for the body's support and motor functions, and can be pathologically affected by factors, such as metabolism, autoimmune inflammation, tumors, and infections. Regarding tissue localization and biological function, the immune system is deeply involved in the physiological and pathological processes of the skeletal system. As a regulator and effector cell of the innate immune system, natural killer (NK) cells can exert cytotoxic effects through cell contact and immunomodulatory effects through cytokine secretion. In the past 30 years, many advances have been made regarding the role of NK cells and their derived cytokines on bone and joints. In this review, the role of NK cells in the physiological activities of bone remodeling is summarized first, focusing on osteoclast differentiation and function. Subsequently, the roles of NK cells in osteoarthritis, bone tumors, and bone diseases caused by microbial infections are described, meanwhile, some conflicting research results are discussed. By reviewing the state-of-the-art progress of NK cells in the above-mentioned bone physiological and pathological processes, it is helpful to clarify the blind spots of current research and provide some references for the integrated evaluation of immune factors in the study of skeletal system diseases.</p>","PeriodicalId":37286,"journal":{"name":"Immunological Medicine","volume":" ","pages":"1-14"},"PeriodicalIF":2.7,"publicationDate":"2025-05-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144095052","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}
引用次数: 0
Ovariectomy-induced bone loss through inappropriate inflammatory response: an osteoimmunological perspective on postmenopausal osteoporosis. 卵巢切除术引起的骨质流失通过不适当的炎症反应:绝经后骨质疏松的骨免疫学观点。
IF 2.7
Immunological Medicine Pub Date : 2025-05-16 DOI: 10.1080/25785826.2025.2506870
Lilika Higuchi, Nozomi Ouchi, Yasuyuki Negishi, Munehiro Naruo, Maiko Kusano, Shunji Suzuki, Takahisa Okuda, Rimpei Morita
{"title":"Ovariectomy-induced bone loss through inappropriate inflammatory response: an osteoimmunological perspective on postmenopausal osteoporosis.","authors":"Lilika Higuchi, Nozomi Ouchi, Yasuyuki Negishi, Munehiro Naruo, Maiko Kusano, Shunji Suzuki, Takahisa Okuda, Rimpei Morita","doi":"10.1080/25785826.2025.2506870","DOIUrl":"https://doi.org/10.1080/25785826.2025.2506870","url":null,"abstract":"<p><p>Postmenopausal osteoporosis (PO) is a prevalent condition that significantly impairs the quality of life in elderly women. While traditionally attributed to estrogen deficiency, emerging evidence suggests that immune dysregulation plays a critical role in its pathogenesis. This study investigates the osteoimmunological mechanisms underlying PO using an ovariectomy (Ovx) mouse model. Our findings indicate that Ovx mice exhibit substantial reductions in bone mineral density and bone volume, accompanied by a marked suppression of interleukin-4 (IL-4) and interferon-gamma (IFN-γ) production, particularly from natural killer T (NKT) cells. Lipidomic analysis of bone marrow further revealed an upregulation of omega-6 fatty acids, contributing to an inflammatory microenvironment that promotes excessive osteoclast activation. Notably, administration of the glycolipid OCH restored cytokine production and mitigated bone loss in Ovx mice, suggesting its therapeutic potential. These findings highlight the complex interplay between immune responses and lipid metabolism in PO and propose novel therapeutic strategies aimed at modulating immune function to prevent bone loss. This study offers valuable insights into the osteoimmunological mechanisms of PO and underscores the potential of immunomodulatory approaches for its management.</p>","PeriodicalId":37286,"journal":{"name":"Immunological Medicine","volume":" ","pages":"1-14"},"PeriodicalIF":2.7,"publicationDate":"2025-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144081131","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}
引用次数: 0
Rapid response of eculizumab: a rescue therapy for ventilator-dependent refractory myasthenic crisis. eculizumab的快速反应:呼吸机依赖性难治性肌无力危象的抢救治疗。
IF 2.7
Immunological Medicine Pub Date : 2025-05-06 DOI: 10.1080/25785826.2025.2500698
Yohei Takenobu, Kazutoshi Ikeda, Sachiko Hasebe, Noriko Nomura, Shunsuke Tamaki, Kayoko Yukawa, Junichi Miyahara, Kentaro Yamakawa, Manabu Inoue
{"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}
引用次数: 0
Causal association of immune-related genes with mouth ulcers: findings from summary-based Mendelian randomization and transcriptome-wide association analysis. 免疫相关基因与口腔溃疡的因果关系:基于摘要的孟德尔随机化和转录组全关联分析的发现。
IF 2.7
Immunological Medicine Pub Date : 2025-05-05 DOI: 10.1080/25785826.2025.2498106
Mengru Shi, Tianqi Wang, Qi Xie, Guangwei Yuan, Juan Xia, Jingyun Yang, Weili Xie, Zetao Chen, Xiaobing Chen
{"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}
引用次数: 0
Bibliometric analysis of systemic lupus erythematosus during pregnancy from 2003 to 2024. 2003 ~ 2024年妊娠期系统性红斑狼疮文献计量学分析。
IF 2.7
Immunological Medicine Pub Date : 2025-03-28 DOI: 10.1080/25785826.2025.2483811
Xinyan Zou, Xinfu Zou, Qiaoqiao Liu, Bingxin Zhou, Shujie He, Xiulan Liao, Hanqing Zhao
{"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}
引用次数: 0
Systemic sclerosis presenting TAFRO syndrome-like manifestations including renal glomerular microangiopathy: a case report and literature review. 系统性硬化症表现为TAFRO综合征样表现,包括肾小球微血管病变:1例报告及文献复习。
IF 2.7
Immunological Medicine Pub Date : 2025-03-21 DOI: 10.1080/25785826.2025.2481675
Hiroyuki Kawahara, Satoshi Hara, Noriko Iwaki, Hiroko Ikeda, Dai Inoue, Ichiro Mizushima, Hideki Nomura, Yasufumi Masaki, Yasunori Iwata, Mitsuhiro Kawano
{"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}
引用次数: 0
Overlapping Aicardi-Goutières and Singleton-Merten syndromes with a heterozygous gain-of-function mutation in IFIH1 mimicking juvenile idiopathic arthritis. 重叠aicardii - gouti<e:1>综合征和Singleton-Merten综合征伴IFIH1杂合功能获得突变,模拟幼年特发性关节炎。
IF 2.7
Immunological Medicine Pub Date : 2025-03-21 DOI: 10.1080/25785826.2025.2479148
Susumu Yamazaki, Shuya Kaneko, Asami Shimbo, Hitoshi Irabu, Ryo Ogino, Takayuki Miyamoto, Kazushi Izawa, Yuko Segawa, Jun Kakizaki, Masaaki Mori, Masaki Shimizu
{"title":"Overlapping Aicardi-Goutières and Singleton-Merten syndromes with a heterozygous gain-of-function mutation in <i>IFIH1</i> mimicking juvenile idiopathic arthritis.","authors":"Susumu Yamazaki, Shuya Kaneko, Asami Shimbo, Hitoshi Irabu, Ryo Ogino, Takayuki Miyamoto, Kazushi Izawa, Yuko Segawa, Jun Kakizaki, Masaaki Mori, Masaki Shimizu","doi":"10.1080/25785826.2025.2479148","DOIUrl":"https://doi.org/10.1080/25785826.2025.2479148","url":null,"abstract":"<p><p>Aicardi-Goutières syndrome (AGS) and Singleton-Merten syndrome (SMS) are associated with heterozygous gain-of-function mutations in the interferon induced with helicase C domain 1 (IFIH1) gene. Recent reports describe patients exhibiting overlapping clinical features of AGS and SMS, along with marked type I interferon (IFN) overproduction. However, the clinical characteristics and optimal treatment strategies remain unclear. Herein, we present a patient with overlapping clinical features of AGS and SMS who was initially misdiagnosed with juvenile idiopathic arthritis. Surgical soft tissue release of the hip and knee joints improved joint deformities and spastic paraparesis. Baricitinib effectively treated refractory chilblains and skin ulcers while reducing IFN-stimulated gene overexpression in peripheral blood. These findings indicate that baricitinib may be a safe and effective treatment for AGS-SMS overlap, and surgical intervention may be a viable option for refractory joint deformities with spastic paraparesis.</p>","PeriodicalId":37286,"journal":{"name":"Immunological Medicine","volume":" ","pages":"1-5"},"PeriodicalIF":2.7,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143674590","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}
引用次数: 0
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