Zhi Feng Sherman Lim , Alberta Y. Hoi , Fabien B. Vincent , Joshua D. Ooi , Eric F. Morand , Maureen Rischmueller , Yi Tian Ting
{"title":"Regulatory T cell therapy for Sjögren's disease: From pathogenesis to targeted treatment","authors":"Zhi Feng Sherman Lim , Alberta Y. Hoi , Fabien B. Vincent , Joshua D. Ooi , Eric F. Morand , Maureen Rischmueller , Yi Tian Ting","doi":"10.1016/j.jtauto.2025.100311","DOIUrl":"10.1016/j.jtauto.2025.100311","url":null,"abstract":"<div><div>Sjögren's disease (SjD) is a chronic systemic autoimmune disorder characterised by lymphocytic infiltration of the salivary and lacrimal glands, leading to the hallmark symptoms of dry eyes and dry mouth. Beyond glandular dysfunction, many patients experience systemic complications—including B cell hyperactivity, organ-specific inflammation, and a markedly increased risk of non-Hodgkin lymphoma—that are frequently under-recognised and poorly managed. Current treatments remain largely empirical and symptomatic, with limited efficacy in modifying disease progression or restoring immune tolerance.</div><div>Recent advances have illuminated profound dysregulation in both innate and adaptive immunity, revealing novel therapeutic targets now under investigation in clinical trials, including type I interferon signalling, B cell activation, and co-stimulatory pathways. Central to this dysregulation is T cell–driven pathology: CD8<sup>+</sup> T cell cytotoxicity, defective regulatory T cell (Treg) function, and HLA class II–mediated presentation of self-antigens to autoreactive CD4<sup>+</sup> T cells are key mechanisms in disease initiation and persistence.</div><div>A growing body of evidence implicates Ro autoantigens—Ro60 and Ro52—as central targets in SjD pathogenesis. Anti-Ro antibodies are present in approximately 70 % of patients and serve as both diagnostic markers and indicators of systemic involvement. Ro antigens and their corresponding antibodies are consistently detected in inflamed salivary tissues, underscoring their potential as compelling targets for antigen-specific therapy.</div><div>This review examines the immunopathogenic role of Ro-specific T cell responses in SjD and outlines how engineered Treg-based therapies may enable precise immune modulation, restore tolerance, and provide durable disease control for patients with this complex autoimmune condition.</div></div>","PeriodicalId":36425,"journal":{"name":"Journal of Translational Autoimmunity","volume":"11 ","pages":"Article 100311"},"PeriodicalIF":3.6,"publicationDate":"2025-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144932219","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}
Georgios K. Vasileiadis , Yuan Zhang , Marion Laudette , Tahzeeb Fatima , Anna-Karin Hultgård Ekwall , Reshmi Sureshkumar , Ronald van Vollenhoven , Jon Lampa , Bjorn Gudbjornsson , Espen A. Haavardsholm , Dan Nordström , Gerdur Gröndal , Kim Hørslev-Petersen , Kristina Lend , Merete L. Hetland , Michael Nurmohamed , Mikkel Østergaard , Till Uhlig , Tuulikki Sokka-Isler , Anna Rudin , Cristina Maglio
{"title":"Acylcarnitine enrichment as a characteristic of rheumatoid arthritis fibroblast-like synoviocyte metabolic fingerprint","authors":"Georgios K. Vasileiadis , Yuan Zhang , Marion Laudette , Tahzeeb Fatima , Anna-Karin Hultgård Ekwall , Reshmi Sureshkumar , Ronald van Vollenhoven , Jon Lampa , Bjorn Gudbjornsson , Espen A. Haavardsholm , Dan Nordström , Gerdur Gröndal , Kim Hørslev-Petersen , Kristina Lend , Merete L. Hetland , Michael Nurmohamed , Mikkel Østergaard , Till Uhlig , Tuulikki Sokka-Isler , Anna Rudin , Cristina Maglio","doi":"10.1016/j.jtauto.2025.100310","DOIUrl":"10.1016/j.jtauto.2025.100310","url":null,"abstract":"<div><h3>Objective</h3><div>In rheumatoid arthritis (RA), fibroblast-like synoviocytes (FLS) alter their metabolism to support their activation. We aimed to analyse the full spectrum of metabolic alterations associated with RA by performing untargeted metabolomics in RA FLS vs. non-inflamed (NI) FLS.</div></div><div><h3>Methods</h3><div>Untargeted annotated metabolomics was performed using mass spectrometry on ten primary RA and seven NI FLS culture extracts and 220 serum samples from participants with early RA from the randomised controlled NORD-STAR trial. Carnitine-related proteins were measured with Western blot. FLS bioenergetic profile was assessed with a Seahorse flux analyser.</div></div><div><h3>Results</h3><div>Metabolomics analysis based on 138 annotated metabolites revealed a distinct metabolic fingerprint between RA and NI FLS. Of the 12 metabolites enriched in RA FLS, 11 were acylcarnitines. Pro-inflammatory stimulation of NI FLS also led to acylcarnitine accumulation. RA FLS exhibited lower levels of CD36, a fatty acid transporter, but similar levels of L-carnitine transporter, and carnitine palmitoyltransferase 1 A and 2 compared to NI FLS. Seahorse analyses showed no difference in fatty acid oxidation between RA and NI FLS; however, RA FLS displayed mitochondrial dysfunction and energetic impairment. Serum acylcarnitine content decreased after 24 weeks of treatment with methotrexate combined with abatacept or tocilizumab in patients with early RA achieving remission.</div></div><div><h3>Conclusion</h3><div>Acylcarnitine accumulation is a characteristic of RA FLS metabolic fingerprint and could be linked to mitochondrial dysfunction. In patients with early RA, acylcarnitine content in serum decreases after successful anti-rheumatic treatment. These results indicate a dysregulation in acylcarnitine metabolism in RA at the joint level and systemically.</div></div>","PeriodicalId":36425,"journal":{"name":"Journal of Translational Autoimmunity","volume":"11 ","pages":"Article 100310"},"PeriodicalIF":3.6,"publicationDate":"2025-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144878752","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}
Fatemeh Farhid , Hadi Rezaeeyan , Reza Habibi , Ehsan Kamali Yazdi , Michael R. Hamblin , Jalal Naghinezhad
{"title":"When the victim becomes the villain: Platelets as drivers of immune dysregulation in ITP","authors":"Fatemeh Farhid , Hadi Rezaeeyan , Reza Habibi , Ehsan Kamali Yazdi , Michael R. Hamblin , Jalal Naghinezhad","doi":"10.1016/j.jtauto.2025.100309","DOIUrl":"10.1016/j.jtauto.2025.100309","url":null,"abstract":"<div><div>Immune thrombocytopenia (ITP) is a heterogeneous autoimmune disorder characterized by immune-mediated destruction of platelets and impaired platelet production. Although autoantibodies have historically been central to the understanding of ITP, current evidence demonstrates that its pathogenesis extends well beyond humoral mechanisms to involve complex dysregulation of both innate and adaptive immune responses. Multiple immune pathways—including autoreactive B and T cells, dendritic cell activation, and regulatory T cell deficiency—contribute to disease onset, progression, and chronicity. Moreover, ITP encompasses a broad spectrum of clinical and immunological subtypes, including primary idiopathic forms and secondary ITP associated with autoimmune diseases, infections, and inborn errors of immunity. This review offers a novel perspective on ITP pathogenesis, emphasizing the active immunoregulatory role of platelets as contributors to immune dysregulation. Far from being passive targets, platelets in ITP actively shape immune responses through crosstalk with immune cells, particularly CD4<sup>+</sup> T helper (Th) and CD8<sup>+</sup> cytotoxic T cells. This interaction, primarily mediated via the P-selectin–PSGL-1 axis, promotes Th1/Th17 polarization, enhances autoantibody production, and accelerates platelet destruction. In parallel, platelet-derived microparticles (PMPs) act as potent immune effectors by delivering pro-inflammatory cytokines and autoantigens that sustain chronic immune activation. Prolonged platelet activation also gives rise to a distinct subpopulation known as “hairy platelets”—exhausted, granule-depleted cells with altered surface phenotypes and sustained pro-inflammatory potential. Although functionally exhausted in terms of coagulation, these platelets retain immunostimulatory capacity through persistent phosphatidylserine exposure and cytokine release. By reframing platelets as active participants in the pathogenesis of ITP, this review proposes that targeting platelet activation, platelet–T cell interactions, and PMP release may represent innovative therapeutic strategies. Such approaches could offer more precise and personalized treatment options, particularly for patients with chronic or refractory disease, by restoring immune balance and improving long-term outcomes.</div></div>","PeriodicalId":36425,"journal":{"name":"Journal of Translational Autoimmunity","volume":"11 ","pages":"Article 100309"},"PeriodicalIF":3.6,"publicationDate":"2025-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144886219","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}
Sonia Spinelli , Andrea Garbarino , Francesca Lugani , Edoardo La Porta , Noemi Rumeo , Giorgio Piaggio , Alberto Magnasco , Antonella Trivelli , Maria Ludovica Degl’Innocenti , Gino Tripodi , Simona Granata , Francesca Leone , Elena Zocchi , Lorenzo Gallon , Gian Marco Ghiggeri , Enrico Verrina , Gianluigi Zaza , Giovanni Candiano , Maurizio Bruschi
{"title":"Afucosylated IgG in idiopathic nephrotic syndrome patients with anti-nephrin autoantibodies correlate with disease activity","authors":"Sonia Spinelli , Andrea Garbarino , Francesca Lugani , Edoardo La Porta , Noemi Rumeo , Giorgio Piaggio , Alberto Magnasco , Antonella Trivelli , Maria Ludovica Degl’Innocenti , Gino Tripodi , Simona Granata , Francesca Leone , Elena Zocchi , Lorenzo Gallon , Gian Marco Ghiggeri , Enrico Verrina , Gianluigi Zaza , Giovanni Candiano , Maurizio Bruschi","doi":"10.1016/j.jtauto.2025.100307","DOIUrl":"10.1016/j.jtauto.2025.100307","url":null,"abstract":"<div><h3>Background</h3><div>Idiopathic nephrotic syndrome (INS) is a glomerular disorder characterized by podocyte injury and proteinuria. Emerging evidence suggests that anti-nephrin autoantibodies (Abs) may contribute to disease pathogenesis in a subset of INS patients. Variation in techniques for detecting anti-nephrin Abs and lack of urinary data contribute to uncertainties of results.</div><div>While reduced IgG fucosylation is known to enhance antibody-dependent cellular cytotoxicity in non-INS autoimmune diseases, its role in modulating anti-nephrin autoantibody function and disease severity in INS remains unexplored.</div></div><div><h3>Methods</h3><div>We studied serum and urine of pediatric and young adult patients with biopsy-proven focal segmental glomerulosclerosis (FSGS) or minimal change disease (MCD) with different disease activity (proteinuria + <em>vs</em> proteinuria-). Anti-nephrin autoantibodies were evaluated with either conventional ELISA and immunoprecipitation using recombinant full-length extracellular domain of FLAG tagged human nephrin. Aleuria Aurantia Lectin (AAL) and Ulex Europaeus Agglutinin I (UEA-I) Lectins assessed IgG autoantibody fucosylation.</div></div><div><h3>Results</h3><div>Anti-nephrin autoantibodies were detected in serum of 11 % of FSGS and 15 % of MCD patients, with a higher prevalence among those with nephrotic-range proteinuria. These autoantibodies were absent in healthy controls as well as in patients with primary membranous nephropathy and class V lupus nephritis. Autoantibody titers correlated with disease activity, decreasing during remission. Immunoprecipitation confirmed results obtained with ELISA. In a subset of anti-nephrin positive patients, the autoantibodies were also detected in urine. Circulating anti-nephrin autoantibodies showed significantly reduced antennary and core fucosylation of IgG.</div></div><div><h3>Conclusions</h3><div>Our findings confirmed the significance of anti-nephrin autoantibodies as markers of active disease in a small subset of INS patients and showed their presence in urine. ELISA and Immunoprecipitation results correlated. Molecular studies showed that altered IgG fucosylation may contribute to immune-mediated podocyte injury. These insights provide potential biomarkers for disease monitoring and therapeutic targets in INS.</div></div>","PeriodicalId":36425,"journal":{"name":"Journal of Translational Autoimmunity","volume":"11 ","pages":"Article 100307"},"PeriodicalIF":3.6,"publicationDate":"2025-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144863556","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":"Targeted regulatory T cell activation by site-specific PEGylated interleukin-2 mitigates autoimmune inflammation","authors":"Masahiro Ikeda , Shinpei Yamaguchi , Shigeki Takaoka , Yasuko Sakaguchi , Shunki Yasui","doi":"10.1016/j.jtauto.2025.100306","DOIUrl":"10.1016/j.jtauto.2025.100306","url":null,"abstract":"<div><div>Dysregulation of immune homeostasis accompanied by regulatory T cell (Treg) dysfunction is a hallmark of various autoimmune and inflammatory diseases. While low-dose interleukin-2 (IL-2) treatment can enhance Treg levels and alleviate disease symptoms, its short half-life necessitates frequent dosing. Furthermore, adverse events associated with the activation of other immune cells are often observed. In this study, using a site-specific PEGylation approach, we developed a novel IL-2 variant, I129-W80, which exhibited an IL-2Rα–biased binding profile, driven by the steric hindrance of the PEG moiety. It selectively activated Tregs in vitro and could overcome inhibition by the endogenous decoy receptor, soluble IL-2Rα, unlike the Fc-fusion IL-2 variant AMG-592. In a single-dose monkey study, I129-W80 demonstrated an extended half-life, along with sustained amplification and activation of Tregs. At the maximum dose that did not induce C-reactive protein elevation, I129-W80 showed superior activity compared with AMG-592. I129-W80 improved inflammatory responses in both delayed-type hypersensitivity and xenogeneic graft-versus-host disease models. Additionally, in an imiquimod-induced dermatitis model, I129-W80 exhibited reduced distribution to inflamed tissues compared with AMG-592. These findings demonstrated that I129-W80 possesses distinct properties relative to Fc-fusion IL-2 variant and can correct immune imbalances caused by Treg dysfunction, thereby improving the symptoms of various autoimmune diseases.</div></div>","PeriodicalId":36425,"journal":{"name":"Journal of Translational Autoimmunity","volume":"11 ","pages":"Article 100306"},"PeriodicalIF":3.6,"publicationDate":"2025-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144863554","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":"Exploration of shared biomarkers and mechanisms in systemic lupus erythematous and lung cancer via bioinformatics analysis","authors":"Chueh-Hsuan Hsu , Shuo-Chueh Chen , Yung-Luen Yu","doi":"10.1016/j.jtauto.2025.100304","DOIUrl":"10.1016/j.jtauto.2025.100304","url":null,"abstract":"<div><div>Systemic lupus erythematosus (SLE) patients exhibit a heightened risk of developing lung cancer, yet the underlying molecular mechanisms remain poorly understood. This study aimed to identify shared genetic factors linking SLE and LC using publicly available transcriptomic data from the Gene Expression Omnibus (GEO). Through integrated differentially expressed gene (DEG) analysis and weighted gene co-expression network analysis (WGCNA), we identified five genes consistently upregulated in both SLE and lung cancer. Gene set enrichment analysis (GSEA) revealed that these shared genes were enriched in inflammatory pathways, particularly those involving interferon-alpha, interferon-gamma, and general inflammatory responses. We applied least absolute shrinkage and selection operator (LASSO) regression to pinpoint potential diagnostic biomarkers and identified two key candidates: AIM2 and SLC26A8. These biomarkers demonstrated robust diagnostic performance with area under the ROC curve (AUC) values exceeding 0.75 in both training and validation cohorts. Immune infiltration and survival analyses using The Cancer Genome Atlas (TCGA) further supported their clinical relevance. Notably, high AIM2 expression was significantly associated with poorer overall survival in female lung adenocarcinoma patients (P = 0.03), and SLC26A8 expression was significantly linked to survival outcomes only in patients with a history of smoking (P = 0.01). These findings are particularly meaningful in SLE, where most patients are female and smoking is a known risk factor. Our study enhances the understanding of autoimmune-driven carcinogenesis and opens new avenues for precision medicine strategies in managing patients with SLE at risk for lung cancer.</div></div>","PeriodicalId":36425,"journal":{"name":"Journal of Translational Autoimmunity","volume":"11 ","pages":"Article 100304"},"PeriodicalIF":3.6,"publicationDate":"2025-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144771488","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}
Daan A.R. Castelijn , Nicolette J. Wierdsma , Kim de Buck , Maaike A. van Bree , Tracy-Jane T.H.D. Eisden , Jolien C. Hollander , Gerd Bouma , Hetty J. Bontkes
{"title":"A laboratory test to detect gliadin-specific CD4+ T-cells for difficult to diagnose celiac disease","authors":"Daan A.R. Castelijn , Nicolette J. Wierdsma , Kim de Buck , Maaike A. van Bree , Tracy-Jane T.H.D. Eisden , Jolien C. Hollander , Gerd Bouma , Hetty J. Bontkes","doi":"10.1016/j.jtauto.2025.100301","DOIUrl":"10.1016/j.jtauto.2025.100301","url":null,"abstract":"<div><h3>Objectives</h3><div>Discrepancy between serology and small bowel histology, such as seronegative CD, poses a diagnostic challenge in celiac disease (CD) diagnosis. Recently described methods to detect gliadin-specific T-cells are too laborious even in a specialized diagnostic setting. We developed a method, which can be implemented in specialized diagnostic laboratories.</div></div><div><h3>Methods</h3><div>Gliadin-specific T-cells were analyzed by α1-and α2-gliadin peptide loaded Dextramers (Dm) in healthy controls (HC, n = 18), patients with non-celiac gluten sensitivity (NCGS, n = 9), active CD (aCD, n = 7) and CD on a gluten free diet (GFD, n = 14). Control peptide (CLIP)-loaded Dm were used as background controls. The α-gliadin-Dm:CLIP-Dm ratio was calculated. In CD patients ≥5 years on GFD (n = 8), a randomized two-dose gluten challenge was performed to increase gliadin-specific T-cell frequencies.</div></div><div><h3>Results</h3><div>Gliadin-specific CD4<sup>+</sup> T-cell frequencies were significantly higher in aCD and GFD than in HC and NCGS (p ≤ 0.0001). In CD patients on a GFD ≥5 years, gliadin-specific T-cells were detectable in 6/8 patients after a week gluten challenge, and all tested positive within 4 weeks. Gliadin-specific T-cells significantly upregulated CD38 after 1 week of gluten ingestion (p < 0.008). Real world data from sixteen patients demonstrated the applicability of this test in diagnostic challenging cases.</div></div><div><h3>Conclusions</h3><div>Gliadin-specific T-cells can be detected in peripheral blood of CD patients using commercially available dextramers. These cells persist in CD patients on a GFD but may decline over time. A short term low-dose gluten challenge increased sensitivity. This simplified detection method of gliadin-specific T-cells is suitable for diagnostic challenging CD cases.</div></div>","PeriodicalId":36425,"journal":{"name":"Journal of Translational Autoimmunity","volume":"11 ","pages":"Article 100301"},"PeriodicalIF":3.6,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144721792","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}
Daopo Lin , Jiayue Xu , Mengqian Ye , Luyan Fang , Tianhao Xia , Wenyu Tong , Gokuljayanth Jayaseelan Ranichandra , Yifan Bao , Bo Zheng , Yi Jiang , Lianpin Wu , Dingyuan Hu
{"title":"Matrix remodeling-associated protein 5 as a novel biomarker for predicting disease activity and endoscopic response to infliximab in Crohn's disease","authors":"Daopo Lin , Jiayue Xu , Mengqian Ye , Luyan Fang , Tianhao Xia , Wenyu Tong , Gokuljayanth Jayaseelan Ranichandra , Yifan Bao , Bo Zheng , Yi Jiang , Lianpin Wu , Dingyuan Hu","doi":"10.1016/j.jtauto.2025.100300","DOIUrl":"10.1016/j.jtauto.2025.100300","url":null,"abstract":"<div><div>The primary objective of treating Crohn's disease (CD) is to achieve and sustain endoscopic remission. However, repeated endoscopic examination leads to decreased patient compliance and procedural risks. Non-invasive biomarkers for endoscopic activity of CD are thus promising in clinical use. This study compared proteomic profiles between inflammatory and non-inflammatory intestinal tissues on 10 active CD patients through liquid chromatography–tandem mass spectrometry, and identified 384 differentially expressed proteins. Four candidate secretory proteins (MXRA5, AZU/HBP, CRYAB, DEFA3) were validated via ELISA in serum from 74 CD patients (43 active CD and 31 in remission). Serum MXRA5 levels were notably increased in CD patients in remission compared to active cases (<em>P</em> < 0.001) and showed an inverse correlation with SES-CD scores (r = −0.33, <em>P</em> < 0.05). ROC analysis demonstrated MXRA5's utility in distinguishing endoscopic activity of patients with CD (AUC = 0.80), which was improved when combined with CRP (AUC = 0.89). Besides, higher baseline serum MXRA5 levels predicted better endoscopic response to infliximab (IFX). In conclusion, our study indicates that MXRA5 might serve as a new potential serum biomarker for CD activity and IFX response prediction. Further prospective and muli-center studies are needed to validate its predictive performance.</div></div>","PeriodicalId":36425,"journal":{"name":"Journal of Translational Autoimmunity","volume":"11 ","pages":"Article 100300"},"PeriodicalIF":4.7,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144596127","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}
Wushu Chen , Xingpei Li , Junye Mai , Kailang Tang , Yingqiao Wang , Yan-yan Lu , Jie Liang , Ni-jiao Li , Xiu-Yu Qin , Yu Li , Lunkai Yao , Ye Qiu
{"title":"Hyperimmunoglobulin syndromes: A review of HIGM, HIES, and HIDS","authors":"Wushu Chen , Xingpei Li , Junye Mai , Kailang Tang , Yingqiao Wang , Yan-yan Lu , Jie Liang , Ni-jiao Li , Xiu-Yu Qin , Yu Li , Lunkai Yao , Ye Qiu","doi":"10.1016/j.jtauto.2025.100297","DOIUrl":"10.1016/j.jtauto.2025.100297","url":null,"abstract":"<div><div>At present, there is a lack of detailed understanding and research on the pathogenesis and treatment of Hyperimmunoglobulin M syndrome (HIGM), Hyperimmunoglobulin E syndrome (HIES), and hyperimmunoglobulin D syndrome (HIDS), and few studies have been conducted to correlate the pathogenesis and treatment of the three disorders. The existing studies are rarely related to the three diseases. We searched PubMed for a large number of relevant literature and analyzed and summarized the contents. We analyzed and introduced the three diseases and their Categorization, Epidemiology, Clinical manifestations, Laboratory diagnosis, and Treatment by means of tables and Figures. It is hoped that this analysis and summary can play a certain role in the research and treatment of related diseases and promote the understanding and prevention of related diseases.</div></div>","PeriodicalId":36425,"journal":{"name":"Journal of Translational Autoimmunity","volume":"11 ","pages":"Article 100297"},"PeriodicalIF":4.7,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144556826","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}
Ahamada Elamine , Ibtihal Benhsaien , Fatima Ailal , Abderrahmane Errami , Zakaria Kasmi , Zahra Aadam , Asmaa Drissi Bourhanbour , Ahmed Aziz Bousfiha , Jalila El Bakkouri
{"title":"Autoimmune manifestations in children with inborn errors of immunity in Morocco: A study from the national registry","authors":"Ahamada Elamine , Ibtihal Benhsaien , Fatima Ailal , Abderrahmane Errami , Zakaria Kasmi , Zahra Aadam , Asmaa Drissi Bourhanbour , Ahmed Aziz Bousfiha , Jalila El Bakkouri","doi":"10.1016/j.jtauto.2025.100299","DOIUrl":"10.1016/j.jtauto.2025.100299","url":null,"abstract":"<div><div>Inborn Errors of Immunity (IEI) are a heterogeneous group of genetic disorders characterized by increased susceptibility to infections and immune dysregulation, including autoimmunity and autoinflammation. Despite their clinical significance, data on autoimmune manifestations in Moroccan pediatric patients with IEI remain limited.</div><div>This study aims to investigate the prevalence, spectrum, and clinical patterns of autoimmune manifestations in pediatric patients with IEI in Morocco.</div><div>We conducted a retrospective analysis of pediatric patients registered in the Moroccan IEI registry from January 2007 to December 2023. Demographic, clinical, and laboratory data were extracted, with a particular focus on autoimmune manifestations.</div><div>Among 769 patients registered in the Moroccan IEI registry, 108 (14 %) exhibited at least one autoimmune manifestation. Consanguinity was observed in 59 (55 %) of cases, and the male-to-female ratio was 1.14. The median age at the onset of clinical symptoms was 10 months (2–33 months), and the median age at IEI diagnosis was 30 months (10.5–84 months). A total of 191 autoimmune manifestations were recorded among these patients, with a notable predominance of autoimmune cytopenia (72 %), followed by cutaneous (10 %) and gastrointestinal (9 %) manifestations. Poly-autoimmunity was present in 47.3 % of affected patients. The most frequently associated IEI subtype with these autoimmune manifestations was common variable immunodeficiency (16,7 %).</div><div>Autoimmune manifestations are a frequent complication in Moroccan children with IEI, with autoimmune cytopenias predominating. A high index of suspicion for IEI should be maintained in patients initially presenting with autoimmunity, particularly autoimmune cytopenia. These patients require personalized management due to their higher risk of mortality.</div></div>","PeriodicalId":36425,"journal":{"name":"Journal of Translational Autoimmunity","volume":"11 ","pages":"Article 100299"},"PeriodicalIF":4.7,"publicationDate":"2025-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144490062","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}