Pediatric Rheumatology最新文献

{"title":"Successful treatment of an anti-MDA5 antibody-positive Juvenile Dermatomyositis patient with refractory interstitial lung disease using tofacitinib.","authors":"Valentina Natoli, Serena Palmeri, Ana Isabel Rebollo-Giménez, Caterina Matucci-Cerinic, Paola Bocca, Roberta Caorsi, Stefano Volpi, Riccardo Papa, Alessandro Consolaro, Marco Gattorno, Angelo Ravelli, Silvia Rosina","doi":"10.1186/s12969-024-01044-5","DOIUrl":"https://doi.org/10.1186/s12969-024-01044-5","url":null,"abstract":"","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"23 1","pages":"22"},"PeriodicalIF":2.8,"publicationDate":"2025-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143506030","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical remission rate and drug withdrawal status in articular juvenile idiopathic arthritis.","authors":"Akira Oshima, Takasuke Ebato, Masanori Kaneko, Yoshiaki Shikama, Tomoyuki Imagawa","doi":"10.1186/s12969-025-01075-6","DOIUrl":"10.1186/s12969-025-01075-6","url":null,"abstract":"<p><strong>Background: </strong>The clinical remission rate of articular juvenile idiopathic arthritis (JIA) differs according to the disease categories. At present, there is no consensus regarding drug withdrawal after remission is achieved.</p><p><strong>Objectives: </strong>To clarify the clinical remission rate and drug withdrawal status of patients with juvenile idiopathic arthritis (JIA).</p><p><strong>Methods: </strong>We conducted a retrospective observational study in patients who developed articular JIA by 2017 and were followed up (2013-2022). The Wallace criteria were used as remission criteria.</p><p><strong>Results: </strong>Forty-nine patients were included, i.e., 16 (33%) with polyarticular JIA (PJIA) and 33 (67%) with oligoarticular JIA (OJIA). Rheumatoid factor-positive (RF +) PJIA had significantly higher biological disease-modifying antirheumatic drug (bDMARD) introduction rates (86%, p < 0.01). The rate of clinical remission off medication was significantly higher in OJIA (67%). Numerous cases of RF + PJIA (50%), RF-negative (RF -) PJIA (25%), and OJIA (30%) flared within 2 years after conventional synthetic disease-modifying antirheumatic drug withdrawal. Patients with RF - PJIA and OJIA (two cases each) discontinued bDMARDs. Both RF - PJIA cases (100%) and half of OJIA cases (50%) flared within 2 years after bDMARD withdrawal. In one case of OJIA, remission was maintained after withdrawal of all drugs.</p><p><strong>Conclusions: </strong>OJIA had the highest rate of clinical remission off medication (67%) versus others. In OJIA, it was possible to discontinue all drugs in some patients with OJIA receiving bDMARDs. In PJIA requiring bDMARDs, withdrawal of bDMARDs was difficult all two cases.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"23 1","pages":"21"},"PeriodicalIF":2.8,"publicationDate":"2025-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143494842","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mortality in children and adolescents with autoimmune inflammatory rheumatic diseases admitted to the pediatric intensive care unit.","authors":"Tinnapat Buranapattama, Suwannee Phumeetham, Nuntawan Piyaphanee, Maynart Sukharomana, Sirirat Charuvanij","doi":"10.1186/s12969-025-01068-5","DOIUrl":"10.1186/s12969-025-01068-5","url":null,"abstract":"<p><strong>Background: </strong>This study aimed to describe the characteristics and outcomes of children and adolescents with autoimmune inflammatory rheumatic diseases (AIIRD) who were admitted to the pediatric intensive care unit (PICU). The accuracy of the Pediatric Risk of Mortality (PRISM) III and Pediatric Index of Mortality (PIM) 3 scores to predict the mortality were investigated.</p><p><strong>Methods: </strong>This was a retrospective cohort study. Children and adolescents with AIIRD aged ≤ 18 years who were admitted to the PICU at the largest university-based referral center in Thailand during July 2011 to June 2021 were included.</p><p><strong>Results: </strong>There were 122 PICU admissions from 74 patients; mean age of 12.0 ± 4.3 years, 74.3% female. Majority of AIIRD were systemic lupus erythematosus (SLE) (83.8%), followed by systemic juvenile idiopathic arthritis (5.4%), juvenile dermatomyositis (JDM) (2.7%) and microscopic polyangiitis (2.7%). The main cause of admission was combined infection and disease flare (29.5%). Pneumonia was the main site of infection. Acinetobacter baumanii was the most common causative agent. Macrophage activation syndrome occurred in 8 (6.5%) admissions. The mortality rate of PICU admissions was 14.8% from 18 deaths; 17 with SLE and 1 with JDM. Mechanical ventilation (aOR 24.07, 95%CI:1.33-434.91, P= 0.031), pneumothorax (aOR 24.08, 95%CI:1.76-328.86, P = 0.017 and thrombocytopenia (aOR 8.34, 95%CI:1.31-53.73, P = 0.025) were associated with mortality. The risk of mortality rate as predicted by the PRISM III score increased with a score ≥ 9. For the PIM 3 score, the risk of mortality increased if the score ≥ 3. The area under the ROC curve for the PRISM III and PIM 3 scores was 0.741 (95%CI: 0.633-0.849), P = 0.001 and 0.804 (95%CI: 0.685-0.924), P < 0.001, respectively. The model calibration using the Hosmer-Lemeshow goodness of fit test demonstrated a chi-square of 4.335, P = 0.826 for PRISM III and 7.987, P = 0.435 for PIM 3.</p><p><strong>Conclusion: </strong>SLE was the main AIIRD that required admission to the PICU. Mechanical ventilation, pneumothorax and thrombocytopenia were associated with mortality in pediatric patients with AIIRD. The PRISM III and PIM 3 scores demonstrated good calibration, while the PIM 3 score provided better discrimination ability in the prediction of mortality for pediatric AIIRD.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"23 1","pages":"20"},"PeriodicalIF":2.8,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11843957/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143470227","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"What have we learned from long-term studies in juvenile idiopathic arthritis? - Prediction, classification, transition.","authors":"Marite Rygg, Filipa Oliveira Ramos, Ellen Berit Nordal","doi":"10.1186/s12969-025-01070-x","DOIUrl":"10.1186/s12969-025-01070-x","url":null,"abstract":"<p><strong>Background: </strong>Research and management of juvenile idiopathic arthritis (JIA) are challenging due to its heterogeneous nature, chronicity, and unpredictable, multidimensional long-term outcomes.</p><p><strong>Main body: </strong>Long-term studies have consistently shown that a majority of children with JIA reach adulthood with ongoing disease activity, on medication, or with recurrent flares. The heterogeneity is evident both between and within the present JIA categories based on The International League of Associations for Rheumatology (ILAR) JIA classification system. Several baseline predicting factors are known, but prediction modelling is only in the initial phase, and more models need to be tested in independent cohorts and possibly also supplemented with new biomarkers. Many have criticized the ILAR classification system, but new or updated classification systems have not yet been validated and proved their superiority. The lack of prediction possibilities for long-term outcomes and the limited alignment between JIA classification categories and adult rheumatic conditions are challenges for research, may limit the accessibility to treatment, and hamper a smooth transition to adult care.</p><p><strong>Conclusion: </strong>We need more prospective, long-term studies based on unselected JIA cohorts with disease onset in the biologic era that can aid decision-making for individualized early treatment, suggest intervention studies, and ensure our patients the best possible transition to adulthood and the best likelihood of optimal health and quality of life.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"23 1","pages":"18"},"PeriodicalIF":2.8,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11841258/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143460753","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Safety and effectiveness of intravenous abatacept for polyarticular-course juvenile idiopathic arthritis: An all-case postmarketing surveillance study.","authors":"Tomo Nozawa, Naomi Iwata, Toru Igarashi, Ichiro Kobayashi, Shoji Ota, Takako Yamada, Etsuya Bando, Katsuyoshi Habiro, Syuji Takei","doi":"10.1186/s12969-025-01069-4","DOIUrl":"10.1186/s12969-025-01069-4","url":null,"abstract":"<p><strong>Background: </strong>In 2018, intravenous abatacept was approved for the treatment of refractory polyarticular-course juvenile idiopathic arthritis (JIA) in Japan. However, reports describing the effectiveness and safety of abatacept in clinical practice in Japanese patients with refractory polyarticular-course JIA are limited. Therefore, this postmarketing surveillance study aimed to evaluate the real-world safety and effectiveness of abatacept in Japanese pediatric patients with refractory polyarticular-course JIA.</p><p><strong>Methods: </strong>This study evaluated patients included in an all-case postmarketing surveillance study between February 2018 and August 2020 who were treated with intravenous abatacept. Data on the safety and effectiveness of the registered patients were collected during the 52-week follow-up period. Disease activities were evaluated using Juvenile Arthritis Disease Activity Score 27 (JADAS-27). The effect of abatacept on a child's growth was assessed using the height and weight standard deviation scores (SDS).</p><p><strong>Results: </strong>A total of 82 patients were registered in this study, of whom 14.6% and 85.4% were males and females, respectively. The proportion of patients with oligoarticular, rheumatoid factor (RF)-negative polyarticular, and RF-positive polyarticular JIA was 12.2, 28.0, and 54.9%, respectively. The incidence of adverse drug reactions (ADRs) and serious ADRs was 22.0% and 2.4%, respectively. During the study period, 64.7% of the patients achieved JADAS-27 low disease activity or less. A significant difference in JADAS-27 scores in patients with RF-positive polyarticular JIA was observed between baseline and 24 or 52 weeks after abatacept administration. The height and weight SDS tended to improve during abatacept treatment.</p><p><strong>Conclusions: </strong>Abatacept is effective in polyarticular-course JIA, particularly in RF-positive patients, and in restoring a child's growth. Additionally, the incidence of ADRs is similar to that observed in the clinical trial. The results of the study suggest that abatacept is a useful therapeutic option for treating refractory polyarticular-course JIA in real-world settings in Japan.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"23 1","pages":"19"},"PeriodicalIF":2.8,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11841336/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143460631","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fasciitis-panniculitis syndrome with autoantibodies reacting to adipocyte pericellular fibers: a case report.","authors":"Yu Uehara, Takuji Enya, Kohei Miyazaki, Yoshiyuki Hakata, Sachiyo Kawahara, Masaaki Miyazawa, Keisuke Sugimoto","doi":"10.1186/s12969-025-01071-w","DOIUrl":"10.1186/s12969-025-01071-w","url":null,"abstract":"<p><strong>Background: </strong>Fasciitis-panniculitis syndrome (FPS) typically presents with swelling and skin hardening. Its histopathological characteristics include inflammatory cell infiltration and fibrous thickening of the subcutaneous tissue and fascia. Panniculitides in children are rare and only a small number of juvenile FPS cases have been reported. We encountered a case of a 10-year-old boy in which autoantibodies reactive to adipocyte pericellular fibers were detected in relapsing FPS.</p><p><strong>Case presentation: </strong>The patient developed a high fever and skin swelling with pain and erythema on the right side of his body following an abrasion injury on his right wrist at the age of 5 years, and was suspected of having streptococcal toxic shock-like syndrome, for which he received antimicrobials, immunoglobulin therapy, debridement, and plasma exchange. The same manifestations with similar magnetic resonance imaging (MRI) findings of high signal on short tau inversion recovery showing the spread of inflammation in the fat tissue and fascia was observed twice at the age of 6 years. Serological analyses for conventional autoantibodies, bone marrow aspiration, and whole-exome sequencing examination were non-remarkable. Prednisolone was effective in ameliorating the above putative autoinflammatory syndrome. The patient was admitted at the age of 10 years with similar clinical and MRI findings indicative of recurrence of the same disease. En bloc biopsy from the skin to the fascia showed thickening of collagen fibers, infiltration of inflammatory cells composed mainly of neutrophils and lymphocytes, and necrotizing vasculitis in the fat tissue and fascia. Immunohistochemical staining of the en bloc biopsy sections indicated infiltration of T lymphocytes and macrophages in the perivascular connective tissue and fibrinoid necrosis, supporting the diagnosis of FPS. Induction therapy with prednisolone resulted in a remission. IgG purified from the patient's serum reacted with pericellular basement membranes in the subcutaneous fat tissue by immunohistochemistry. The patient is currently taking famotidine to prevent relapses and is making good progress in his recovery.</p><p><strong>Conclusions: </strong>Although pathogenic autoantibodies have not been described in FPS, our results suggest that fat-tissue-reactive autoantibodies may be involved in the pathogenesis of FPS.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"23 1","pages":"17"},"PeriodicalIF":2.8,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11834650/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143450798","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Infant Kawasaki disease complicated with supraventricular tachycardia: a case report and literature review.","authors":"Nanjun Zhang, Bowen Li, Yu Yan, Shuran Shao, Yimin Hua, Hongyu Duan, Kaiyu Zhou, Chuan Wang, Xiaoliang Liu","doi":"10.1186/s12969-025-01061-y","DOIUrl":"10.1186/s12969-025-01061-y","url":null,"abstract":"<p><strong>Background: </strong>The occurrence of arrhythmias as a complication of Kawasaki disease (KD) is extremely rare. Moreover, previous literature showed a low incidence of arrhythmias during the acute phase of KD, and the majority occurred in the subacute and chronic phases. To date, we have found only 17 sporadically reported global cases in the available literature.</p><p><strong>Case presentation: </strong>We present the first documented case of an infant with KD complicated with supraventricular tachycardia (Atrioventricular reentrant tachycardia) during the acute phase. The arrhythmia resolved promptly after the combination therapy of intravenous Immunoglobulin (IVIG) and steroids during the acute phase since the inflammation subsided. Additionally, we conducted a review and summary of cases involving KD-related arrhythmias.</p><p><strong>Conclusions: </strong>KD rarely causes arrhythmias, which might be associated with myocarditis and myocardial ischemia attributed to scar formation and/or excessive inflammatory factors damaging the conduction system. Strengthening the early identification and management of complications in patients with KD and personalized follow-up strategies for high-risk children during the chronic phase can enhance patients' prognosis.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"23 1","pages":"16"},"PeriodicalIF":2.8,"publicationDate":"2025-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11823250/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143411404","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Depression and anxiety in childhood-onset systemic lupus erythematosus: prevalence, associated factors, and impact on quality of life and family.","authors":"Pitsamai Duangmala, Watchareewan Sontichai","doi":"10.1186/s12969-025-01067-6","DOIUrl":"10.1186/s12969-025-01067-6","url":null,"abstract":"<p><strong>Background: </strong>Depression and anxiety are common psychiatric manifestations in childhood-onset systemic lupus erythematosus (cSLE). This study aimed to determine the prevalence of clinically significant depression and anxiety, identify associated factors, and assess their impact on health-related quality of life (HRQOL) and family in patients with cSLE.</p><p><strong>Methods: </strong>We conducted a cross-sectional study of cSLE patients, aged 8-18 years. Patients completed the Children's Depression Inventory (CDI), Screening for Child Anxiety Related Disorders (SCARED), Pediatric Quality of Life Inventory Generic Core Scale (PedsQL-GC), and Visual Analog Scale of pain intensity. Their parents completed the Pediatric Quality of Life Family Impact module (PedsQL family impact).</p><p><strong>Results: </strong>Of 91 patients, the median disease duration was 3.4 years (IQR 3.5), and the median SLE disease activity index 2000 score was 2 (IQR 6). The prevalence of clinically significant depression (CDI > 15) and clinically significant anxiety (SCARED ≥ 25) were 31.9% and 49.5%, respectively. Coexisting clinically significant depression and anxiety were found in 26 patients (28.6%). In multivariable analyses, older age at diagnosis was associated with clinically significant depression (OR 1.56, 95% CI 1.12-2.16, p = 0.008), while organ damage (OR 4.27, 95% CI: 1.19-15.31, p = 0.026) and pain score (OR 1.61, 95% CI: 1.11-2.32, p = 0.012) were associated with clinically significant anxiety. Patients with clinically significant depression or anxiety had significantly lower PedsQL-GC and PedsQL family impact scores compared to those without these symptoms.</p><p><strong>Conclusions: </strong>These results suggest that depression and anxiety are prevalent in cSLE and have negative impacts on HRQOL and family. Physicians should be aware of the presence of these psychological symptoms, particularly in patients with risk factors. Providing psychological counseling and prompt referral to psychiatrists could enhance HRQOL and family functioning.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"23 1","pages":"15"},"PeriodicalIF":2.8,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11816805/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143400478","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An updated overview of Juvenile systemic sclerosis in a French cohort.","authors":"Léa Jacquel, Rouba Bechara, Joëlle Terzic, Anne-Cécile Rameau, Emmanuel Chatelus, Linda Rossi-Semerano, Isabelle Kone-Paut, Ulrich Meinzer, Irène Lemelle, Charlotte Rebelle, Diego Urbina, Pascal Pillet, Pauline Choquet, Jad El Maamari, Ariane Zaloszyc","doi":"10.1186/s12969-024-01043-6","DOIUrl":"10.1186/s12969-024-01043-6","url":null,"abstract":"<p><strong>Background: </strong>Systemic sclerosis encompasses a range of disorders characterized by vascular and connective tissue abnormalities. Although rare in pediatrics, juvenile systemic sclerosis (jSSc) is a severe and life-threatening condition that significantly impacts children's development. This study aimed to provide an overview of JSSc in France over the past decade.</p><p><strong>Methods: </strong>Patients with disease onset before the age of 16 were included following a request for observations sent via email to member practitioners of the SOFREMIP (French pediatric Rheumatology society).</p><p><strong>Results: </strong>Our study included 18 patients from 8 different French centers. While our cohort exhibited a balanced distribution between limited and diffuse subsets of the disease, we observed a higher prevalence of the diffuse subset in children above the age of 10. Skin induration was the most reported symptom, while Raynaud's phenomenon was present in 61% of the children at initial clinical evaluation. All children tested positive for antinuclear antibodies, with anti-Scl70 being the most common specificity, even among children with limited cutaneous subsets. Interestingly, we found a high sensitivity of the ACR / EULAR criteria for diagnosing jSSc in our cohort with 83% of patients meeting these criteria, except for 3 children who presented with overlap syndromes. Despite the frequent use of corticosteroids at the onset, no deaths or renal crises were reported. Three patients received treatment with biological agents, specifically Rituximab and Tocilizumab.</p><p><strong>Conclusion: </strong>JSSc is a rare but severe disease requiring rapid, specialized, and multidisciplinary care. Further studies are needed to validate proper diagnosis criteria including overlap syndromes and evaluate the use of biotherapies in children.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"23 1","pages":"13"},"PeriodicalIF":2.8,"publicationDate":"2025-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11807294/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143374780","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Lack of HLH in FMF.","authors":"Ozge Basaran, Erdal Sag, Elif Arslanoglu Aydın, Busra Aydın, Nur Kübra Tasdemir, Elif Celikel, Yagmur Bayındır, Semanur Özdel, Yelda Bilginer, Alexei A Grom, Seza Ozen","doi":"10.1186/s12969-025-01064-9","DOIUrl":"10.1186/s12969-025-01064-9","url":null,"abstract":"<p><strong>Background: </strong>Macrophage activation syndrome (MAS) is a severe complication of systemic juvenile idiopathic arthritis (sJIA), driven by excessive activation of T cells and macrophages, resulting in a cytokine storm. IFN-γ and IL-18 play crucial roles, with monocyte and macrophage hyperresponsiveness to IFN-γ amplifying MAS-related inflammation. Familial Mediterranean Fever (FMF), an autosomal recessive disease, is characterized by recurrent fever episodes due to MEFV gene mutations. Despite intense inflammation in FMF, MAS is rare. This study aimed to compare in vitro responsiveness of peripheral blood mononuclear cells (PBMCs) to IFN-γ between sJIA/MAS and FMF patients.</p><p><strong>Methods: </strong>Five sJIA/MAS and five FMF patients were included. PBMCs were stimulated in vitro with IFN-γ for 45 min. Levels of IFN-γ-induced chemokines CXCL9, CXCL10, and IL-18 in supernatants were measured using cytometric bead arrays before and after stimulation.</p><p><strong>Results: </strong>PBMCs from MAS patients produced higher baseline CXCL9 levels compared to FMF patients in a flare, with differences increasing post-IFN-γ stimulation. IFN-γ stimulation also upregulated IL-18 production in MAS patients but not in FMF patients.</p><p><strong>Conclusion: </strong>Enhanced responsiveness to IFN-γ distinguishes sJIA/MAS from FMF patients, which may explain the lower occurrence of MAS in FMF.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"23 1","pages":"14"},"PeriodicalIF":2.8,"publicationDate":"2025-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11807302/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143374713","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}