Archives of rheumatology最新文献

{"title":"Analysis of proinflammatory cytokine responses in Takayasu arteritis.","authors":"Rabia Deniz, Aysın Tulunay-Virlan, Filiz Ture Ozdemir, Ali Ugur Unal, Gulsen Ozen, Fatma Alibaz-Oner, Imren Aydin-Tatli, Haner Direskeneli","doi":"10.46497/ArchRheumatol.2024.10790","DOIUrl":"10.46497/ArchRheumatol.2024.10790","url":null,"abstract":"<p><strong>Objectives: </strong>This study aimed to investigate the expression of proinflammatory cytokines under long-term T helper (Th) 17 cell inducing conditions in Takayasu arteritis (TAK), a granulomatous vasculitis with adaptive immune responses.</p><p><strong>Patients and methods: </strong>This cross-sectional study was conducted between May 2014 and April 2017. Peripheral blood mononuclear cells from 25 patients (23 females, 2 males; mean age: 42.7±15.5 years; range, 20 to 69 years) with TAK and 25 healthy controls (HCs; 11 females, 14 males; mean age: 39.1±9.3 years; range, 21 to 64 years) were cultured in Th17 cell-inducing conditions for six days. Cultured cells were stained with conjugated monoclonal antibodies to determine the intracellular cytokine secretion by flow cytometry. Supernatant samples were measured with sandwich enzyme-linked immunosorbent assay for interferon-gamma (IFN-γ), interleukin (IL)-17, IL-7, IL-21, and IL-22 levels.</p><p><strong>Results: </strong>Under Th17 cell-inducing conditions, IFN-γ secretion was significantly higher in the TAK group compared to HCs (p<0.005). Unstimulated serum cytokine levels showed no differences between the TAK and HC groups, except for IL-7. Both IL-17 and IFN-γ secretion showed significant increases in TAK and IL-17 secretion in HCs in comparison of unstimulated and stimulated samples for each individual (p values, 0.022, 0.005, and 0.016, respectively). The production of IL-17 and IFN-γ by CD4⁺ , CD8⁺ , and γδ⁺ T cells and B cells was not found to be significantly different between TAK patients and HCs. No differences were observed between the subgroups of TAK according to disease activity or treatment in IL-17 and IFN-γ production.</p><p><strong>Conclusion: </strong>This study supports cell-mediated cytotoxicity as the main pathogenetic mechanism of TAK. T cells express higher levels of IFN-γ in TAK but not IL-17. Supernatant analysis indicated significantly higher IFN-γ production, which significantly increased after induction, suggesting the contribution of different inflammatory cells (probably CD8⁺ and γδ⁺ T cells) to IFN-γ production in TAK.</p>","PeriodicalId":93884,"journal":{"name":"Archives of rheumatology","volume":"39 4","pages":"598-606"},"PeriodicalIF":1.1,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11883268/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143588685","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diastolic dysfunction in Behçet's disease and its relationship with clinical manifestations of the disease: A case-control study.","authors":"Gizem Varkal, Rabia Eker Akıllı, İpek Türk, Zeynep Tüzün, Burak Mete, Süleyman Özbek","doi":"10.46497/ArchRheumatol.2024.10772","DOIUrl":"10.46497/ArchRheumatol.2024.10772","url":null,"abstract":"<p><strong>Objectives: </strong>The study aimed to evaluate the frequency of diastolic dysfunction (DD) in patients with Behçet's disease (BD) and its relationship with clinical manifestations.</p><p><strong>Patients and methods: </strong>Seventy patients (35 females, 35 males; mean age: 39.3±11.0 years; range, 21 to 61 years) with BD and 50 healthy controls (27 females, 23 males; mean age: 38.8±10.0 years; range, 23 to 62 years) were included in the case-control study between October 2023 and December 2023. Age, sex, smoking status, disease duration, mucocutaneous involvement, other organ involvement, treatment received of the patients were recorded. The E/A ratio (the ratio of early diastolic wave to the atrial wave) and the E/E' ratio (the ratio of early transmitral filling velocity to early diastolic mitral annular velocity), which are markers of DD, were measured by transthoracic echocardiography.</p><p><strong>Results: </strong>Diastolic dysfunction was observed in 27.1% (n=19) of BD patients and 8% (n=4) of healthy controls (p=0.017). Male dominance was observed in patients with major organ involvement (MOI) compared to patients with isolated mucocutaneous involvement (p=0.001). While MOI was observed at a rate of 65.7%, ocular involvement, among the MOIs, constituted 52.9% of all BD patients. The percentage of patients with a mitral E/A ratio <1 was similar between the MOI and isolated mucocutaneous involvement groups. However, vascular involvement was observed in 47.4% of BD patients with a mitral E/A ratio <1 (p=0.034). In addition, it was observed that the group with a mitral E/A ratio <1 was older, had a longer disease duration, and had a higher erythrocyte sedimentation rate.</p><p><strong>Conclusion: </strong>Diastolic dysfunction is an early sign of cardiac involvement, and prolonged vascular involvement in BD increases the risk of DD.</p>","PeriodicalId":93884,"journal":{"name":"Archives of rheumatology","volume":"39 4","pages":"624-630"},"PeriodicalIF":1.1,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11883252/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143588737","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Difficult-to-treat axial spondyloarthritis patients.","authors":"Tahir Saygın Öğüt, Funda Erbasan, Mehmet Fatih Şahiner, Mine Nokay, Ayşe Yörük Öğüt, Melis Dilbil, Mustafa Ender Terzioğlu, Veli Yazısız","doi":"10.46497/ArchRheumatol.2024.10567","DOIUrl":"10.46497/ArchRheumatol.2024.10567","url":null,"abstract":"<p><strong>Objectives: </strong>This study aimed to formulate D2T (difficult to treat) criteria for axial spondyloarthritis (AxSpA) patients and identify the prevalence of D2T patients and their characteristics.</p><p><strong>Patients and methods: </strong>The cross-sectional study was conducted with 166 AxSpA patients (93 males, 73 females; mean age: 47.1±12.9 years; range, 19 to 78 years) between February 2023 and March 2023. The criteria were based on patients treated according to the European Alliance of Associations for Rheumatology (EULAR) recommendations for AxSpA. Entry criteria were treatment failure to ≥2 biological/targeted synthetic disease-modifying antirheumatic drugs with two different mechanisms of action or ≥3 biological/targeted synthetic disease-modifying antirheumatic drugs. Potential preliminary factors for D2T criteria were analyzed, and the characteristics of the subjects matching D2T criteria were compared with those of others.</p><p><strong>Results: </strong>One hundred forty-two ankylosing spondylitis patients and 24 nonradiographic AxSpA patients were included in the study. The rate of fulfilling the D2T criteria was 22.9% (n=38) among AxsPA patients treated with biological agents. The potential D2T criteria were met by 23.2% of ankylosing spondylitis and 20.8% of nonradiographic AxSpA patients. Baseline characteristics, such as sex, age, diagnosis age, occupation, and education, of D2T patients were not statistically different from other patients. The prevalence of fibromyalgia was higher in D2T patients (p<0.001). Disease activity indices and acute phase response indicators were higher and quality of life was worse in D2T patients.</p><p><strong>Conclusion: </strong>There was a considerable amount of AxSpA patients fulfilling the D2T criteria despite new and effective treatment agents.</p>","PeriodicalId":93884,"journal":{"name":"Archives of rheumatology","volume":"39 3","pages":"419-428"},"PeriodicalIF":1.1,"publicationDate":"2024-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11537689/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142592326","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Is the development of arrhythmia predictable in rheumatoid arthritis?","authors":"Arif Gülkesen, Emine Yıldırım Uslu, Gürkan Akgöl, Gökhan Alkan, Mehmet Ali Kobat, Mehmet Ali Gelen, Muhammed Fuad Uslu","doi":"10.46497/ArchRheumatol.2024.10590","DOIUrl":"10.46497/ArchRheumatol.2024.10590","url":null,"abstract":"<p><strong>Objectives: </strong>This study aimed to determine whether there is a difference in the electrocardiography (ECG) measurements of healthy controls and rheumatoid arthritis (RA) patients and to predict whether they can be used to determine the risk of arrhythmia in patients.</p><p><strong>Patients and methods: </strong>The prospective study included 50 cardiac asymptomatic RA patients (38 males, 12 females; mean age: 46.8±9.1 years; range, 18 to 60 years) who met the 2010 American College of Rheumatology/European Alliance of Associations for Rheumatology RA criteria and 50 healthy volunteers (34 males, 16 females; mean age: 43.4±10.4 years; range, 18 to 60 years) as a control group between June 1, 2022, and August 31, 2022. Disease activity of the patients was calculated with the Disase Activity Score (DAS28). Heart rate, minimum and maximum QT intervals, QT dispersion, minimum and maximum P waves, P wave dispersion (Pd), minimum and maximum Tp-e intervals, Tp-e dispersion, minimum and maximum corrected QT (QTc) intervals, QTc dispersion, and the Tp-e/QTc ratio in ECGs were calculated.</p><p><strong>Results: </strong>The mean disease duration of the RA group was 9.09±5.74 years. The mean C-reactive protein level was 9.83±8.29, the mean erythrocyte sedimentation rate was 26.12±16.28 mm/h, and the mean DAS28 was 3.03±0.37. There was a statistically significant increase in the maximum P wave, Pd, maximum QT, QT dispersion, maximum QTc, QTc dispersion, maximum Tp-e, Tp-e dispersion, and Tp-e/QTc dispersion parameters in the RA group compared to the control group, while there was a significant decrease in the minimum P wave, minimum QT, and minimum QTc parameters.</p><p><strong>Conclusion: </strong>In our study, the Pd, QTc dispersion, Tp-e dispersion, and Tp-e/QTc dispersion values of our patients, which indicate the risk of atrial and ventricular arrhythmia, were found to be significantly higher. This finding suggests that our patients had an increased risk of cardiac morbidity and mortality. Arrhythmias are the likely source of the increase in sudden cardiac death in RA, and these new indicators measured on ECG can be used as standardized cardiovascular morbidity and mortality indicators in the future.</p>","PeriodicalId":93884,"journal":{"name":"Archives of rheumatology","volume":"39 3","pages":"429-435"},"PeriodicalIF":1.1,"publicationDate":"2024-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11537683/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142592339","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neuropathic component of chronic musculoskeletal pain in patients with post-COVID-19: A cross-sectional study.","authors":"Sevgi Gümüş Atalay, Pınar Borman, Ayşegül Yaman, Evren Yaşar","doi":"10.46497/ArchRheumatol.2024.9990","DOIUrl":"10.46497/ArchRheumatol.2024.9990","url":null,"abstract":"<p><strong>Objectives: </strong>This study aimed to evaluate the neuropathic component of chronic musculoskeletal pain in post-coronavirus disease 2019 (COVID-19) and examine the relationship between neuropathic pain and clinical and demographic characteristics.</p><p><strong>Patients and methods: </strong>This cross-sectional study included 163 adult patients (85 females, 78 males; mean age: 41.7±4.3 years; range, 22 to 50 years) with post-COVID-19 musculoskeletal pain between February 1, 2021, and April 30, 2021. Demographic and clinical characteristics, including age, sex, affected site, duration, and severity of post-COVID-19 musculoskeletal pain using the Visual Analog Scale (VAS), as well as a neuropathic component of pain using the Leeds assessment of neuropathic symptoms and signs (LANSS), were collected. The most common post-COVID-19 symptoms, presence of hospitalization, and length of hospital stay during active COVID-19 infection were recorded from the patient records.</p><p><strong>Results: </strong>The mean duration and severity of pain were 7.85±1.53 months and 5.09±1.95, respectively. Half of the patients were hospitalized, and the mean length of hospital stay was 12.15±18.06 days. The most common pain sites were upper and lower back pain, followed by leg and arm pain. A total of 92 (56.4%) patients had previously received pharmacological or nonpharmacological treatment for post-COVID-19 musculoskeletal pain. Based on the LANSS (scores >12), 31 (19%) patients had neuropathic pain. There was a significant correlation between the presence of neuropathic pain and pulmonary involvement/symptoms. The presence and length of hospital stay were correlated with LANNS scores (p<0.05). The frequency, LANSS scores, and VAS-pain scores of the patients with and without neuropathic pain were similar between male and female patients (p>0.05).</p><p><strong>Conclusion: </strong>The neuropathic component of chronic musculoskeletal pain may be common, as one-fifth of our patients had neuropathic pain as assessed by the LANNS. Therefore, the awareness of post-COVID-19 chronic neuropathic musculoskeletal pain should be increased. We believe that focusing on the identification of pain phenotypes would provide adequate and tailored chronic neuropathic musculoskeletal pain management in the post-COVID-19 period.</p>","PeriodicalId":93884,"journal":{"name":"Archives of rheumatology","volume":"39 3","pages":"436-446"},"PeriodicalIF":1.1,"publicationDate":"2024-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11537687/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142592340","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sixth cranial nerve palsy in giant cell arteritis: A systematic review.","authors":"Haruki Sawada, Yoshito Nishimura, Hiromichi Tamaki","doi":"10.46497/ArchRheumatol.2024.10528","DOIUrl":"10.46497/ArchRheumatol.2024.10528","url":null,"abstract":"<p><strong>Objectives: </strong>This study aimed to review and describe isolated sixth cranial nerve or abducens nerve palsy that may present with subtle ophthalmoplegia in patients with giant cell arteritis (GCA).</p><p><strong>Materials and methods: </strong>In this systematic review following the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) Extension for Scoping Reviews, MEDLINE and EMBASE were searched for all peer-reviewed articles using the keywords \"cranial nerve six,\" \"abducens nerve,\" and \"giant cell arteritis\" from their inception to December 22, 2022.</p><p><strong>Results: </strong>Twenty-five articles, including seven observational studies and 18 cases, were included. While the incidence and prevalence of sixth nerve palsy in GCA were variable, up to 48% of diplopia in GCA were attributed to the sixth cranial nerve palsy, according to the observational studies included. While 88.2% had a resolution of symptoms with 40-50 mg/day of prednisone-equivalent corticosteroids, it took a median of 24.5 days until the resolution of symptoms from the initiation of treatment.</p><p><strong>Conclusion: </strong>This review summarizes the current understanding of the characteristics of sixth nerve palsy in GCA. While most patients may have reversible clinical courses, a few can suffer from persistent ophthalmoplegia, which is a potentially missed yet crucial clinical finding in GCA. Increased awareness of the sixth nerve palsy in GCA is crucial.</p>","PeriodicalId":93884,"journal":{"name":"Archives of rheumatology","volume":"39 3","pages":"479-487"},"PeriodicalIF":1.1,"publicationDate":"2024-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11537682/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142592365","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Novel use of interleukin-1 antagonists in male familial Mediterranean fever patients with infertility: Case series.","authors":"Bugra Egeli, Kerem Parlar, Basak Filiz, Ibrahim Durucan, Serdal Ugurlu","doi":"10.46497/ArchRheumatol.2024.10269","DOIUrl":"10.46497/ArchRheumatol.2024.10269","url":null,"abstract":"","PeriodicalId":93884,"journal":{"name":"Archives of rheumatology","volume":"39 3","pages":"474-475"},"PeriodicalIF":1.1,"publicationDate":"2024-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11537677/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142592343","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Validity and reliability of the Turkish version of Exercise Benefits/ Barriers Scale: Perceived exercise benefits and barriers of patients with different axial spondyloarthritis subtypes.","authors":"Devrim Can Sarac, Elif Durak Ediboglu, Derya Ozer Kaya, Gozde Duran, Emre Alp Akatay, Sercan Gucenmez, Servet Akar, Deniz Bayraktar","doi":"10.46497/ArchRheumatol.2024.10720","DOIUrl":"10.46497/ArchRheumatol.2024.10720","url":null,"abstract":"<p><strong>Objectives: </strong>The aim of this study was to translate the Exercise Benefits/Barriers Scale (EBBS) into Turkish and investigate the perceptions of Turkish-speaking patients with different axial spondyloarthritis (axSpA) subtypes regarding exercise benefits and barriers.</p><p><strong>Patients and methods: </strong>This validation study was conducted between June 2018 and December 2021. Patients with axSpA were consecutively assessed regarding physical (age, sex and body mass index) and disease-related characteristics (disease activity, spinal mobility, functional status, quality of life, health status, emotional status, and kinesiophobia). Eligible participants were asked to complete the EBSS and other outcome measurements during their initial visits. EBBS was readministered 7 to 14 days later.</p><p><strong>Results: </strong>One hundred forty-eight patients (89 males, 59 females; mean age: 44.3±11.8 years; range, 19 to 65 years) were included in the study. Of the patients, 108 had radiographic axSpA, and 40 had nonradiographic axSpA. EBBS-Barriers and EBBS-Benefits subscales demonstrated adequate internal consistency (Cronbach's alphas of 0.82 and 0.95, respectively) and test-retest reliability (intraclass correlation coefficients of 0.837 and 0.807, respectively). No significant differences were observed between axSpA subtypes regarding EBBS-Barriers (p=0.12) and EBBS-Benefits (p=0.10) subscales. Significant relationships were detected between kinesiophobia and EBBS-Barriers scores (r=-0.424, p<0.01), as well as EBBS-Benefits scores (r=-0.344, p<0.01) for all patients. EBBS-Benefits scores were correlated to health status (r=-0.412, p=0.08) and quality of life (r=-0.394, p=0.01) in patients with nonradiographic axSpA.</p><p><strong>Conclusion: </strong>According to our results, the Turkish EBBS is a valid and reliable tool for patients with axSpA. Perceptions of the patients with axSpA regarding exercise barriers and benefits do not differ according to the disease subtype. It appears that kinesiophobia may be an important parameter regarding exercise perception in axSpA.</p>","PeriodicalId":93884,"journal":{"name":"Archives of rheumatology","volume":"39 3","pages":"447-458"},"PeriodicalIF":1.1,"publicationDate":"2024-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11537679/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142592379","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The hidden oncological challenge in Sjögren's syndrome with a focus on pharyngeal cancer.","authors":"Wan-Hee Yoo, Kyoung Min Kim, Yunjung Choi","doi":"10.46497/ArchRheumatol.2024.10748","DOIUrl":"10.46497/ArchRheumatol.2024.10748","url":null,"abstract":"","PeriodicalId":93884,"journal":{"name":"Archives of rheumatology","volume":"39 3","pages":"471-473"},"PeriodicalIF":1.1,"publicationDate":"2024-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11537693/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142592375","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"New and future perspectives in familial Mediterranean fever and other autoinflammatory diseases.","authors":"Veysel Çam, Hülya Ercan Emreol, Seza Ozen","doi":"10.46497/ArchRheumatol.2024.10911","DOIUrl":"10.46497/ArchRheumatol.2024.10911","url":null,"abstract":"<p><p>Systemic autoinflammatory diseases are a group of disorders characterized by sterile episodes of inflammation resulting from defects in the innate immune system. In contrast to classical autoimmune diseases, where circulating autoantibodies and the adaptive immune system are involved, these conditions involve excessive presence of proinflammatory cytokines leading to inflammatory attacks. Excessive cytokine production, functional mutations in regulatory pathways, excessive interferon production, defects in the nuclear factor-kappa B signaling pathway, abnorARCHmal protein folding, and complement activation are the mechanisms leading to autoinflammatory diseases. A defect in the mTOR pathway and trained immunity are newly discovered possible causes in pathogenesis. Early onset and severe forms of classical rheumatological diseases have been more frequently associated with autoinflammatory diseases in the last decade. Therefore, monogenic autoinflammatory diseases should be considered in rheumatic diseases with family history, consanguinity, early onset, and severe disease. The combination of functional and genotyping research will help to identify unclassified patients. The optimal treatment strategy remains uncertain, functional studies such as interferon signature and cytokine profiling, may prove valuable in guiding the treatment process. Stem cell transplantation strategies in autoinflammatory diseases with partial response to biological therapies can be considered. Autoinflammatory diseases are becoming increasingly complex and are bringing new perspectives to already known rheumatic diseases. Although we have effective treatments, we are still far from personalized recommendations.</p>","PeriodicalId":93884,"journal":{"name":"Archives of rheumatology","volume":"39 3","pages":"331-338"},"PeriodicalIF":1.1,"publicationDate":"2024-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11537678/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142592341","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}