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The lymphatic system is composed of lymphatic vessels and lymphoid organs such as the thymus, tonsils, lymph nodes, and spleen. Lymph nodes are small glands that are responsible for filtering fluid from the lymphatic system. Lymphadenopathy refers to the enlargement of lymph nodes that can occur due to autoimmune disease, malignancy or microbial infections. Immunological investigations were done from 2018 to 2023 to children with lymphadenopathy to help in diagnosis the causes of lymphadenopathy. Viruses as Epstein-Barr virus and cytomegalovirus were detected in blood samples by immunoassays. The obtained results indicated presence of Epstein-Barr virus and (45.5%), cytomegalovirus (18.2%) in children with lymphadenopathy. The results showed no significant differences in levels of serum Anti-Nuclear Antibody (ANA) for children with lymphadenopathy compared with their levels in healthy control children. Only one case (2.9%) out of 35 children with lymphadenopathy was diagnosed with Kawasaki disease and had positive ANA test. There was no significant difference in immunoglobulin A (IgA) in children with lymphadenopathy compared to their levels in healthy control children. [ABSTRACT FROM AUTHOR]

Introduction: Anti-nuclear antibody (ANA) testing is among the most common immunological test requested in the diagnostic immunology laboratory. The main purpose of this test is to screen for the underlying systemic autoimmune rheumatic diseases (SARDs). The gold standard laboratory method for ANA detection is by the indirect immunofluorescence (IIF) assay. In most laboratories, positive ANA-IIF is reported in terms of titration and pattern. Objective: This study was conducted with the aim of determining the correlation between ANA-IIF titration and pattern for the diagnosis of SARDs. Materials and methods: A retrospective study was conducted whereby the positive ANA-IIF samples from 1st July 2018 until 31st December 2019 and 1st January 2021 until 31st March 2021 were included in this study. The duplicate samples were excluded. ANA-IIF titration and pattern were recorded for all patients. The demographic, clinical, and final diagnosis data were retrieved from each patient's clinical note. Results: A total of 179 patients were included for analysis. The majority of the patients were female (79.9%) and from Malay ethnicity (66.5%). Sixty-five patients (36.3%) had ANA-IIF positive at 1:80 titration followed by 45 patients (25.1%) positive at titration of equal or more than 1:160. Speckled was the predominant pattern visualised in 90 patients (50.3%) followed by homogeneous in 76 patients (42.5%). Forty-five patients (25.1%) were finally diagnosed with SARDs with 41 of them diagnosed as SLE. ANA titration was significantly associated with the final diagnosis of SARDs at all titres (p<0.001) but the best cut-off was noted at a titre of equal or more than 1:320 with the sensitivity and specificity of 86.7% and 77.6% respectively. The homogeneous pattern was also significantly associated with SARDs (p=0.04). The final diagnosis of SARDs were significantly higher in female (p=0.03) and their age was significantly younger (p<0.001). Conclusion: ANA-IIF titration of equal or more than 1:320 can be used as the best titration for differentiating between SARDs and non-SARDs in a positive ANA sample. Patients with homogeneous pattern were more likely to be diagnosed with SARDs than other ANA-IIF patterns. [ABSTRACT FROM AUTHOR]

Abstract Background Although the 2019 EULAR/ACR classification criteria for systemic lupus erythematosus (SLE) has required at least a positive anti-nuclear antibody (ANA) titer (≥ 1:80), it remains challenging for clinicians to identify patients with SLE. This study aimed to develop a machine learning (ML) approach to assist in the detection of SLE patients using genomic data and electronic health records. Methods Participants with a positive ANA (≥ 1:80) were enrolled from the Taiwan Precision Medicine Initiative cohort. The Taiwan Biobank version 2 array was used to detect single nucleotide polymorphism (SNP) data. Six ML models, Logistic Regression, Random Forest (RF), Support Vector Machine, Light Gradient Boosting Machine, Gradient Tree Boosting, and Extreme Gradient Boosting (XGB), were used to identify SLE patients. The importance of the clinical and genetic features was determined by Shapley Additive Explanation (SHAP) values. A logistic regression model was applied to identify genetic variations associated with SLE in the subset of patients with an ANA equal to or exceeding 1:640. Results A total of 946 SLE and 1,892 non-SLE controls were included in this analysis. Among the six ML models, RF and XGB demonstrated superior performance in the differentiation of SLE from non-SLE. The leading features in the SHAP diagram were anti-double strand DNA antibodies, ANA titers, AC4 ANA pattern, polygenic risk scores, complement levels, and SNPs. Additionally, in the subgroup with a high ANA titer (≥ 1:640), six SNPs positively associated with SLE and five SNPs negatively correlated with SLE were discovered. Conclusions ML approaches offer the potential to assist in diagnosing SLE and uncovering novel SNPs in a group of patients with autoimmunity.

The goal of this study is to develop a rapid diagnostic test for rheumatic disease and systemic lupus erythematosus (SLE) screening. A novel rapid vertical flow assay (VFA) was engineered and used to assay anti-nuclear (ANA) and anti-dsDNA (αDNA) autoantibodies from systemic lupus erythematosus (SLE) patients and healthy controls (HCs). Observer scores and absolute signal intensities from the VFA were validated via ELISA. The rapid point-of-care VFA test that was engineered demonstrated a limit of detection of 0.5 IU/mL for ANA and αDNA autoantibodies in human plasma with an inter-operator CV of 19% for ANA and 12% for αDNA. Storage stability was verified over a three-month period. When testing anti-dsDNA and ANA levels in SLE and HC serum samples, the duplex VFA revealed 95% sensitivity, 72% specificity and an 84% ROC AUC value in discriminating disease groups, comparable to the gold standard, ELISA. The rapid αDNA/ANA duplex VFA can potentially be used in primary care clinics for evaluating patients or at-risk subjects for rheumatic diseases and for planning follow-up testing. Given its low cost, ease, and rapid turnaround, it can also be used to assess SLE prevalence estimates. [ABSTRACT FROM AUTHOR]

Background: Although the 2019 EULAR/ACR classification criteria for systemic lupus erythematosus (SLE) has required at least a positive anti-nuclear antibody (ANA) titer (≥ 1:80), it remains challenging for clinicians to identify patients with SLE. This study aimed to develop a machine learning (ML) approach to assist in the detection of SLE patients using genomic data and electronic health records. Methods: Participants with a positive ANA (≥ 1:80) were enrolled from the Taiwan Precision Medicine Initiative cohort. The Taiwan Biobank version 2 array was used to detect single nucleotide polymorphism (SNP) data. Six ML models, Logistic Regression, Random Forest (RF), Support Vector Machine, Light Gradient Boosting Machine, Gradient Tree Boosting, and Extreme Gradient Boosting (XGB), were used to identify SLE patients. The importance of the clinical and genetic features was determined by Shapley Additive Explanation (SHAP) values. A logistic regression model was applied to identify genetic variations associated with SLE in the subset of patients with an ANA equal to or exceeding 1:640. Results: A total of 946 SLE and 1,892 non-SLE controls were included in this analysis. Among the six ML models, RF and XGB demonstrated superior performance in the differentiation of SLE from non-SLE. The leading features in the SHAP diagram were anti-double strand DNA antibodies, ANA titers, AC4 ANA pattern, polygenic risk scores, complement levels, and SNPs. Additionally, in the subgroup with a high ANA titer (≥ 1:640), six SNPs positively associated with SLE and five SNPs negatively correlated with SLE were discovered. Conclusions: ML approaches offer the potential to assist in diagnosing SLE and uncovering novel SNPs in a group of patients with autoimmunity. [ABSTRACT FROM AUTHOR]

Abstract Background Interest in complications and sequelae following Coronavirus disease 2019 (COVID-19) is increasing. Several articles have reported COVID-19-associated autoimmune diseases and the association between autoantibodies and the severity of COVID-19. Thromboembolic complications are frequent in patients with COVID-19, and the anti-phospholipid antibodies (aPL) is frequently detected. We conducted this study to investigate the prevalence, clinical significance, and persistence of anti-nuclear antibodies (ANA) and aPLs in COVID-19. Methods We enrolled patients diagnosed with COVID-19 with oxygen demand and admitted to a tertiary hospital in South Korea between July 2020 and March 2022. ANA and aPLs levels were assessed using an immunoassay kit. Results A total of 248 patients were enrolled in the study. Among them, five patients were ANA-positive, and 41 were aPL-positive (IgM anti-cardiolipin (aCL) antibody in seven patients, IgG aCL in seven patients, IgM anti-β2Glycoprotein1 antibody (aβ2-GPI) in 32 patients, and IgG aβ2-GPI in one patient). Two of five ANA-positive patients, 13 of 32 IgM aβ2-GPI-positive patients, 5 of 7 IgM aCL-positive patients, and 2 of 7 IgG aCL-positive patients were eligible for follow-up analysis, and 100%, 69.2%, 40%, and 50% of the patients remained autoantibody-positive, respectively. There were no differences in clinical outcomes between the autoantibody-positive and autoantibody-negative groups, except for the IgG aCL group showing a tendency for worse outcomes. Conclusion A significant proportion of COVID-19 patients with oxygen demand were autoantibody-positive, and autoantibodies persisted for several months after symptom onset. Whether these autoantibodies are related to long-term sequelae in COVID-19 patients requires further investigation.

Background: Interest in complications and sequelae following Coronavirus disease 2019 (COVID-19) is increasing. Several articles have reported COVID-19-associated autoimmune diseases and the association between autoantibodies and the severity of COVID-19. Thromboembolic complications are frequent in patients with COVID-19, and the anti-phospholipid antibodies (aPL) is frequently detected. We conducted this study to investigate the prevalence, clinical significance, and persistence of anti-nuclear antibodies (ANA) and aPLs in COVID-19. Methods: We enrolled patients diagnosed with COVID-19 with oxygen demand and admitted to a tertiary hospital in South Korea between July 2020 and March 2022. ANA and aPLs levels were assessed using an immunoassay kit. Results: A total of 248 patients were enrolled in the study. Among them, five patients were ANA-positive, and 41 were aPL-positive (IgM anti-cardiolipin (aCL) antibody in seven patients, IgG aCL in seven patients, IgM anti-β2Glycoprotein1 antibody (aβ2-GPI) in 32 patients, and IgG aβ2-GPI in one patient). Two of five ANA-positive patients, 13 of 32 IgM aβ2-GPI-positive patients, 5 of 7 IgM aCL-positive patients, and 2 of 7 IgG aCL-positive patients were eligible for follow-up analysis, and 100%, 69.2%, 40%, and 50% of the patients remained autoantibody-positive, respectively. There were no differences in clinical outcomes between the autoantibody-positive and autoantibody-negative groups, except for the IgG aCL group showing a tendency for worse outcomes. Conclusion: A significant proportion of COVID-19 patients with oxygen demand were autoantibody-positive, and autoantibodies persisted for several months after symptom onset. Whether these autoantibodies are related to long-term sequelae in COVID-19 patients requires further investigation. [ABSTRACT FROM AUTHOR]

Background: Rheumatoid Arthritis (RA) is a systemic and chronic autoimmune disease with inflammation at the synovial joints. The purposes of this study were to evaluate the correlation between serological variables and temporomandibular disorders (TMDs) in patients diagnosed with RA, evaluated through diagnostic criteria for temporomandibular disorders (DC/TMD), and to check the influence of comorbidities on the different TMD signs and symptoms, or any serological variables. Methods: This observational cohort research study included seventeen patients affected by RA. The comorbidities and some variables from the initial serological analyses were collected from the clinical rheumatological charts. Then, the presence of any of the following TMD signs/symptoms, temporal myalgia, temporomandibular joint arthralgia, click or crepitus, was evaluated through the symptom questionnaire of the DC/TMD during clinical evaluation following the DC/TMD examination form. Results: Rheumatoid factor (RF), anticitrullinated protein antibodies (ACPA), and anti-nuclear antibody (ANA) positivity were present in 82.4%, 52.9%, and 41.2% of patients, respectively. Indicators of tissue inflammation were evaluated with median values of 21 mm/h for erythrocyte sedimentation rate (ESR) and 0.50 mg/dL for C-reactive protein (CRP). The RA patients presented comorbidities such as hypertension in 70.6% and diabetes in 23.5%. Negative ACPA had a significant association with myalgia (p = 0.03), and positive ANA was significantly associated with crepitus (p = 0.05). Conclusion: ANA and ACPA evaluation can be considered predictive serological tests associated with specific TMDs. Conversely, no influence of any comorbidities was found between different TMD signs and symptoms, or any serological variables. [ABSTRACT FROM AUTHOR]

Aim: To investigate the relationship between the prevalence of antinuclear antibody (ANA) ‐associated rheumatic diseases (AARD) and the presence of dense fine speckled (DFS) and homogeneous patterns in ANA tests. Methods: This retrospective study enrolled adult patients with either a DFS or homogeneous pattern in their ANA test. A mixed pattern was defined as the presence of more than one pattern reported in the test. The presence of anti‐DFS70 antibodies and other common autoantibodies were detected using EUROLINE ANA Profile 23. A 1:2 propensity score matching was applied to control for demographic and other interfering factors. Results: A total of 59 patients with a DFS pattern were enrolled and compared with a matched homogeneous group. The DFS group had a significantly lower prevalence of AARD (3.4% vs. 16.9%, p =.008) and the subgroup with anti‐DFS70 antibodies showed an even lower prevalence (2% vs. 20%, p =.002). Among the 33 patients with monospecific anti‐DFS70 antibodies, five had a mixed pattern, and all patients with common autoantibodies had an isolated DFS pattern. Conclusions: The findings of this study suggest that patients with a DFS pattern in their ANA test may have a lower prevalence of AARD compared with those with a homogeneous pattern. However, an isolated DFS pattern in ANA testing does not necessarily indicate the presence of monospecific anti‐DFS70 antibodies or AARD. Confirmatory testing for the monospecific anti‐DFS70 antibody is mandatory to exclude AARD. [ABSTRACT FROM AUTHOR]

Anti-nuclear antibody test (ANA) is the test commonly requested for the working diagnosis of systemic autoimmune rheumatic diseases (SARDs) particularly in ANA-associated rheumatic diseases (AARDs) such as SLE, systemic sclerosis, Sjogren syndrome, mixed connective tissue diseases, and dermatomyositis. Dense fine speckled (DFS) pattern is an ANA fluorescence pattern that is commonly encountered in laboratories. This pattern is largely detected among the healthy population and in non-SARDs patients. Although this pattern is still can be observed among SARDs patients, the low prevalence of monospecific or isolated anti-DFS70 antibodies makes it useful for ruling out AARDs diagnosis. Thus, the inclusion of anti-DFS70 antibodies is perhaps logical for the exclusion of SARDs/AARDs. This review provides evidence of the prevalence of anti-DFS70 antibodies in different populations including healthy individuals, patients with SARDs and non-SARDs. The algorithm that includes the detection of anti-DFS70 antibodies during ANA screening is also suggested. [ABSTRACT FROM AUTHOR]

The kinesin superfamily protein 20B (KIF20B), also known as M‐phase phosphoprotein‐1, is a plus‐end‐directed motor enzyme for cytokinesis. Anti‐KIF20B antibodies have been reported in idiopathic ataxia, but no previous studies have examined anti‐KIF20B antibodies in systemic autoimmune rheumatic diseases (SARDs). We aimed to establish methods for detecting anti‐KIF20B antibodies and to investigate the clinical significance of these antibodies in SARDs. Serum samples from 597 patients with various SARDs and 46 healthy controls (HCs) were included. Fifty‐nine samples that had been examined by immunoprecipitation using the recombinant KIF20B protein produced by in vitro transcription/translation were used for establishing the ELISA cutoff with the same recombinant protein for measuring the anti‐KIF20B antibodies. The ELISA performed well, showing close agreement with the immunoprecipitation results (Cohen's κ >0.8). The ELISA results for 643 samples showed the prevalence of anti‐KIF20B to be higher in the systemic lupus erythematosus (SLE) patients than in the HCs (18/89 vs. 3/46, P = 0.045). Since no SARD other than SLE had higher frequencies of anti‐KIF20B antibodies than those of the HCs, we investigated the clinical characteristics of anti‐KIF20B antibody‐positive cases in SLE. The score on the SLE Disease Activity Index‐2000 (SLEDAI‐2K) was significantly higher for the anti‐KIF20B‐positive SLE patients than for the anti‐KIF20B‐negative SLE patients (P = 0.013). In a multivariate regression analysis of the anti‐single‐stranded deoxyribonucleic acid, anti‐double‐stranded deoxyribonucleic acid, and anti‐KIF20B antibodies, the presence of anti‐KIF20B antibody was significantly associated with high SLEDAI‐2K scores (P = 0.003). Anti‐KIF20B antibodies were found in ~20% of patients with SLE and were associated with high SLEDAI‐2K scores. Much larger cohort and longitudinal studies are needed to confirm the association between anti‐KIF20B antibodies and SLE. [ABSTRACT FROM AUTHOR]

We evaluated the reasons for requesting anti-nuclear antibody (ANA) analysis in clinical practice at a tertiary center and the performance of ANA in pediatric autoimmune diseases. Patients under 18 years of age who underwent ANA testing for various symptoms between 2013 and 2017 were included. We retrieved data from medical records, including demographic and clinical characteristics, diagnoses, ANA results, titers, and staining patterns. The performance assessment tools were calculated according to the ANA titer for autoimmune diseases. Risk factors for autoimmune diseases in ANA-positive patients were evaluated using logistic regression analysis. Changes in ANA titer and seroconversion were evaluated using repeated ANA analyses. A total of 3812 patients underwent ANA. Medical records of 3320 patients were obtained. The rate of ANA positivity was 27.4%. ANA was requested most frequently because of musculoskeletal findings in 1355 patients (40.8%). Juvenile idiopathic arthritis (n = 174, 20.2%) was the most common diagnosis in ANA-positive patients, followed by systemic lupus erythematosus (n = 52, 6%). For autoimmune diseases, a titer of ≥ 1:100, a sensitivity of 40.1%, and a specificity of 77.1% were observed. At a titer ≥ 1:1000, the sensitivity and specificity were 24.1% and 89%, respectively. Homogeneous staining was an additional risk factor for autoimmune diseases in ANA-positive patients by multivariate logistic regression analysis (OR [95% CI]: 4.562 [3.076–6.766], p < 0.001). Conclusion: Our results revealed that the performance of the ANA test in diagnosing autoimmune diseases in pediatric clinical practice was poor. Therefore, clinical findings should be carefully evaluated before ANA testing is performed. What is Known: • ANA can be detected in systemic autoimmune rheumatic diseases. • The diagnostic role of ANA is controversial, especially in childhood. What is New: • One in four patients who requested the ANA test had an autoimmune disease. • Less than half of patients with an autoimmune disease had ANA positivity. [ABSTRACT FROM AUTHOR]

INTRODUCTION: Sjögren's syndrome (SS) is the most common autoimmune, multisystemic rheumatic disease. The wide spectrum of the signs and symptoms of SS often causes difficulties in diagnosis. Patients can apply with different complaints to general practitioners and many different specialists, apart from internists and ophthalmologists, who frequently encounter the disease. Our aim in this study was to evaluate the initial complaints of the patients who have been diagnosed with SS. METHODS: Sixty-six patients who were diagnosed with primary SS according to 2012 or 2016 classification criteria were included in the study. The clinical and laboratory features were retrospectively evaluated. RESULTS: The female/male ratio was 60/6. The initial complaint of most patients (n: 34) was arthralgia or arthritis (51.51%). ANA was positive in 56 patients (84.84%), RF in 19 (28.78%), but not evaluated in 7 (10.6%), anti-SS-A in 29 (43.93%), and anti-SS-B in 16 (24.24%). Sixty-three patients had a positive Schirmer test. Minor salivary gland biopsy was obtained in 42 patients, and 28 had biopsy findings consistent with SS. DISCUSSION AND CONCLUSION: SS is a common disease with a wide variety of clinical presentations. A detailed evaluation of patients is necessary to provide an accurate diagnosis and proper care.

The goal of this study is to develop a rapid diagnostic test for rheumatic disease and systemic lupus erythematosus (SLE) screening. A novel rapid vertical flow assay (VFA) was engineered and used to assay anti-nuclear (ANA) and anti-dsDNA (αDNA) autoantibodies from systemic lupus erythematosus (SLE) patients and healthy controls (HCs). Observer scores and absolute signal intensities from the VFA were validated via ELISA. The rapid point-of-care VFA test that was engineered demonstrated a limit of detection of 0.5 IU/mL for ANA and αDNA autoantibodies in human plasma with an inter-operator CV of 19% for ANA and 12% for αDNA. Storage stability was verified over a three-month period. When testing anti-dsDNA and ANA levels in SLE and HC serum samples, the duplex VFA revealed 95% sensitivity, 72% specificity and an 84% ROC AUC value in discriminating disease groups, comparable to the gold standard, ELISA. The rapid αDNA/ANA duplex VFA can potentially be used in primary care clinics for evaluating patients or at-risk subjects for rheumatic diseases and for planning follow-up testing. Given its low cost, ease, and rapid turnaround, it can also be used to assess SLE prevalence estimates.

Autoantibodies occur in healthy subjects as well as in children with Wilson's disease (WD), but their prevalence and significance are unknown. Thus, we aimed to assess the prevalence of autoantibodies and autoimmune markers, and their relationship to liver injury in WD children. The study included 74 WD and 75 healthy children as a control group. Patients with WD underwent transient elastography (TE) examinations, as well as determination of liver function tests, copper metabolism markers, and serum immunoglobulins (Ig). In the sera of the WD patients and controls, anti-nuclear (ANA), anti-smooth muscle, anti-mitochondrial, anti-parietal cell, anti-liver/kidney microsomal, anti-neutrophil cytoplasmic autoantibodies, and specific celiac antibodies were determined. Among the autoantibodies, only the prevalence of ANA in children with WD was higher than in the controls. There was no significant relationship between the presence of autoantibodies and liver steatosis or stiffness after TE. However, advanced liver stiffness (E > 8.2 kPa) was related to IgA, IgG, and gamma globulin production. The type of treatment did not influence the prevalence of autoantibodies. Our results suggest that autoimmune disturbances in WD might not be directly related to liver damage as expressed by steatosis and/or liver stiffness after TE. [ABSTRACT FROM AUTHOR]

Objective To retrospectively analyze the detection results of anti-nuclear antibody (ANA) and ANA spectrum (ANAs) in patients with autoimmune diseases (AID), and explore the diagnostic significance of the combined detection of ANA and ANAs for AID. Methods A total of 2 495 patients who were treated in this hospital from 2018 to 2021 and tested for autoantibodies were collected. ANA was detected by indirect immunofluorescence (IIF) and ANAs by line immunoassay (LIA). Results The total positive rate of 2 495 specimens was 25. 01%. Among them, the positive rate of males was 13. 37% and that of females was 32. 17%. Females were higher than males, and the difference was statistically significant (P <0. 05). In the 2 495 specimens, 519 cases were ANA(+) (20. 80%), 404 cases were ANAs(+) (16. 19%), 323 cases were ANA(+)/ ANA(+) (12. 95%), 196 cases were ANA(+)/ ANAs(-) (7. 86%), 81 cases were ANA(-)/ ANAs(+) (3. 25%), 1 895 cases were ANA(-)/ ANA(-) (75. 95%). Compared with IIF-ANA method, the total coincidence rate of LIA-ANAs method detected was 75. 31%, the sensitivity was 62. 24%, and the specificity was 95. 00%. ANA karyotypes were mainly granular (79. 96%), centromere (6. 74%) and homogeneous (5. 59%). The positive rate of antibody in ANAS was anti-Ro52 antibody (25. 21%), anti-Sjogren's syndrome A antibody (22. 14%), anti-Sjogren's syndrome B antibody (8. 72%), anti-ribonucleoprotein (8. 36%), anti-SM antibody (7. 89%), anti-double stranded DNA antibody (5. 77%), anti-mitochondrial M2 antibody(5. 65%) and anti-centromere B protein antibody(5. 54%). Conclusion IIF-ANA and LIA-ANAs have their own advantages, but they are not completely consistent. The combined detection can effectively reduce the missed detection rate, which is of great significance for the early diagnosis, differential diagnosis, efficacy observation and prognosis judgment of AID [ABSTRACT FROM AUTHOR]

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Purpose: Systemic autoantibodies are important for the diagnosis of autoimmune diseases, but their roles in anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis are unknown. The purpose of our study is to investigate the characteristics and a prognosis of anti-NMDAR encephalitis with the prevalence of autoantibodies. Methods: Systemic autoantibodies were evaluated in 64 patients with anti-NMDAR encephalitis and 14 patients with autoimmune encephalitis with other forms. Then, according to systemic autoantibodies, patients with anti-NMDAR encephalitis were divided into an anti-nuclear antibody (ANA) positive group and an ANA negative group. The clinical outcome was assessed by a modified Rankin score at 12 months after the disease onset. Results: A total of 64 patients with anti-NMDAR encephalitis were enrolled, of which 28.13% (18/64) were positive for ANA. The titers of a positive anti-NMDAR antibody in CSF (p = 0.041) and serum (p = 0.031) in the ANA-positive group were significantly higher than the ANA-negative group. Patients with ANA positive than those with ANA negative showed lower rates of headache (p = 0.047) and speech disorder (p = 0.049). The presence of ANA was associated with a worse clinical outcome at 12 months (p = 0.043). Conclusion: ANA was prevalent in patients with anti-NMDAR encephalitis, and associated with a worse prognosis and impaired neurological recovery. [ABSTRACT FROM AUTHOR]

Objectives: Sjögren's syndrome (SS) is the most common autoimmune, multisystemic rheumatic disease. The wide spectrum of the signs and symptoms of SS often causes difficulties in diagnosis. Patients can apply with different complaints to general practitioners and many different specialists, apart from internists and ophthalmologists, who frequently encounter the disease. Our aim in this study was to evaluate the initial complaints of the patients who have been diagnosed with SS. Materials and Methods: Sixty-six patients who were diagnosed with primary SS according to 2012 or 2016 classification criteria were included in the study. The clinical and laboratory features were retrospectively evaluated. Results: The female/male ratio was 60/6. The initial complaint of most patients (n:34) was arthralgia or arthritis (51.51%). ANA was positive in 56 patients (84.84%), RF in 19 (28.78%), but not evaluated in 7 (10.6%), anti-SS-A in 29 (43.93%), and anti-SS-B in 16 (24.24%). Sixty-three patients had a positive Schirmer test. Minor salivary gland biopsy was obtained in 42 patients, and 28 had biopsy findings consistent with SS. Conclusion: SS is a common disease with a wide variety of clinical presentations. A detailed evaluation of patients is necessary to provide an accurate diagnosis and proper care. [ABSTRACT FROM AUTHOR]

Dogs with infectious arthritis may occasionally exhibit positive serum antinuclear antibody (ANA) and rheumatoid factor (RF) titers; however, relevant data are sparse for arthritis secondary to canine leishmaniosis (CanL) caused by Leishmania infantum. We determined the prevalence of positive serum ANA and RF titers in dogs with arthritis secondary to CanL. Blood samples from adult, client-owned dogs with purulent arthritis secondary to CanL, without any comorbidities, were collected for diagnostic purposes. Serum ANA titers were measured by immunoperoxidase test and RF titers by the Rose–Waaler latex test. Twelve of 23 dogs enrolled prospectively in our study had clinical arthritis, and 11 of 23 had subclinical arthritis. Based on LeishVet clinical staging, 7 dogs had clinical stage II disease, 11 had clinical stage III disease, and 5 had stage IV. None of the 23 dogs was seropositive for ANA; 3 of 23 were positive for RF. ANA and/or RF seropositivity, in dogs with CanL-associated arthritis, appears to be weak, if present at all. Based on our results, positive serum ANA and RF titers should not be expected in dogs with arthritis secondary to CanL. [ABSTRACT FROM AUTHOR]

Background and Design: In this study, we investigated the role of vitamin D deficiency and autoimmunity in chronic spontaneous urticaria (CSU) etiopathogenesis and their impact on the disease severity. Materials and Methods: Sixty patients with CSU aged between 18 and 65 years were enrolled to the study. The control group comprised 40 healthy individuals who had no episodes of urticaria or any other chronic diseases. An autologous serum skin test (ASST) was performed in all patients. In addition, 25 hydroxyvitamin D, thyroid autoantibodies (TA), anti-nuclear antibody (ANA), and basophils were evaluated in all groups. Urticaria activity score-7 (UAS7) and dermatological quality of life index (DLQI) of all patients were examined. Results: Angioedema was more frequent and UAS7 was higher in ASST-positive patients than ASST-negative patients (p=0.035, p=0.018, respectively).

Systemic lupus erythematosus (SLE) is an autoimmune disorder with multifactorial etiology involving vital organs like the heart and causing rare complications like cardiac tamponade which are indeed difficult to manage especially in a setting of macrophage activation syndrome (MAS) with flare. A case of 25-year-old female with flare having high.grade fever and breathlessness on exertion to begin with. Subsequently, she developed pericardial effusion leading to cardiac tamponade and was managed with pericardiocentesis. With the rising ferritin levels, raised triglycerides, and cytopenia, she was diagnosed as MAS, along with reactivation of tuberculosis. She was discharged on oral steroids and anti-tubercular therapy with regular follow-up. Clinical suspicion, keeping in mind, the rarest complications such as cardiac tamponade, and timely employability of biochemical tests can help in early diagnosis of MAS and can lead to early therapeutic intervention in SLE patients preventing fatal outcomes.

Summary: Objective: To identify and reclassify the patients in the lupus nephritis (LN) cohort, and to further analyze the prominent clinical features and clinical significance of each cluster. Methods: In this retrospective cross-sectional study, we used a two-step clustering method to classify 635 patients with LN into different clusters, then we observed the main differences and analyzed relevant clinical significance between the clusters. Results: Cluster 1 (20.5%) presented with the highest disease severity, patients in this group had the disease for a longer duration and higher systemic lupus erythematosus disease activity index (SLEDAI) score, with multiple positive auto-antibodies and lower complement level. Patients of cluster 2 (20.8%) had lower levels of IgG, IgA and IgM, with renal function being relatively worse in this cluster than in clusters 1 and 3. Cluster 3 was the largest group (58.7%), and the patients in this group showed mild disease severity. Conclusion: This study reclassified LN patients in a large cohort into three clusters. Our classification might be helpful to implement targeted therapy at various stages of systemic lupus erythematosus. [ABSTRACT FROM AUTHOR]

Objectives: To investigate the positive detection rate and clinical application value of anti-parietal cell antibody (PCA), anti-neutrophil cytoplasmic antibody (ANCA), anti-Saccharomyces cerevisiae antibody (ASCA), anti-gliadin antibody (AGA) and anti-nuclear antibody (ANA) in patients visiting the Department of Gastroenterology. Methods: From January 2015 to June 2018, 1,083 patients receiving detection of PCA and other autoantibodies were selected from the Department of Gastroenterology of Baoding First Central Hospital. The positive detection rate of autoantibodies was statistically analyzed. The enumeration data were expressed as rate or constituent ratio, and the rates were compared between groups using the x2 test. Results: Among the 1,083 patients, the positive detection rate of ANA, ASCA, AGA, PCA and ANCA was 33.52%, 16.71%, 15.51%, 13.66% and 7.66%, respectively. The total positive detection rate was 62.8% (n = 680). Conclusion: The population with abdominal distension, chronic abdominal pain, diarrhea and other digestive system symptoms should be timely treated with combined detection of PCA, ANCA, ASCA, AGA and ANA, which is of important clinical application value for early diagnosis of gastrointestinal diseases and prevention of missed diagnosis and misdiagnosis. [ABSTRACT FROM AUTHOR]

Background: The influence of anti-nuclear antibody (ANA) on induced ovulation was controversial, and the effect of prednisone plus hydroxychloroquine (HCQ) treatment on frozen embryo transfer outcomes of in-vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) for ANA-positive women was unclear. Methods: Fifty ANA-positive women and one-hundred ANA-negative women matched for age and anti-Mullerian hormone (AMH) were included from a Reproductive Medical Central of a University Hospital. Sixty-one oocytes pick-up (OPU) cycles in ANA+ group and one-hundred OPU cycles in ANA − group were compared; 30 frozen embryo transfer cycles without treatment and 66 with prednisone plus HCQ treatment among ANA-positive women were compared. Results: There was no statistical difference in number of retrieved oocytes (13.66 ± 7.71 vs 13.72 ± 7.23, p =.445), available embryos (5.23 ± 3.37 vs 5.47 ± 3.26, p =.347), high-quality embryos (3.64 ± 3.25 vs 3.70 ± 3.52, p =.832), and proportion of high-quality embryos (26.5% vs. 26.7%, p =.940). Biochemical pregnancy rate (33.3% vs. 68.2%, p <.05), clinical pregnancy rate (20.0% vs. 50.1%, p <.05), and implantation rate (5.6% vs. 31.8%, p <.05) were lower, and pregnancy loss rate (83.3% vs. 23.1%, p <.05) was higher in patients with treatment than no treatment. Conclusion: The influence of ANA on number of retrieved oocytes, available embryos, high-quality embryos, and proration of high-quality embryos was not found. The treatment of prednisone plus HCQ may improve implantation rate, biochemical pregnancy rate, and clinical pregnancy rate, and reduce pregnancy loss rate in frozen embryo transfer outcomes for ANA-positive women. [ABSTRACT FROM AUTHOR]

Autoantibodies occur in healthy subjects as well as in children with Wilson’s disease (WD), but their prevalence and significance are unknown. Thus, we aimed to assess the prevalence of autoantibodies and autoimmune markers, and their relationship to liver injury in WD children. The study included 74 WD and 75 healthy children as a control group. Patients with WD underwent transient elastography (TE) examinations, as well as determination of liver function tests, copper metabolism markers, and serum immunoglobulins (Ig). In the sera of the WD patients and controls, anti-nuclear (ANA), anti-smooth muscle, anti-mitochondrial, anti-parietal cell, anti-liver/kidney microsomal, anti-neutrophil cytoplasmic autoantibodies, and specific celiac antibodies were determined. Among the autoantibodies, only the prevalence of ANA in children with WD was higher than in the controls. There was no significant relationship between the presence of autoantibodies and liver steatosis or stiffness after TE. However, advanced liver stiffness (E > 8.2 kPa) was related to IgA, IgG, and gamma globulin production. The type of treatment did not influence the prevalence of autoantibodies. Our results suggest that autoimmune disturbances in WD might not be directly related to liver damage as expressed by steatosis and/or liver stiffness after TE.

배경: Interest in complications and sequelae following COVID-19 is increasing. Several articles have reported COVID-19-associated autoimmune diseases and the association of autoantibodies with the severity of COVID-19. Thromboembolic complications frequently occur in COVID-19 patients, and the anti-phospholipid antibody (aPL) is frequently detected. We conducted this study to investigate the prevalence, clinical significance, and persistence of anti-nuclear antibody (ANA) and aPL in COVID-19. 방법: This study enrolled the patients diagnosed with COVID-19 with oxygen demand, admitted to Severance Hospital, running a critical care unit for COVID-19 in South Korea from July 2020 to March 2022. ANA and aPLs were assessed using the immuno-assay kit. 결과: A total of 250 patients were enrolled during the study period. Among them, five patients showed ANA-positive, and 41 showed aPL-positive (IgM anti-Cardiolipin (aCL) antibody for seven patients, IgG aCL for seven patients, IgM anti-β2Glycoprotein1 antibody (aβ2-GPI) for 32 patients, and IgG aβ2-GPI for one patient). Two of the five ANA-positive patients, 13 of the 32 IgM aβ2-GPI-positive patients, 5 of the 7 IgM aCL-positive patients, and 2 of the 7 IgG aCL-positive patients were eligible for follow-up analysis, and 100%, 69.2%, 40%, and 50% of the patients remained autoantibody-positive, respectively. Except for the IgG aCL group, there were no differences in clinical outcomes, including thromboembolic complications, between the autoantibody-positive and negative groups. 결론: Our study demonstrated that a significant proportion of COVID-19 patients with oxygen demand showed autoantibody-positive and persisted several months after symptom onset. Whether these autoantibodies are related to long-term sequelae in COVID-19 patients requires further research. [ABSTRACT FROM AUTHOR]

Background and Design: In this study, we investigated the role of vitamin D deficiency and autoimmunity in chronic spontaneous urticaria (CSU) etiopathogenesis and their impact on the disease severity. Materials and Methods: Sixty patients with CSU aged between 18 and 65 years were enrolled to the study. The control group comprised 40 healthy individuals who had no episodes of urticaria or any other chronic diseases. An autologous serum skin test (ASST) was performed in all patients. In addition, 25 hydroxyvitamin D, thyroid autoantibodies (TA), anti-nuclear antibody (ANA), and basophils were evaluated in all groups. Urticaria activity score-7 (UAS7) and dermatological quality of life index (DLQI) of all patients were examined. Results: Angioedema was more frequent and UAS7 was higher in ASST-positive patients than ASST-negative patients (p=0.035, p=0.018, respectively). <10 ng/mL vitamin D levels were more fraquently seen in the patients with CU than in the control group (p=0.002). The frequencies of TA and ANA positivity were higher, and basophil count was lower in all patients compared to the control group (p=0.001, p=0.001, p=0.001, respectively). The quality of life was more impaired in patients with positive ASST (p=0.011). The duration of the disease was longer, and UAS7 was higher in patients with positive-TA (p=0.012, p=0.028, respectively). UAS7 was significantly higher in ANA-positive patients (p=0.042). A significant negative correlation was found between the DLQI and basophil counts (p=0.039). Conclusion: Understanding the role of vitamin D deficiency, autoimmunity in CSU etiopathogenesis may help treat severe diseases. [ABSTRACT FROM AUTHOR]

Primary biliary cirrhosis (PBC) is a chronic liver disease characterized by the immune mediated destruction of small intrahepatic bile duct epithelial cells leading to cholestasis and cirrhosis. The autoimmune basis of PBC is supported by the highly specific anti-mitochondrial antibodies (AMAs) and autoreactive T cells, the former being the basis for diagnosis in the vast majority of cases. Although a rare disease, the incidence rates of PBC have been increasing, possibly due to increased testing and diagnosis as opposed to a true increase in disease incidence. Presently, most cases are asymptomatic and only suspected based upon routine liver tests. Those with symptoms typically complain of pruritus and fatigue. The diagnosis of PBC is based on the presence of at least 2 of 3 key criteria including a persistently elevated serum alkaline phosphatase, the presence of serum AMAs, and liver histology consistent with PBC. Anti-nuclear antibodies specific to PBC are useful in cases in which AMAs are not detected and may indicate a more aggressive course. Ursodeoxycholic acid is the only proven therapy for PBC and in most cases can delay or prevent disease progression. However, a subgroup of patients does not adequately respond to ursodeoxycholic acid and for whom new therapies are needed.

BackgroundThe clinical significance of circulating autoantibodies in idiopathic pulmonary fibrosis is unclear. The objective of this study was to determine the frequency and clinical significance of circulating autoantibodies in idiopathic pulmonary fibrosis.MethodsWe measured an extensive panel of autoantibodies (including rheumatoid factor, anti-cyclic citrullinated peptide, and anti-nuclear antibodies by immunofluorescence) associated with connective tissue disease or vasculitis in a cohort of well-characterized patients with idiopathic pulmonary fibrosis (n = 67). The prevalence of circulating autoantibodies was compared between idiopathic pulmonary fibrosis patients and healthy controls (n = 52). We compared the clinical characteristics of patients with and without circulating autoantibodies, and analyzed the relationship between autoantibody positivity and transplant-free survival time.ResultsPositive autoantibodies were found in 22% of patients with IPF and 21% of healthy controls. There were no differences in the types of autoantibodies found between patients with idiopathic pulmonary fibrosis and healthy controls. Among patients with idiopathic pulmonary fibrosis, there were no significant differences in clinical characteristics between those with and without circulating autoantibodies. The presence of circulating autoantibodies was associated with longer transplant-free survival time on adjusted analysis, however the significance varied depending on which statistical model was used (HR 0.22-0.47, p value 0.02-0.17).ConclusionsThe frequency of circulating autoantibodies in patients with idiopathic pulmonary fibrosis is no different compared to healthy controls, but may be associated with longer survival.

Copyright of Medical Journal of Istanbul Kanuni Sultan Süleyman / İstanbul Kanuni Sultan Süleyman Tıp Dergisi is the property of Logos Medical Publishing and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background: Metabolic dysfunction associated steatotic liver disease (MASLD) and metabolic dysfunction associated steatohepatitis (MASH) are rapidly growing public health concerns. Identifying predictive markers for advanced liver disease in MASLD patients is crucial for early intervention. This study investigates the association between autoantibody positivity and risk for severe fibrosis or cirrhosis across various subgroups., Methods: We conducted a retrospective study of adult patients diagnosed with MASLD between 1994 and 2019. Autoantibody status (anti-nuclear and anti-smooth muscle antibodies) was assessed using laboratory studies. Hepatic fibrosis or cirrhosis was determined histologically or through accepted non-invasive measures. Logistic regression analyses were employed to evaluate the association between autoantibody positivity and severe fibrosis or cirrhosis. Patients with comorbid viral and alcohol liver disease were assessed separately., Results: Among 2,749 MASLD patients, 1,425 (51.8%) were male and 1,324 (48.2%) were female, with a mean age of 58.7 years. A total of 541 (19.7%) patients tested positive for autoantibodies. Autoantibody positivity was associated with a higher risk of severe fibrosis or cirrhosis in MASLD patients (odds ratio 1.28, 95% CI [1.0-1.6]). This association persisted across various subgroups, including those with concurrent hepatitis B and C virus infections. In contrast, in alcohol liver disease, autoantibody-positive patients exhibited a lower risk., Conclusion: Autoantibody positivity emerges as a potential predictive marker for advanced liver disease in MASLD patients, facilitating risk stratification and tailored interventions. This study highlights the clinical relevance of autoantibodies in MASLD and underscores the need for prospective validation and mechanistic investigations to refine risk assessment and management strategies., Competing Interests: The authors have no conflicts of interest to disclose., (© Canadian Association for the Study of the Liver, 2024.)

Objective Polyclonal hypergammaglobulinemia (PHGG) is a classic problem in internal medicine; however, its conditions and diagnostic procedures have not been well studied. We therefore conducted a retrospective study to characterize the PHGG disease spectrum. Methods We included all patients who underwent serum protein electrophoresis (SPEP) at a hematology tertiary referral center during a five-year period. For these patients, globulin clonality was determined and clinical data were extracted from the records. Results Out of 209 consecutive cases of hypergammaglobulinemia demonstrated by SPEP, 79 cases of PHGG were identified. A total of 46 diagnoses were associated with PHGG. Patients with PHGG were younger (median 71.0 years old (yo) vs. 65 years; P = 0.002) and had lower gamma-globulin levels (median, 26.5 g/L vs 24.8 g/L; P = 0.03) than those with monoclonal hypergammaglobulinemia. Interestingly, out of 79 patients with PHGG, 15 were associated with more than one diagnosis, and a female predominance was observed in this specific subset of patients. PHGG cases with multiple diseases showed higher gamma-globulin levels than those with monoclonal hypergammaglobulinemia, in a disease-dependent manner. Additionally, positive antinuclear antibodies (ANAs) had a discriminative ability with an area under the curve of 0.81 (95% confidence interval, 0.65-0.96) and were highly sensitive to multimorbidity in PHGG (sensitivity, 92.3%). Conclusion These results establish a previously underappreciated unique immunological state of multimorbidity in PHGG and indicate that the gamma-globulin levels and ANAs could serve as markers for the clinical assessment of comorbidities in PHGG.

Background: Lupus nephritis (LN) is a serious complication of systemic lupus erythematosus (SLE). Activation of complement system which leads to the production of C4 and its ultimate product, C4d, plays an important role in the pathogenesis of LN. Objectives: Although serum C4d levels correlate with disease activity, there is almost no study on the correlation between tissue deposition of C4d and classes of LN. Patients and Methods: Seventy-two patients with a diagnosis of SLE who met ≥ 4 criteria of American Rheumatism Association (ARA) were enrolled in this study. Blood levels of anti-nuclear antigens (ANA), anti-double stranded DNA (Anti-dsDNA), C3, C4 and antiphospholipid antibodies were measured. Renal tissue obtained by biopsy was examined regarding diffuse granular deposition of C4d along the glomerular capillary loops and classes of LN according to the World Health Organization (WHO) classification. Results: LN class IV was the most prevalent and LN class I had the least prevalence. There was no correlation between positive C4d staining and classes of LN (P>0.05), but a significant correlation between positive Anti-dsDNA and C4d positive LN was found (P=0.05). Likewise no correlation was detected between the low levels of complements and classes of LN or C4d positivity. Conclusions: The presence of C4d indicates activation of classical complement pathway in LN. C4d deposition in glomerular capillaries of LN does not indicate the present disease activity but may be a useful marker to predict the prognosis of LN. Anti-dsDNA is a valuable test for disease activity and is correlated with C4d positive staining.

Systemic lupus erythematosus (SLE) is an autoimmune disorder with multifactorial etiology involving vital organs like the heart and causing rare complications like cardiac tamponade which are indeed difficult to manage especially in a setting of macrophage activation syndrome (MAS) with flare. A case of 25-year-old female with flare having high. grade fever and breathlessness on exertion to begin with. Subsequently, she developed pericardial effusion leading to cardiac tamponade and was managed with pericardiocentesis. With the rising ferritin levels, raised triglycerides, and cytopenia, she was diagnosed as MAS, along with reactivation of tuberculosis. She was discharged on oral steroids and anti-tubercular therapy with regular follow-up. Clinical suspicion, keeping in mind, the rarest complications such as cardiac tamponade, and timely employability of biochemical tests can help in early diagnosis of MAS and can lead to early therapeutic intervention in SLE patients preventing fatal outcomes. [ABSTRACT FROM AUTHOR]

The objective of the study is to evaluate the sensitivity of the new criteria for the classification of systemic lupus erythematosus (SLE), when applied to real SLE cases. We retrospectively reviewed the electronic medical records of 100 consecutive patients who visited St. Luke's International Hospital. Patients were included if they were clinically diagnosed as having SLE and excluded if they had other autoimmune disease or if they were less than 18 years old. Each patient was evaluated if they satisfied the American College of Rheumatology (ACR) 1997 classification criteria (1997 criteria), 2012 Systemic Lupus International Collaborating Clinics criteria (2012 criteria), or 2019 ACR/European League Against Rheumatism (EULAR) criteria. Among the 100 patients, the sensitivity of the 1997, 2012, and 2019 criteria was, 97, 99, and 92%, respectively. The total patient score with the 2019 criteria ranged from 12 to 44 (mean, 27.3). All patients who were classified as non-SLE with the 2019 criteria had an anti-nuclear antibody (ANA) titre of < 1:80. The 2019 criteria for SLE accomplished modestly high sensitivity in the real-world practice, but not as high as the 1997 and 2012 criteria. They possibly misclassify the real SLE cases as non-SLE, especially if patients have a low titre (< 1:80) of ANA. Key Points • The 2019 criteria for the classification of SLE achieve modestly high sensitivity in real-world practice. • The entry criteria (ANA ≥ 1:80) possibly misclassify the real SLE cases as non-SLE, as the sensitivity of IIF-ANA in SLE varies widely depending on the staining kit. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the detections of antinuclear antibody (ANA), anticardiolipin antibody (ACL) and anti-β2 glycoprotein 1 antibody (aβ2GP1) in patients with moderate and severe endometriosis before IVF/ICSI treatment. Methods：From January 2018 to April 2019, 86 patients with moderate and severe endometriosis (EMs group, 86 cases) and 82 women who were planned to undertake IVF/ICSI treatment due to male factors (control group, 82 cases) were collected as the subjects. The level of serum ANA was detected by immunofluorescence, and the levels of ACL and aβ2GP1 antibodies were detected by enzyme -linked immunosorbent assay. Results：The total positive rate of at least one antibody positive in the EMs group was 31.40% (27/86), while that in the control group was 12.19% (10/82). The difference between the two groups was statistically significant (P＜0.05); The total positive rate of ANA in the EMs group [5.81% (5/86)] was slightly higher than that in the control group [1.22% (1/82), but P＞0.05]. The total positive rate of ACL in the EMs group [13.95% (12/86)] was also slightly higher than that in the control group [6.10% (5/82), but P＞0.05]. Interestingly, the total positive rate of aβ2GP1 in the EMs group [16.28% (14/86)] was significantly higher than that in the control group [6.10% (5/82), P＜0.05]. Conclusions：The combined screening of serum ANA, ACL and aβ2GP1 is recommended for patients with moderate and severe endometriosis before IVF/ICSI treatment. The positive rate of aβ2GP1 in patients with moderate and severe endometriosis is high, which deserves clinical attention. [ABSTRACT FROM AUTHOR]

The global increase in autoimmunity, together with the emerging autoimmune-related side effects of cancer immunotherapy, have furthered a need for understanding of immune tolerance and activation. Systemic lupus erythematosus (SLE) is the archetypical autoimmune disease, affecting multiple organs, and tissues. Studying SLE creates knowledge relevant not just for autoimmunity, but the immune system in general. Murine models and patient studies have provided increasing evidence for the innate immune toll like receptor-7 (TLR7) in disease initiation and progression. Here, we demonstrated that the kinase activity of the TLR7-downstream signaling molecule, interleukin-1 receptor associated kinase 4 (IRAK4), is essential for mild and severe autoimmune traits of the Sle1 and Sle1-TLR7 transgenic (Sle1Tg7) murine models, respectively. Elimination of IRAK4 signaling prevented all pathological traits associated with murine lupus, including splenomegaly with leukocyte expansion, detectable circulating antinuclear antibodies and glomerulonephritis, in both Sle1 and Sle1Tg7 mice. The expansion of germinal center B cells and increased effector memory T cell phenotypes that are typical of lupus-prone strains, were also prevented with IRAK4 kinase elimination. Analysis of renal leukocyte infiltrates confirmed our earlier findings of an expanded conventional dendritic cell (cDC) within the kidneys of nephritic mice, and this was prevented with IRAK4 kinase elimination. Analysis of TLR7 at the protein level revealed that the expression in immune cells is dependent on the TLR7-transgene itself and/or autoimmune disease factors in a cell-specific manner. Increased TLR7 protein expression in renal macrophages and cDCs correlated with disease parameters such as blood urea nitrogen (BUN) levels and the frequency of leukocytes infiltrating the kidney. These findings suggest that controlling the level of TLR7 or downstream signaling within myeloid populations may prevent chronic inflammation and severe nephritis.

Objective: To evaluate the clinical and laboratory characteristics, therapeutic drugs, and prognosis of juvenile systemic sclerosis (JSSc) at a single center in Korea., Methods: This study was a retrospective analysis of patients with JSSc aged <16 years at disease onset and who were treated at our hospital between January 1992 and April 2023. All patients met the Pediatric Rheumatology European Society/American College of Rheumatology/European League against Rheumatism provisional classification criteria for JSSc, and those with localized scleroderma (morphea) were excluded., Results: Among the 13 patients, proximal skin sclerosis (100%), Raynaud's phenomenon (RP) (84.6%), and sclerodactyly (69.2%) were present at the time of diagnosis. The most common symptom before diagnosis was RP, which was present in 10 patients (76.9%), whereas proximal skin sclerosis was observed in only five patients (38.5%). Thirteen patients had positive anti-nuclear antibody (ANA). At the time of diagnosis, five individuals had findings suggestive of interstitial lung disease (ILD) on a pulmonary function test (PFT) or chest computed tomography (CT), two of whom were asymptomatic. During follow-up, three patients developed ILD, one developed renal dysfunction, one developed heart disease, and none died., Conclusion: This study was the first descriptive analysis of clinical features of JSSc in South Korea. Clinical suspicion is essential for diagnosing JSSc in patients with RP, especially if ANA is positive; however, proximal skin sclerosis, which is crucial for diagnosing JSSc, was unrecognized in the early phase of the disease. PFT should be considered even if a patient is asymptomatic or has normal chest CT., Competing Interests: CONFLICT OF INTEREST No potential conflict of interest relevant to this article was reported., (Copyright © 2024 by The Korean College of Rheumatology. All rights reserved.)

Copyright of Journal of Modern Laboratory Medicine is the property of Journal of Modern Laboratory Medicine Editorial Department and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

The dense fine speckled (DFS) nuclear pattern is one of the most common indirect immunofluorescence (IIF) patterns detected during routine anti-nuclear antibody (ANA) screening. There is a negative association between anti-DFS70 status and systemic autoimmune rheumatic disease (SARD), especially in the absence of concomitant SARD-specific autoantibodies. The purpose of this study was to determine the need for confirming anti-DFS70 status when a DFS pattern is observed in IIF-ANA. The frequency of anti-DFS70 detection on Western blot and the positive rate of connective tissue disease (CTD)-related autoantibody screening with a fluorescence-based enzyme immunoassay was evaluated in DFS (n = 182) and non-DFS (n = 359) groups. Specific autoantibodies against 15 autoantigens were identified by line immunoassay. We evaluated the frequency of cases of DFS mistaken for non-DFS and non-DFS cases mistaken for DFS, as well as the clinical impacts of these misinterpretations. Among cases of IIF-ANA with an observable DFS pattern, 68.1% had only anti-DFS70 without CTD-related autoantibodies, 20.3% were false positive for IIF-ANA, and the remaining 11.5% had CTD-related autoantibodies independent of anti-DFS70 status. These results indicated that CTD-related autoantibodies may be present with or without anti-DFS70 even if a DFS pattern is observed in IIF-ANA. Among patients who are ANA negative or have a low probability of SARD, an anti-DFS70 confirmation test has no clinical benefit and cannot replace specific tests for detecting CTD-related autoantibodies. Specific tests to detect CTD-related autoantibodies should be performed instead of anti-DFS70 confirmation tests when a DFS pattern is observed in IIF-ANA. [ABSTRACT FROM AUTHOR]