Systemic Lupus Erythematosus Complicated with Mycobacterium Leprae Infection: a Rare Case Report.

BACKGROUND: In December 2023, our hospital confirmed a case of systemic lupus erythematosus complicated with Mycobacterium leprae infection. The patient has extensive patchy erythema on the back and face, with obvious itching. There are multiple subcutaneous masses on both hands, some of which are accompanied by tenderness, wave sensation, and other symptoms. The patient's mother has a history of leprosy and close contact with the patient. The patient tested positive for syphilis antibodies 2 years ago and did not receive formal treatment. There is no other history of chronic illness. METHODS: Under local anesthesia, the left hand skin lesion was excised, followed by tissue pathological biopsy, acid-fast staining, mNGS, and serum Treponema pallidum antibody detection. RESULTS: Pathological biopsy results: A large number of foam-like histiocytes, lymphocytes, and plasma cells were mainly found in the superficial and deep layers of the dermis, as well as around the blood vessels and sweat glands in the subcutaneous fat. Cellulose-like degeneration is seen in some blood vessel walls. Tissue acid-fast staining: positive, tissue mNGS detection: Mycobacterium leprae. CLINICAL DIAGNOSIS: 1. Borderline leprosy, 2. Subacute cutaneous lupus erythematosus. Treat with methylprednisolone 32 mg qd po + aluminum magnesium suspension 15 mL tid po + calcium carbonate D3 tablets 0.6 g qd po + rifampicin 450 mg qd po + dapsone 100 mg qd. After 10 days of treatment, the patient improved and was discharged from the hospital. CONCLUSIONS: Mycobacterium leprae infection occurs during SLE treatment and is often difficult to distinguish from skin symptoms caused by SLE. In the clinical treatment of infectious diseases, the effect of conventional anti-bacterial drugs is not good. The auxiliary examination indicates severe infection and the routine culture is negative. The possibility of special pathogen infection should be considered in combination with the medical history. With the popularity of new detection methods such as mNGS, the importance of traditional smear detection methods cannot be ignored.

Association of education attainment and risk of connective tissue diseases.

OBJECTIVE: We employed two-sample Mendelian randomization (MR) to assess the genetic causal relationship between educational attainment (EA) and risk of five common connective tissue diseases (CTDs). METHODS: Educational attainment (self-reported at age ≥30 years) was obtained from a meta-analysis of years of schooling in 766 345 participants of European ancestry from genome-wide association studies (GWAS). A total of 1265 signals associated with EA were identified. Genetic data for five CTDs [rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), systemic sclerosis (SSc), polymyositis (PM), and dermatomyositis (DM)] were obtained from the FinnGen consortium. Two-sample MR analyses were performed separately for EA and the five CTDs. RESULTS: We found a negative causal relationship between EA and RA (ORIVW = 0.627, 95% CI = 0.537-0.732, p < .001), and SLE (ORIVW = 0.341, 95% CI = 0.123-0.944, p = .038). There were no genetic causal association between EA and SSc (ORIVW = 0.647, 95% CI = 0.351-1.195, p = .164), PM (ORIVW = 0.938, 95% CI = 0.320-2.746, p = .907), or DM (ORIVW = 0.754, 95% CI = 0.351-1.619, p = .468). None of the analyses revealed any horizontal pleiotropy or heterogeneity. CONCLUSION: Our findings indicated a potential causal association between EA and RA, SLE, emphasizing the need for further investigation and potential integration of EA into clinical practice to enhance treatment strategies.

Diagnosis and presenting features of autoimmune hepatitis at a central referral hospital in South Africa.

Introduction Autoimmune hepatitis (AIH) has scarcely been reported on in patients of black African descent. Similarly, few studies have focused on the relationship between AIH and Human-Immunodeficiency Virus (HIV) infection. Aim We aim to describe the presenting features of AIH from a single referral centre in a Sub-Sahara African setting. We also compare the presenting features of HIV-infected and HIV-uninfected patients. Methods This study was a retrospective chart review. Patients were included if they fulfilled criteria for the International AIH Group simplified score for probable or definite AIH, were 18 years or older at inclusion, and attended the adult Gastroenterology clinic at Inkosi Albert Luthuli Central Hospital (IALCH) for the period 1/1/2015 to 31/12/2020 on at least 2 occasions. Results Forty cases were included, of which 33 (82.5%) were female and 33 (82.5%) were black African. Median age at diagnosis was 26 years. A diagnosis of a coexistent autoimmune disease was made in 22.5% of patients, with Systemic Lupus Erythematosus (SLE) being the most common (12.5%). Sixteen patients were HIV-infected, all of whom were female (p =0.03), with a significantly older age of disease onset as compared to their HIV-uninfected counterparts (median age 38 vs 17.5 years, p <0.001). Conclusion AIH is a disease most commonly affecting young females. Female sex and older age of onset is associated with AIH in HIV-infected individuals.

Referrals for rheumatologic evaluation following a positive antinuclear antibody test result. A cross-sectional single center Brazilian study.

BACKGROUND: In general, patients are referred for rheumatological evaluation due to isolated laboratory abnormalities, especially antinuclear antibody (ANA) positivity, with the risk of more severe patients remaining on the waiting list for longer than desired. The aim of this study was to analyze the demographic, clinical, and laboratory information of patients referred to a specialized rheumatological care unit because of positive antinuclear antibody. METHODS: This is a retrospective study of 99 out of 1670 patients seen by the same rheumatologist between 01/01/2011 and 01/01/2019. Patients whose referrals were exclusively due to the ANA test result and the specialist's final diagnosis being "abnormal finding of serum immunological test" (ICD-10 R769) were included. Sociodemographic, clinical, and laboratory information were extracted from the consulting rheumatologist's chart. Descriptive statistics were used for data analysis. RESULTS: A total of 99 patients were included, most of whom were female (84.8%) with a median age of 49 years. At the moment of specialist's appointment, 97 patients (97.9%) repeated the ANA test, and 77 patients remained positive. Of these, only 35 (35.35%) were in a high titer range (greater than or equal to 1:320). Complete blood count for cytopenia's investigation was not performed in a high percentage of patients (22.2%), as well as urinalysis (31.3%). In addition, more than 70% of patients score 0 to 1 classification criteria for Systemic Lupus Erythematosus, according to SLE - ACR 1987 (American College of Rheumatology) and SLICC 2012 (Systemic Lupus International Collaborating Clinics). CONCLUSIONS: Most patients are still referred for specialized evaluation due to the misinterpretation of laboratory tests that were inappropriately requested in patients without clinical evidence of autoimmune rheumatic disease.

Kidney transplantation from a systemic lupus erythematosus donor and 1-year follow-up: A case report.

Systemic lupus erythematosus (SLE) is usually regarded as a relative contraindication for deceased kidney donation. The pathological variations because of the changes in the immune environment after kidney transplantation (KT) are unclear, and the recovery of renal function is poorly understood. We present a case of KT from a deceased donor with SLE who was followed-up for one year. Although SLE-related hemangioma developed during the perioperative period, it was cured after interventional treatment. A pre-planned biopsy was performed one year after KT, and it was found that most of the pathological changes and immunofluorescent markers of lupus had resolved. Renal function was stable, and urinary protein and occult blood levels reduced one year after KT.

Functional analysis of a panel of molecular markers for diagnosis of systemic lupus erythematosus in rats.

INTRODUCTION: Systemic lupus erythematosus (SLE) is a diverse autoimmune disease that arises from a combination of complex genetic factors and environmental influences. While circRNAs and miRNAs have recently been identified as promising biomarkers for disease diagnosis, their specific expression patterns, and clinical implications in SLE are not yet fully understood. AIM OF THE WORK: The aim of the present study was to determine the role of a panel of noncoding-RNAs specifically circRNAs (circ-TubD1, circ-CDC27, and circ-Med14), along with miRNA (rno-miR-146a-5p) and mRNA (TRAF6), as novel minimally invasive diagnostic biomarkers for experimentally induced SLE. Additionally, the study involved an insilico bioinformatics analysis to explore potential pathways involved in the pathogenesis of SLE, aiming to enhance our understanding of the disease, enable early diagnosis, and facilitate improved treatment strategies. MATERIALS AND METHODS: SLE was induced in rats using single IP injection of incomplete Freund's adjuvant (IFA). The Induction was confirmed by assessing the ANA and anti-ds DNA levels using ELSA technique. qPCR analysis was conducted to assess the expression of selected RNAs in sera collected from a group of 10 rats with induced SLE and a control group of 10 rats. In addition, bioinformatics and functional analysis were used to construct a circRNA-miRNA-mRNA network and to determine the potential function of these differentially expressed circRNAs. RESULTS: SLE rats demonstrated significantly higher expression levels of circ-CDC27, circ-Med14, and rno-miR-146a-5p as well as TRAF6, with lower expression level of circ-TubD1 in sera of SLE rats relative to controls. ROC curve analysis indicated that all the selected non-coding RNAs could serve as potential early diagnostic markers for SLE. In addition, the expression level of circ-TubD1 was negatively correlated with rno-miR-146a-5p, however, rno-miR-146a-5p was positively correlated with TRAF6. Bioinformatic analysis revealed the incorporation of the circRNAs targeted genes in various immune system and neurodegeneration pathways. CONCLUSIONS: Therefore, circRNAs; circ-TubD1, circ-CDC27, and circ-Med14, in addition to the miRNA (rno-miR-146a-5p) and mRNA (TRAF6) may be involved in the development of SLE and may have promising roles for future diagnosis and targeted therapy.

Kikuchi-Fujimoto Disease Preceding Overlap Syndrome of Sjögren's Syndrome and Systemic Lupus Erythematosus: Literature Review Based on a Case Report.

Kikuchi-Fujimoto disease (KFD) is a benign, self-limiting histiocytic necrotizing lymphadenitis systemic disorder with unknown etiology. KFD has been known for half a century, but difficulties in distinguishing it remain. Its diagnostic significance is related to the increasing prevalence of KFD with autoimmune diseases in various timeframes. Systemic lupus erythematosus (SLE) is the most prevalent autoimmune connective tissue disease (AICTD) appearing alongside KFD. An 18-year-old female presented with acute muscle weakness, shortness of breath, fever, and significant weight loss for 5 months before admission. Pain and morning joint stiffness had been felt for 9 months. One year ago, she lumped her right neck and was diagnosed with KFD from the excision biopsy and immunohistochemical staining (CD68). Creatine-kinase enzymes and C-Reactive protein were elevated with a high anti-Ku and anti-Jo-1 negative level. There was a low level of complements, high anti-nuclear antibody titer, with positive anti-SS-A. Sialometry and Schirmer test showed reduced salivary and lacrimal gland production. We diagnosed this patient as having an overlap syndrome preceded by KFD. The AICTD involved was Sjögren's syndrome and SLE. Although KFD is considered a self-limiting disease, its occurrence should be noticed regarding the possibility of other autoimmune conditions. KFD usually coincides with AICTD, although it could also precede or occur afterward. This case is reported to raise awareness of the overlap syndrome preceded by KFD.

Lupus mesenteric vasculitis with gastrointestinal bleeding as the primary manifestation: a case report.

Systemic lupus erythematosus (SLE) is a complex autoimmune disease where the body loses tolerance to its own antigens, particularly nuclear antigens. Abnormal responses from T and B cells lead to the production of autoantibodies and the formation of immune complexes in tissues, triggering complement activation, inflammation, and irreversible organ damage. SLE can affect any part of the body, resulting in diverse clinical symptoms. One rare manifestation of SLE is lupus mesenteric vasculitis (LMV), which presents with vague symptoms, abnormal laboratory findings, and specific imaging features. LMV, although uncommon, can progress to severe complications such as bowel perforation, haemorrhage, and even mortality. Here, we report a case of LMV with the involvement of multiple organ systems (including mucocutaneous, musculoskeletal, serosal cavities, and haematological systems), presenting initially with life-threatening intractable gastrointestinal bleeding, and complicated by severe pulmonary infection. By sharing this case, we aim to enhance clinicians' confidence in managing critical SLE cases and raise awareness about disease surveillance.

The retrospective evaluation of efficacy and safety data after switching from originator rituximab to biosimilar rituximab (CT-P10) in patients diagnosed with systemic lupus erythematosus: a single-center experience.

OBJECTIVE: In our study, we analyzed the efficacy and safety data of patients with systemic lupus erythematosus (SLE) after switching to biosimilar rituximab (RTX). PATIENTS AND METHODS: Twenty-two patients who switched to RTX were included in the study. Efficacy data were analyzed using the Systemic Lupus Erythematosus Disease Activity Index 2000 (SLEDAI-2K) score, and safety data were analyzed using the frequency of side effects. RESULTS: The mean treatment duration of originator RTX was 35.6 ± 23.0 months, and the median treatment duration of biosimilar RTX was 17 months. The SLEDAI-2K score, approximately three months after the first dose of biosimilar RTX, was significantly lower (p = 0.027). A statistically significant difference was found between the SLEDAI-2K score assessed at the follow-up visit three months after the last dose of originator RTX and the SLEDAI-2K score obtained approximately three months after the first dose of biosimilar RTX (p = 0.011) and the calculated median SLEDAI-2K score was significantly lower than the SLEDAI-2K score assessed after administration of originator RTX. The side effect frequency that developed during the treatment of originator RTX was 15.3 per 100 patient-years. The most common side effect was infection, which was 15.3 per 100 patient-years. The most frequent infection was urinary tract infection. The side effect frequency during treatment of biosimilar RTX was 39 per 100 patient-years, and the most frequent infection was pneumonia. CONCLUSIONS: In our study, SLEDAI-2K scores demonstrated that no efficacy loss was experienced after switching to CT-P10 molecule, which is a biosimilar RTX. It was observed that switching to biosimilar RTX did not decrease treatment efficacy in the patient group diagnosed with SLE and biosimilar RTX was found to be safe.

Predicting role of Myc-induced nuclear antigen 53 in determining the development and severity of systemic lupus erythematosus.

Introduction: Systemic lupus erythematosus (SLE) as an autoimmune disease can relate to an imbalance between regulatory T cells (Tregs) and Th17 cells. Previous reports have shown that Myc-induced nuclear antigen (Mina) 53 protein is involved in the developments of Tregs and Th17 cells. Therefore, the current study focused on determining whether Mina53 level is correlated to the severity of SLE. Methods: The blood samples were collected from 60 patients with SLE (30 cases with mild SLE and 30 cases with severe SLE) and 30 healthy subjects. The serum concentration of Mina53 was measured using enzyme-linked immunosorbent assay (ELISA). The expression of Mina53 gene was assessed using real-time PCR method after extracting RNA from isolated peripheral blood mononuclear cells and synthesizing cDNA. Results: Patients with SLE showed significant increases in the serum level and gene expression of Mina53 compared to healthy subjects (P<0.001). Furthermore, serum level and gene expression of Mina53 showed significant effects on SLE disease and its severity (P<0.01). There was the highest sensitivity and maximum specificity in the cut-off point of Mina53 serum level equal to 125.4 (area under the curve (AUC)=0.951) and Mina53 expression level equal to 8.5 (AUC=0.88) for SLE diagnosis. The cut-off point of Mina53 serum level equal to 139.5 (AUC=0.854) and the cut-off point of Mina53 expression level equal to 8.5 (AUC=0.788) had the highest sensitivity and maximum specificity determining severe forms of SLE. Discussion: Our results showed that the changes in serum and expression levels of Mina53 have significant effects on SLE disease and its severity. These levels may be considered as diagnostic and predictive markers for SLE.

The Variation of RhD Blood Group in Different Periods in a Patient with Systemic Lupus Erythematosus.

BACKGROUND: Autoimmune hemolytic anemia disease often produces a large number of various autoantibodies, and some autoantibodies may be related to Rh blood group. In rare cases, autoantibodies can specifically target Rh antigen, thus interfering with the identification of Rh blood group. METHODS: A case of systemic lupus erythematosus (SLE) with inconsistent RhD blood group identification results in different periods was reported and the reasons were analyzed. RESULTS: Some autoantibodies can completely block D antigen on red blood cells, resulting in no redundant D sites on red blood cells binding to reagent anti D. In addition, the immunity of the body is extremely low, and the expression of red blood cell blood group antigens in part of the body is inhibited, which will cause the weakening of the expression of Rh antigen in red blood cells. Therefore, when testing the RhD blood type of the patient, the reagent anti D does not agglutinate with the patient's red blood cells, and a false negative result of the initial screening appears. Through the RhD negative confirmation test, the patient's blood type is a serologically weak D phenotype. CONCLUSIONS: If the result of serological preliminary screening test is RhD negative or RhD variant, the recipient should be treated as RhD negative, and RhD negative red blood cells should be transfused during blood transfusion. Conditional laboratories can implement RHD genotyping, which is conducive to improving the precise blood transfusion management level of RhD negative blood recipients, saving rare blood resources and improving the treatment efficiency of patients.

Imaging of Pulmonary Manifestations of Connective Tissue Disease.

The majority of connective tissue diseases (CTDs) are multisystem disorders that are often heterogeneous in their presentation and do not have a single laboratory, histologic, or radiologic feature that is defined as the gold standard to support a specific diagnosis. Given this challenging situation, the diagnosis of CTD is a process that requires the synthesis of multidisciplinary data which may include patient clinical symptoms, serologic evaluation, laboratory testing, and imaging. Pulmonary manifestations of connective tissue disease include interstitial lung disease as well as multicompartmental manifestations. These CT imaging patterns and features of specific diseases will be discussed in this article.

Spontaneously Resolved Suspected Hemophagocytic Lymphohistiocytosis or Macrophage Activating Syndrome Associated with Neonatal Lupus Erythematosus: A Case Report.

OBJECTIVES: To present a rare case of neonatal lupus erythematosus (NLE) associated with suspected hemophagocytic lymphohistiocytosis (HLH) or macrophage activation syndrome (MAS). CASE PRESENTATION: A female infant weighing 2,995 g was born to a mother without medical history of any disease. At birth, the patient had erythematous papules on her face and trunk. She was admitted at 1 day of age with elevated C-reactive protein levels. The patient was diagnosed with NLE based on the presence of anti-Ro/SSA and anti-La/SSB antibodies. Thereafter, it became clear that the antibody levels in her mother were also elevated. At 20 days of age, the infant showed elevated transaminases, ferritin, triglyceride, and soluble interleukin-2 receptor levels. Although HLH or MAS was suspected, she did not fulfill the diagnostic criteria. Thereafter, these abnormal values spontaneously improved, and the skin rash improved with the use of topical steroids. The patient was discharged at 39 days of age. At 1 year of age, the patient's growth and development were normal. CONCLUSION: NLE should be considered in infants with an unexplained skin rash at birth. When a diagnosis is made, close observation of the infant's clinical features is needed to determine whether they will develop HLH or MAS.

Non-invasive detection of systemic lupus erythematosus using SERS serum detection technology and deep learning algorithms.

Systemic lupus erythematosus (SLE) is an autoimmune disease with multiple symptoms, and its rapid screening is the research focus of surface-enhanced Raman scattering (SERS) technology. In this study, gold@silver-porous silicon (Au@Ag-PSi) composite substrates were synthesized by electrochemical etching and in-situ reduction methods, which showed excellent sensitivity and accuracy in the detection of rhodamine 6G (R6G) and serum from SLE patients. SERS technology was combined with deep learning algorithms to model serum features using selected CNN, AlexNet, and RF models. 92 % accuracy was achieved in classifying SLE patients by CNN models, and the reliability of these models in accurately identifying sera was verified by ROC curve analysis. This study highlights the great potential of Au@Ag-PSi substrate in SERS detection and introduces a novel deep learning approach for SERS for accurate screening of SLE. The proposed method and composite substrate provide significant value for rapid, accurate, and noninvasive SLE screening and provide insights into SERS-based diagnostic techniques.

Bulk T-cell receptor sequencing confirms clonality in obstetric antiphospholipid syndrome and may as a potential biomarker.

The heterogeneity of the T cell receptor (TCR) repertoire critically influences the autoimmune response in obstetric antiphospholipid syndrome (OAPS) and is intimately associated with the prophylaxis of autoimmune disorders. Investigating the TCR diversity patterns in patients with OAPS is thus of paramount clinical importance. This investigation procured peripheral blood specimens from 31 individuals with OAPS, 21 patients diagnosed with systemic lupus erythematosus (SLE), and 22 healthy controls (HC), proceeding with TCR repertoire sequencing. Concurrently, adverse pregnancy outcomes in the OAPS cohort were monitored and documented over an 18-month timeframe. We paid particular attention to disparities in V/J gene utilisation and the prevalence of shared clonotypes amongst OAPS patients and the comparative groups. When juxtaposed with observations from healthy controls and SLE patients, immune repertoire sequencing disclosed irregular T- and B-cell profiles and a contraction of diversity within the OAPS group. Marked variances were found in the genomic rearrangements of the V gene, J gene, and V/J combinations. Utilising a specialised TCRß repertoire, we crafted a predictive model for OAPS classification with robust discriminative capability (AUC = 0.852). Our research unveils alterations in the TCR repertoire among OAPS patients for the first time, positing potential covert autoimmune underpinnings. These findings nominate the TCR repertoire as a prospective peripheral blood biomarker for the clinical diagnosis of OAPS and may offer valuable insights for advancing the understanding of OAPS immunologic mechanisms and prognostic outcomes.

Longitudinal assessment of urinary ALCAM, HPX, and PRDX6 in Korean patients with systemic lupus erythematosus: implications for disease activity monitoring and treatment response.

Introduction: This study aimed to demonstrate the potential of activated leukocyte cell adhesion molecule (ALCAM), hemopexin (HPX), and peroxiredoxin 6 (PRDX6) as urine biomarkers for systemic lupus erythematosus (SLE). Methods: Urine samples were collected from 138 Korean patients with SLE from the Ajou Lupus Cohort and 39 healthy controls (HC). The concentrations of urine biomarkers were analyzed using enzyme-linked immunosorbent assay kits specific for ALCAM, HPX, and PRDX6, respectively. Receiver operating characteristic (ROC) curve analysis was performed to evaluate the diagnostic utility, and Pearson's correlation analysis was conducted to assess the relationships between the disease activity and urine biomarkers. Results: Patients with SLE and patients with lupus nephritis (LN) showed significantly elevated ALCAM, HPX, and PRDX6 levels compared with HCs. ALCAM, HPX, and PRDX6 showed significant diagnostic values, especially for lupus nephritis (LN), with areas under the receiver operating characteristic curve for LN was 0.850 for ALCAM (95% CI, 0.778-0.921), 0.781 for HPX (95% CI, 0.695-0.867), and 0.714 for PRDX6 (95% CI, 0.617-0.812). Correlation analysis revealed that all proteins were significantly associated with anti-double stranded DNA antibody (ALCAM, r = 0.350, p < 0.001; HPX, r = 0.346, p < 0.001; PRDX6, r = 0.191, p = 0.026) and SLEDAI (ALCAM, r = 0.526, p < 0.001; HPX, r = 0.479, p < 0.001; PRDX6, r = 0.262, p = 0.002). Results from the follow-up of the three biomarker levels in these patients revealed a significant decrease, showing a positive correlation with changes in SLEDAI-2k scores (ALCAM, r = 0.502, p < 0.001; HPX, r = 0.475, p < 0.001; PRDX6, r = 0.245, p = 0.026), indicating their potential as indicators for tracking disease activity. Discussions: Urinary ALCAM, HPX, and PRDX6 levels have diagnostic value and reflect disease activity in Korean patients with SLE, emphasizing their potential for non-invasive monitoring and treatment response evaluation.