Evaluation of the association between KIR polymorphisms and systemic sclerosis : a meta-analysis

Background: The results of investigations on the association between killer cell immunoglobulin-like receptor (KIR) gene polymorphisms and the risk of systemic sclerosis (SSc) are inconsistent. To comprehensively evaluate the influence of KIR polymorphisms on the risk of SSc, this meta-analysis was performed. Methods: A systematic literature search was performed in electronic databases including Scopus and PubMed/ MEDLINE to find all available studies involving KIR gene family polymorphisms and SSc risk prior to July 2019. Pooled odds ratios (ORs) and their corresponding 95% confidence intervals (CIs) were measured to detect associations between KIR gene family polymorphisms and SSc risk. Results: Five articles, comprising 571 patients and 796 healthy participants, evaluating the KIR gene family polymorphisms were included in the final meta-analysis according to the inclusion and exclusion criteria, and 16 KIR genes were assessed. None of the KIR genes were significantly associated with the risk of SSc. Conclusions: The current meta-analysis provides evidence that KIR genes might not be potential risk factors for SSc risk

Subacute bacterial endocarditis with vasculitis-like presentation; report of a case and literature review

Infective endocarditis is a diagnostic challenge since it could manifest as a systemic disease mimicking rheumatologic disorders by immunological mechanisms. We introduced a case of infective endocarditis which was a 62-year-old man who presented with weakness, weight loss, myalgia, arthritis, petechiae, hematuria and proteinuria and was admitted by a rheumatologist for evaluation of possible vasculitis

New‐onset ANCA‐associated vasculitis presenting with neuropathy after COVID‐19 infection: A case report and literature review

Key Clinical Message Coronavirus Disease 2019 (COVID‐19) is a viral infection caused by SARS‐CoV‐2, which can trigger autoimmune diseases such as antineutrophilic cytoplasmic antibody (ANCA) associated vasculitis (AAV) that affect small and medium‐sized blood vessels in multiple organs. This study discusses a case with neuropathy and positive ANCA after COVID‐19 infection and reviews the literature on AAV following COVID‐19 infection. A 59‐year‐old man is presented that was referred to Shariati Hospital for evaluation of neurologic problems after a COVID‐19 infection. Initially, he had flu‐like symptoms. A few days later, he developed right distal upper and lower limb paresthesia. His electromyography (EMG) and nerve conduction velocity (NCV) results were consistent with polyneuropathy. Lumbar puncture (LP) was normal except for positive COVID‐19 polymerase chain reaction (PCR). The patient's paresthesia worsened. Laboratory data showed leukocytosis, anemia, thrombocytosis, high erythrocyte sedimentation rate (ESR), and C‐reactive protein (CRP). Perinuclear anti‐neutrophil cytoplasmic antibody (MPO‐ANCA) was positive. According to the results, vasculitis was the main differential diagnosis. The sural nerve biopsy was performed, and the result was consistent with small to medium‐sized vessel vasculitis. The patient was diagnosed with COVID‐induced AAV. He was prescribed methylprednisolone and cyclophosphamide and was discharged with prednisolone and cotrimoxazole. In this study, a unique case of AAV induced by COVID‐19 infection confirmed by nerve biopsy is presented. A review of the literature found 48 cases of new‐onset AAV in adults and pediatrics after COVID‐19 infection. Further research is needed to completely understand the relationship between COVID‐19

Analysis of the genetic component of systemic sclerosis in Iranian and Turkish populations through a genome-wide association study

WOS: 000459631600018PubMed ID: 30247649Objectives. SSc is an autoimmune disease characterized by alteration of the immune response, vasculopathy and fibrosis. Most genetic studies on SSc have been performed in European-ancestry populations. The aim of this study was to analyse the genetic component of SSc in Middle Eastern patients from Iran and Turkey through a genome-wide association study. Methods. This study analysed data from a total of 834 patients diagnosed with SSc and 1455 healthy controls from Iran and Turkey. DNA was genotyped using high-throughput genotyping platforms. The data generated were imputed using the Michigan Imputation Server, and the Haplotype Reference Consortium as a reference panel. A meta-analysis combining both case-control sets was conducted by the inverse variance method. Results. The highest peak of association belonged to the HLA region in both the Iranian and Turkish populations. Strong and independent associations between the classical alleles HLA-DRB1*11:04 [P = 2.10 x 10(-24), odds ratio (OR) = 3.14] and DPB1*13:01 (P = 5.37 x 10(-14), OR = 5.75) and SSc were observed in the Iranian population. HLA-DRB1*11:04 (P = 4.90 x 10(-11), OR = 2.93) was the only independent signal associated in the Turkish cohort. An omnibus test yielded HLA-DRB1 58 and HLA-DPB1 76 as relevant amino acid positions for this disease. Concerning the meta-analysis, we also identified two associations close to the genome-wide significance level outside the HLA region, corresponding to IRF5-TNPO3 rs17424921-C (P = 1.34 x 10(-7), OR = 1.68) and NFKB1 rs4648133-C (P = 3.11 x 10(-7), OR = 1.47). Conclusion. We identified significant associations in the HLA region and suggestive associations in IRF5-TNPO3 and NFKB1 loci in Iranian and Turkish patients affected by SSc through a genome-wide association study and an extensive HLA analysis.Spanish Ministry of Economy and Competitiveness [SAF2015-66761-P]; Cooperative Research Thematic Network (RETICS) program, from the Instituto de Salud Carlos III (ISCIII, Health Ministry, Madrid, Spain) [RD16/0012/0004]This work was supported by the Spanish Ministry of Economy and Competitiveness [SAF2015-66761-P to J.M. and SAF2015-66761-P to D.G.S.] and The Cooperative Research Thematic Network (RETICS) program, from the Instituto de Salud Carlos III (ISCIII, Health Ministry, Madrid, Spain) [RD16/0012/0004]

Analysis of the genetic component of systemic sclerosis in Iranian and Turkish populations through a genome-wide association study

Objectives. SSc is an autoimmune disease characterized by alteration of the immune response, vasculopathy and fibrosis. Most genetic studies on SSc have been performed in European-ancestry populations. The aim of this study was to analyse the genetic component of SSc in Middle Eastern patients from Iran and Turkey through a genome-wide association study.Methods. This study analysed data from a total of 834 patients diagnosed with SSc and 1455 healthy controls from Iran and Turkey. DNA was genotyped using high-throughput genotyping platforms. The data generated were imputed using the Michigan Imputation Server, and the Haplotype Reference Consortium as a reference panel. A meta-analysis combining both case-control sets was conducted by the inverse variance method.Results. The highest peak of association belonged to the HLA region in both the Iranian and Turkish populations. Strong and independent associations between the classical alleles HLA-DRB1*11:04 [P = 2.10 x 10(-24), odds ratio (OR) = 3.14] and DPB1*13:01 (P = 5.37 x 10(-14), OR = 5.75) and SSc were observed in the Iranian population. HLA-DRB1*11:04 (P = 4.90 x 10(-11), OR = 2.93) was the only independent signal associated in the Turkish cohort. An omnibus test yielded HLA-DRB1 58 and HLA-DPB1 76 as relevant amino acid positions for this disease. Concerning the meta-analysis, we also identified two associations close to the genome-wide significance level outside the HLA region, corresponding to IRF5-TNPO3 rs17424921-C (P = 1.34 x 10(-7), OR = 1.68) and NFKB1 rs4648133-C (P = 3.11 x 10(-7), OR = 1.47).Conclusion. We identified significant associations in the HLA region and suggestive associations in IRF5-TNPO3 and NFKB1 loci in Iranian and Turkish patients affected by SSc through a genome-wide association study and an extensive HLA analysis

The phenotype of mixed connective tissue disease patients having associated interstitial lung disease

International audienceObjectiveWe aimed to compare two matched populations of patients with MTCD with and without associated ILD and to identify predictive factors for ILD progression and severity.MethodsThis international multicenter retrospective study (14 tertiary hospitals), included MCTD patients who fulfilled at least one historical MCTD classification criteria. ILD was defined by the presence of typical chest high-resolution computed tomography (HRCT) abnormalities. Factors associated with ILD were assessed at baseline. Long-term progressive ILD was assessed in MCTD-ILD patients with multiple forced vital capacity (FVC) measurements.Results300 patients with MCTD were included. Mean age at diagnosis was 39.7 ± 15.4 years and 191 (63.7%) were women. Mean follow-up was 7.8 ± 5.5 years. At baseline, we identified several factors associated with ILD presence: older age (p = 0.01), skin thickening (p = 0.03), upper gastro-intestinal (GI) symptoms (p10%. During follow-up mortality was higher in the MTCD-ILD group (p<0.001).ConclusionIn this large international cohort of patients with MTCD, we identified different factors associated with ILD. Our findings also provide evidence that MCTD-ILD patients have increased mortality and that DU are associated with progressive lung disease