Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases

CONCLUSIONS In patients with elevated IRG-S, we identified characteristic clinical features and 3 additional autoinflammatory diseases: IL-18–mediated PAP and recurrent MAS (IL-18PAP-MAS), NEMO deleted exon 5–autoinflammatory syndrome (NEMO-NDAS), and SAMD9L-associated autoinflammatory disease (SAMD9L-SAAD). The IRG-S expands the diagnostic armamentarium in evaluating USAIDs and points to different pathways regulating IRG expression.TRIAL REGISTRATION ClinicalTrials.gov NCT02974595.FUNDING The Intramural Research Program of the NIH, NIAID, NIAMS, and the Clinical Center.
Source: Journal of Clinical Investigation - Category: Biomedical Science Authors: Source Type: research

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ConclusionThe spectrum of IIM in our cohort of mainly African blacks is similar to other studies, with OM being the most frequent subtype.Key Points• As there is limited information on idiopathic inflammatory myopathies (IIM) in sub-Saharan Africa, this study reports the spectrum of IIM in a South African cohort of predominantly African blacks.• Our patients were younger at diagnosis, and overlap myositis was the most common phenotype.• Comparisons with other studies show similarities in the manifestations of IIM.
Source: Clinical Rheumatology - Category: Rheumatology Source Type: research
AbstractA 56 ‐year‐old woman with a previous history for a dermatomyositis/scleroderma overlap with positive PM‐Scl 75/100 kDa was admitted due to a severe myopathy flare. Her disease had been characterized by Raynaud’s phenomenon, extensive calcinosis cutis, mild interstitial lung disease, creatine kina se elevation and proximal muscle weakness.
Source: Arthritis and Rheumatology - Category: Rheumatology Authors: Tags: CLINICAL IMAGE Source Type: research
In this study, a combined immunosuppressive regimen of high-dose glucocorticoids, tacrolimus and intravenous cyclophosphamide proved more effective than treatment with high-dose glucocorticoids and stepwise addition of an immunosuppressant in a historical control group.
Source: The Rheumatologist - Category: Rheumatology Authors: Tags: Conditions Arthritis & Rheumatology dermatomyositis (DM) ILD interstitial lung disease (ILD) Source Type: research
ConclusionsMost KS-ILD patients showed a tendency for chronic disease onset and long-term stabilization of pulmonary function.
Source: Respiratory Investigation - Category: Respiratory Medicine Source Type: research
Publication date: Available online 15 February 2020Source: Best Practice &Research Clinical RheumatologyAuthor(s): Lucas L. van den Hoogen, Jacob M. van LaarAbstractTargeted therapies using biological disease-modifying antirheumatic drugs (bDMARDs) and small molecule synthetic drugs have revolutionized rheumatological practice. Initially developed for the treatment of immune arthritis (rheumatoid arthritis, psoriatic arthritis, and spondylarthritis), both bDMARDs and small molecule synthetic drugs are now increasingly entering the space of connective tissue disease (CTD) treatment. Recent clinical trial data in systemi...
Source: Best Practice and Research Clinical Rheumatology - Category: Rheumatology Source Type: research
CONCLUSIONS: This study indicated that the prevalence of ILD was high in CADM. Asymptomatic ILD has been previously underestimated. Anti-MDA5 was a risk factor for the presence of A/SIP, and CYFRA21-1 was a risk factor for ILD. PMID: 32049748 [PubMed - as supplied by publisher]
Source: Chinese Medical Journal - Category: General Medicine Authors: Tags: Chin Med J (Engl) Source Type: research
Authors: Kori M, Awano N, Inomata M, Kuse N, Tone M, Yoshimura H, Jo T, Takada K, Kumasaka T, Takemura T, Izumo T Abstract We herein report a case of anti-MDA5 antibody-positive, clinically amyopathic dermatomyositis complicated by unilateral interstitial lung disease (ILD) in a 78-year-old man with a history of left lung tumor resection. He was admitted due to a persistent fever and abnormal right pulmonary opacity. A transbronchial lung cryobiopsy revealed pulmonary fibrosis, and combined immunosuppressive therapy was initiated. Findings from multiple evaluations, including dynamic breathing magnetic resonance im...
Source: Internal Medicine - Category: Internal Medicine Tags: Intern Med Source Type: research
We report a patient with anti-MDA5 Ab-positive RP-ILD who was refractory to intensive therapies including steroids, cyclosporine, and intravenous cyclophosphamide, and then treated by PE to prevent the progression of RP-ILD. Shortly after the initiation of PE therapy, however, his respiratory condition suddenly deteriorated due to acute pulmonary edema and the patient died on the following day. Transfusion-related acute lung injury (TRALI) would be the most likely cause of the acute pulmonary edema because there was no sign of circulatory overload. To the best of our knowledge, this is the first report showing a critical a...
Source: Respiratory Medicine Case Reports - Category: Respiratory Medicine Source Type: research
Authors: Lyu W, Zhou Y, Zhuang Y, Liu Y, Cao M, Xin X, Wu H, Wang J, Meng F, Cai H, Dai J Abstract OBJECTIVES: To investigate the associations between serum levels of matrix metalloproteinase 7 (MMP7), surfactant protein D (SPD), interleukin 18 (IL-18) and chemokine ligand 18 (CCL18) with dermatomyositis and polymyositis-associated interstitial lung disease (DM/PM-ILD) and evaluate their prognostic values in the disease. METHODS: Seventy-eight patients with multiple disciplinary team diagnosis of DM/PM-ILD were enrolled and classified as anti-melanoma differentiation-associated protein 5 antibody (MDA5)-ILD, an...
Source: Clinical and Experimental Rheumatology - Category: Rheumatology Tags: Clin Exp Rheumatol Source Type: research
PMID: 31923118 [PubMed - in process]
Source: Chinese Medical Journal - Category: General Medicine Authors: Tags: Chin Med J (Engl) Source Type: research
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