Abstract:
OBJECTIVES:Blau syndrome (BS) is a rare dominantly inherited autoinflammatory disorder associated with mutations in the nucleotide-binding oligomerization domain containing 2 (NOD2) gene. Biologic therapy of BS yielded diverse results. We aimed to evaluate clinical features and outcomes of Chinese patients with BS who were treated with tumor necrosis factor (TNF)α inhibitors. METHODS:A total of four patients with BS were diagnosed and treated with infliximab (IFX) at the Peking Union Medical College Hospital during 2015 to 2018 and were followed up for 18 months. All patients were systematically studied for treatment outcomes including the clinical manifestations and inflammatory markers. We also conducted a comprehensive literature review about TNFα inhibitor therapy in BS. RESULTS:Four BS patients were all Chinese Han, and three were women. The mean age of disease onset was 4 ± 3.5 years, and the mean time of diagnosis delay was 19 ± 11 years. All patients received IFX plus methotrexate, and all achieved clinical remission of skin lesions and polyarthritis rapidly, as well as normalization of erythrocyte sedimentation rate and C-reactive protein and improvements in inflammatory cytokines, patient visual analogue scale, physician global assessment, and Short Form (SF)-36, at the first follow-up of 6 months. The disease relapsed in two patients after they lengthened the interval of IFX and discontinued methotrexate. According to the 38 English-language publications, 62 patients with BS were reported who underwent TNFα inhibitor therapy, including IFX used in 31, adalimumab in 24, and etanercept in 7. IFX was well tolerated in 27 patients, while 2 still had uveitis, and the other 2 experienced an adverse drug reaction. CONCLUSIONS:Early recognition and effective treatment of BS are very important to avoid irreversible organ damage. TNFα inhibitors such as IFX may be a promising approach for BS patients who have unsatisfactory response to corticosteroids and traditional disease-modifying antirheumatic drugs.
journal_name
Arthritis Res Therjournal_title
Arthritis research & therapyauthors
Chen J,Luo Y,Zhao M,Wu D,Yang Y,Zhang W,Shen Mdoi
10.1186/s13075-019-2017-5subject
Has Abstractpub_date
2019-11-12 00:00:00pages
236issue
1eissn
1478-6354issn
1478-6362pii
10.1186/s13075-019-2017-5journal_volume
21pub_type
杂志文章,评审abstract:INTRODUCTION:Surfactant protein D (SP-D) is a collectin with immuno-regulatory functions, which may depend on oligomerization. Anti-microbial and anti-inflammatory properties have been attributed to multimeric SP-D variants, while trimeric subunits per se have been suggested to enhance inflammation. Previously, we repo...
journal_title:Arthritis research & therapy
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1186/ar2948
更新日期:2010-01-01 00:00:00
abstract:BACKGROUND:Here we integrate verified signals from previous genetic association studies with gene expression and pathway analysis for discovery of new candidate genes and signaling networks, relevant for rheumatoid arthritis (RA). METHOD:RNA-sequencing-(RNA-seq)-based expression analysis of 377 genes from previously v...
journal_title:Arthritis research & therapy
pub_type: 杂志文章
doi:10.1186/s13075-017-1220-5
更新日期:2017-02-02 00:00:00
abstract::Obesity is one of the main risk factors for osteoarthritis (OA) and due to the global rise in obesity this will increasingly contribute to OA development. The article of Griffin and co-workers in this issue of Arthritis Research and Therapy shows that a high-fat diet leads to obesity and OA in the studied animals and ...
journal_title:Arthritis research & therapy
pub_type: 评论,社论
doi:10.1186/ar3082
更新日期:2010-01-01 00:00:00
abstract:INTRODUCTION:Systemic lupus erythematosus (SLE) is an autoimmune disorder characterized by production of autoantibodies and immune complex deposition in various organs. Aberrations in the T lymphocyte compartment and dysregulated cytokine production are key features of SLE pathogenesis and disease progression. Recently...
journal_title:Arthritis research & therapy
pub_type: 杂志文章
doi:10.1186/ar3194
更新日期:2010-01-01 00:00:00
abstract::A variety of cytokines and growth factors use the Janus kinase (Jak)-STAT signaling pathway to transmit extracellular signals to the nucleus. STATs (signal transducers and activators of transcription) are latent cytoplasmic transcription factors. There are seven mammalian STATs and they have critical, nonredundant rol...
journal_title:Arthritis research & therapy
pub_type: 杂志文章,评审
doi:10.1186/ar1197
更新日期:2004-01-01 00:00:00
abstract::Dysregulated psychophysiological responses have been observed in patients with fibromyalgia syndrome (FMS), although the results are inconsistent. Surface electromyographic (EMG), systolic and diastolic blood pressure, heart rate (HR), and skin conductance levels (SCLs) were continuously recorded at baseline, and duri...
journal_title:Arthritis research & therapy
pub_type: 杂志文章
doi:10.1186/ar1863
更新日期:2006-01-01 00:00:00
abstract::The relationship between serum urate, menopause, and aging has not been clearly defined by scientific evidence. In the present issue of Arthritis Research and Therapy, Hak and Choi present a cross-sectional analysis to clarify the effect of menopause and hormone replacement therapy on serum urate in women within the T...
journal_title:Arthritis research & therapy
pub_type: 评论,社论
doi:10.1186/ar2524
更新日期:2008-01-01 00:00:00
abstract::Susceptibility for giant cell arteritis increases with chronological age, in parallel with age-related restructuring of the immune system and age-induced remodeling of the vascular wall. Immunosenescence results in shrinkage of the naïve T-cell pool, contraction of T-cell diversity, and impairment of innate immunity. ...
journal_title:Arthritis research & therapy
pub_type: 杂志文章,评审
doi:10.1186/ar3358
更新日期:2011-08-02 00:00:00
abstract:INTRODUCTION:Broad-range rDNA PCR provides an alternative, cultivation-independent approach for identifying bacterial DNA in reactive and other form of arthritis. The aim of this study was to use broad-range rDNA PCR targeting the 16S rRNA gene in patients with reactive and other forms of arthritis and to screen for th...
journal_title:Arthritis research & therapy
pub_type: 杂志文章
doi:10.1186/ar2748
更新日期:2009-01-01 00:00:00
abstract:INTRODUCTION:The major histocompatibility complex (H-2d) and non-major histocompatibility complex genetic backgrounds make the BALB/c strain highly susceptible to inflammatory arthritis and spondylitis. Although different BALB/c colonies develop proteoglycan-induced arthritis and proteoglycan-induced spondylitis in res...
journal_title:Arthritis research & therapy
pub_type: 杂志文章
doi:10.1186/ar2613
更新日期:2009-01-01 00:00:00
abstract::Cartilage damage in osteoarthritis (OA) is considered an imbalance between catabolic and anabolic factors, favoring the catabolic side. We assessed whether adenoviral overexpression of transforming growth factor-beta (TGFbeta) enhanced cartilage repair and whether TGFbeta-induced fibrosis was blocked by local expressi...
journal_title:Arthritis research & therapy
pub_type: 杂志文章
doi:10.1186/ar1931
更新日期:2006-01-01 00:00:00
abstract:INTRODUCTION:Pateclizumab (MLTA3698A) is a humanized mAb against lymphotoxin α (LTα), a transiently expressed cytokine on activated B and T cells (Th1, Th17), which are implicated in rheumatoid arthritis (RA) pathogenesis. This study was conducted to assess the safety, tolerability, < NOTE: For clarity and per AMA/S-W ...
journal_title:Arthritis research & therapy
pub_type: 杂志文章,随机对照试验
doi:10.1186/ar3554
更新日期:2012-01-08 00:00:00
abstract::Pleiotropic effects are now described for the 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitors (or statins) that might have utility in the context of chronic inflammatory autoimmune disease. Here we discuss the pharmacology and established uses of statins and in this context describe potential anti-inflammat...
journal_title:Arthritis research & therapy
pub_type: 杂志文章,评审
doi:10.1186/ar1496
更新日期:2005-01-01 00:00:00
abstract:BACKGROUND:Differential diagnosis among psoriatic arthritis (PsA) and seronegative rheumatoid arthritis (Abneg RA) can be challenging particularly in the clinical setting of peripheral phenotype and autoantibodies seronegativity. The aim of the study was to identify synovial tissue (ST) biomarkers differentially expres...
journal_title:Arthritis research & therapy
pub_type: 杂志文章
doi:10.1186/s13075-019-1898-7
更新日期:2019-05-09 00:00:00
abstract::Ankylosing spondylitis (AS) is a member of the family of spondyloarthropathies, which are inflammatory arthritides largely involving the axial skeleton and commonly accompanied by peripheral arthritis. Genetic factors, particularly the presence of HLA-B27, are major contributors to the susceptibility for AS. Despite s...
journal_title:Arthritis research & therapy
pub_type: 杂志文章,评审
doi:10.1186/ar1012
更新日期:2004-01-01 00:00:00
abstract:INTRODUCTION:Brain-derived neurotrophic factor (BDNF) was first identified in the intervertebral disc (IVD) when its molecular upregulation was observed in sections of nucleus pulposus cultured under conditions of increased osmolarity. BDNF is now known to be involved in a number of biologic functions, including regula...
journal_title:Arthritis research & therapy
pub_type: 杂志文章
doi:10.1186/ar2456
更新日期:2008-01-01 00:00:00
abstract:INTRODUCTION:Autoantibodies in patients with polymyositis/dermatomyositis (PM/DM) are associated with unique subsets, clinical course and outcome. Anti-MJ antibodies, which recognize the nuclear protein NXP-2/MORC3, are reported in ~25% of juvenile DM. Prevalence and clinical significance of anti-MJ antibodies in adult...
journal_title:Arthritis research & therapy
pub_type: 杂志文章
doi:10.1186/ar3822
更新日期:2012-04-30 00:00:00
abstract:OBJECTIVES:To assess whether age, at the beginning of biologic treatment, is associated with the time a first adverse event (AE) appears in patients with rheumatoid arthritis (RA), ankylosing spondylitis (AS), or psoriatic arthritis (PsA). METHODS:All patients in the BIOBADASER registry diagnosed with RA, AS, and PsA,...
journal_title:Arthritis research & therapy
pub_type: 杂志文章
doi:10.1186/s13075-020-02231-x
更新日期:2020-06-15 00:00:00
abstract:INTRODUCTION:The arthritis-specific Work Productivity Survey (WPS) was developed to evaluate productivity limitations associated with arthritis within and outside the home. There is an unmet need for an instrument assessing similar productivity limitations in axial spondyloarthritis (axSpA), including nonradiographic a...
journal_title:Arthritis research & therapy
pub_type: 杂志文章,随机对照试验
doi:10.1186/ar4680
更新日期:2014-08-06 00:00:00
abstract:INTRODUCTION:The aim of this study was to test the naturally occurring organosulfur compound dipropyltetrasulfide (DPTTS), found in plants, which has antibiotic and anticancer properties, as a treatment for HOCl-induced systemic sclerosis in the mouse. METHODS:The prooxidative, antiproliferative, and cytotoxic effects...
journal_title:Arthritis research & therapy
pub_type: 杂志文章
doi:10.1186/ar4351
更新日期:2013-10-28 00:00:00
abstract:INTRODUCTION:Soft tissue knee injury is a well-established and potent risk factor for development of knee osteoarthritis. However, there is a paucity of epidemiological data from the general population. Our aim was to estimate the annual person-level incidence for a wide spectrum of clinically diagnosed soft tissue kne...
journal_title:Arthritis research & therapy
pub_type: 杂志文章
doi:10.1186/ar4678
更新日期:2014-07-31 00:00:00
abstract:BACKGROUND:In this study, we evaluated the impact of obesity and/or overweight on the achievement of minimal disease activity (MDA) in patients with psoriatic arthritis (PsA) and patients with rheumatoid arthritis (RA) receiving an anti-rheumatic treatment. Obesity can be considered a low-grade, chronic systemic inflam...
journal_title:Arthritis research & therapy
pub_type: 杂志文章,meta分析,评审
doi:10.1186/s13075-016-1194-8
更新日期:2016-12-13 00:00:00
abstract::Osteoporosis results from a loss of bone mass and bone structure such that the bone becomes weak and fractures with very little trauma. Until recently, the approved osteoporosis therapies prevented more bone loss by altering osteoclast activity and lifespan. Recently, attention has turned away from osteoclast inhibiti...
journal_title:Arthritis research & therapy
pub_type: 杂志文章,评审
doi:10.1186/ar797
更新日期:2003-01-01 00:00:00
abstract::The accumulation of T cells in the synovial membrane is the crucial step in the pathophysiology of the inflammatory processes characterizing juvenile idiopathic arthritis (JIA). In this study, we evaluated the expression and the pathogenetic role in oligoarticular JIA of a CXC chemokine involved in the directional mig...
journal_title:Arthritis research & therapy
pub_type: 杂志文章
doi:10.1186/ar1481
更新日期:2005-01-01 00:00:00
abstract:INTRODUCTION:Evaluation of disease severity in experimental models of rheumatoid arthritis is inevitably associated with assessment of structural bone damage. A noninvasive imaging technology allowing objective quantification of pathophysiological alterations of bone structure in rodents could substantially extend the ...
journal_title:Arthritis research & therapy
pub_type: 杂志文章
doi:10.1186/ar4670
更新日期:2014-07-22 00:00:00
abstract::The development of spontaneous autoimmunity in inbred strains of rodents has allowed us to investigate the molecular basis of chronic inflammatory disease in ways that would not be possible in humans. Recently, two new mouse models of autoimmune inflammatory polyarthritis have been reported that demonstrate how altera...
journal_title:Arthritis research & therapy
pub_type: 杂志文章,评审
doi:10.1186/ar1185
更新日期:2004-01-01 00:00:00
abstract:INTRODUCTION:Systemic sclerosis (SSc) is a connective tissue disease characterized by fibrosis of the skin and organs. Increase in oxidative stress and platelet-derived growth factor receptor (PDGFR) activation promote collagen I (Col I) production, leading to fibrosis in SSc. Lipoic acid (LA) and its active metabolite...
journal_title:Arthritis research & therapy
pub_type: 杂志文章
doi:10.1186/s13075-014-0411-6
更新日期:2014-01-01 00:00:00
abstract:BACKGROUND:Rheumatoid arthritis-associated interstitial lung disease (RA-ILD) is a sometimes life-threatening complication in RA patients. SKG mice develop not only arthritis but also an ILD resembling RA-ILD. We previously reported that tofacitinib, a JAK inhibitor, facilitates the expansion of myeloid-derived suppres...
journal_title:Arthritis research & therapy
pub_type: 杂志文章
doi:10.1186/s13075-019-1963-2
更新日期:2019-08-06 00:00:00
abstract:INTRODUCTION:The important functions of the meniscus are shock absorption, passive stabilization and load transmission of the knee. Because of the avascularity of two-thirds of the meniscal center region, the treatment of tears in this area is hard. Recently, microRNAs have been proven to play an important role in the ...
journal_title:Arthritis research & therapy
pub_type: 杂志文章
doi:10.1186/s13075-014-0488-y
更新日期:2014-11-28 00:00:00
abstract::Advanced imaging techniques may enable early diagnosis and monitoring of therapy in various rheumatic diseases. To prevent irreversible tissue damage, inflammatory rheumatic disease must be diagnosed and treated in pre-clinical stages, requiring highly sensitive detection techniques. Positron emission tomography (PET)...
journal_title:Arthritis research & therapy
pub_type: 杂志文章,评审
doi:10.1186/s13075-014-0423-2
更新日期:2014-01-01 00:00:00