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Hla-B27

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https://www.readbyqxmd.com/read/29778423/genetic-variants-of-treml2-are-associated-with-hla-b27-positive-ankylosing-spondylitis
#1
Yuan Feng, Yaqiang Hong, Xin Zhang, Chunwei Cao, Xichao Yang, Shujuan Lai, Chunmei Fan, Feng Cheng, Mei Yan, Chaohua Li, Wan Huang, Wei Chen, Ping Zhu, Changqing Zeng
Although ankylosing spondylitis (AS) is a common, highly heritable arthropathy, the precise genetic mechanism underlying the disease remains elusive. Here, we investigate the disease-causing mutations in a large AS family with distinguished complexity, consisting of 23 patients covering four generations and exhibiting a mixed HLA-B27 (+) and (-) status. Linkage analysis with 32 members using three methods and whole-exome sequencing analysis with three HLA-B27 (+) patients, one HLA-B27 (-) patient, and one healthy individual did not identify a mutation common to all of the patients, strongly suggesting the existence of genetic heterogeneity in this large pedigree...
May 17, 2018: Gene
https://www.readbyqxmd.com/read/29767341/-spondyloarthritis
#2
REVIEW
U Syrbe, X Baraliakos
Spondyloarthritis (SpA) describes the group of inflammatory diseases characterized by inflammation within axial joints and/or peripheral arthritis, enthesitis, and dactylitis. Disease development is strongly determined by genes and particularly associated with the presence of HLA-B27. Transgenic expression in animal models leads to induction of a SpA-like disease, suggesting a direct effect of HLA-B27 on disease development. Genome-wide association studies in SpA patients have identified further associations between polymorphisms in genes with an immune function, in particular in genes controlling the interleukin (IL)-23/IL-17 signaling pathway...
May 16, 2018: Zeitschrift Für Rheumatologie
https://www.readbyqxmd.com/read/29759124/the-seronegative-spondyloarthropathies
#3
REVIEW
Ayyappa S Duba, Stephanie D Mathew
The seronegative spondyloarthropathies are a group of five diseases characterized by inflammatory oligoarticular arthritis, enthesitis, and axial involvement. They have an increased incidence of the HLA-B27 gene. They are commonly associated with extra-articular features including involvement of the skin, eyes, and gastrointestinal tract. Early recognition and referral are key to limit disability, and comanagement with primary care and rheumatology offers the best outcomes.
June 2018: Primary Care
https://www.readbyqxmd.com/read/29751976/high-prevalence-of-hidradenitis-suppurativa-symptoms-in-axial-spondyloarthritis-patients-a-possible-new-extra-articular-manifestation
#4
Angelique Rondags, Suzanne Arends, Freke R Wink, Barbara Horváth, Anneke Spoorenberg
BACKGROUND: Spondyloarthritis (SpA), a chronic inflammatory, rheumatic disease, and hidradenitis suppurativa (HS), a chronic, debilitating, inflammatory skin disease, share several clinical and pathophysiological features, such as the association with inflammatory bowel disease and elevated cytokine levels IL-17 and TNF-α. Recently, SpA was reported to be more prevalent (2.3-28.2%) in patients with HS than in the general population. Conversely, the prevalence of HS in SpA is not exactly known...
March 20, 2018: Seminars in Arthritis and Rheumatism
https://www.readbyqxmd.com/read/29745878/should-over-treatment-of-axial-spondyloarthritis-with-biologics-remain-a-concern-after-the-issue-of-the-new-asas-criteria-data-from-regisponserbio-spanish-register-of-biological-therapy-in-spondyloarthritides
#5
Mireia Moreno, Jordi Gratacós, Victoria Navarro-Compán, Eugenio de Miguel, Pilar Font, Teresa Clavaguera, Luis Francisco Linares, Beatriz Joven, Xavier Juanola
OBJECTIVES: To study whether disease status at treatment initiation has changed after the issue of the ASAS classification criteria. METHODS: REGISPONSERBIO registers patients with axial spondyloarthritis (axSpA) on biological treatment since 2013. It includes patients starting biological treatment (incident) or already on biological therapies (prevalent). Patients in both groups were compared in terms of: age at disease onset and at treatment start, disease duration, gender, HLA-B27, body mass index (BMI), BASDAI, BASFI, C-reactive protein, ESR, metrological data, ASQoL, WAPAI, extra-articular manifestations, comorbidities, radiological study, type of biological treatment and concomitant treatments...
May 8, 2018: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29715366/differential-cxc-and-cx3c-chemokine-expression-profiles-in-aqueous-humor-of-patients-with-specific-endogenous-uveitic-entities
#6
Ahmed M Abu El-Asrar, Nele Berghmans, Saleh A Al-Obeidan, Priscilla W Gikandi, Ghislain Opdenakker, Jo Van Damme, Sofie Struyf
Purpose: To determine the levels of the neutrophil chemoattractants CXCL1, CXCL2, CXCL5, CXCL6, and CXCL8, the T helper 1 chemoattractants CXCL9, CXCL10 and CXCL11, the lymphoid chemokines CXCL12 and CXCL13 and the soluble form of the transmembrane chemokines CXCL16 and CX3CL1, in aqueous humor samples from patients with specific uveitic entities. Methods: Aqueous humor samples from patients with active uveitis associated with Behçet's disease (n = 13), sarcoidosis (n = 8), HLA-B27-related inflammation (n = 12), Vogt-Koyanagi-Harada (VKH) disease (n = 12), and healthy controls (n = 9) were assayed with the use of a multiplex assay...
May 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29705838/potential-predictors-for-frequent-relapse-in-human-leukocyte-antigen-b27-associated-uveitis
#7
Mirinae Kim, Yoon Seob Sim, Seung Yong Choi, Young-Hoon Park
PURPOSE: To identify potential predictors for frequent relapse in a cohort of patients with human leukocyte antigen (HLA)-B27-associated uveitis in a tertiary referral center at the initial visit. METHODS: This retrospective cohort study comprised 130 patients diagnosed with HLA-B27-associated uveitis. Subjects were divided into two groups according to the frequency of uveitis attacks (number/year): frequent relapse (FR) (who relapsed more than twice a year, 38) and infrequent relapse (IR) group (who relapsed twice or less than twice a year, 92)...
April 29, 2018: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/29702496/quantifying-the-genetic-risk-for-the-development-of-axial-spondyloarthropathy-could-this-become-a-diagnostic-tool
#8
Bryan P Wordsworth, Carla J Cohen, Matteo Vecellio
PURPOSE OF REVIEW: To assess the utility of recent genetic findings in ankylosing spondylitis (AS) and axial spondyloarthropathy (SpA) in relation to diagnostic testing, prognosis and responses to biologic treatment and the development of new therapies. RECENT FINDINGS: AS and other forms of SpA are polygenic with more than 100 genes contributing to disease susceptibility. The role of genes in determining the outcome of the disease and response to treatment is less clear...
April 26, 2018: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/29681195/biologics-for-treating-axial-spondyloarthritis
#9
Alexis Jones, Coziana Ciurtin, Mediola Ismajli, Maria Leandro, Raj Sengupta, Pedro M Machado
Spondyloarthritis (SpA) encompasses a heterogeneous group of diseases sharing genetic, immunological, clinical and imaging features. Axial spondyloarthritis (axSpA) refers to a subgroup characterised predominately by inflammation of the axial skeleton with subsequent symptoms of chronic (often inflammatory) back pain and sacroiliitis. There is a strong association with the major histocompatibility complex (MHC) class I allele human leukocyte antigen (HLA) B27. In the last decade, there has been significant progress in earlier detection of the disease and the molecular mechanisms involved in its pathogenesis...
April 21, 2018: Expert Opinion on Biological Therapy
https://www.readbyqxmd.com/read/29675891/association-of-the-hla-b27-antigen-and-the-ctla4-gene-ct60-rs3087243-polymorphism-with-ankylosing-spondylitis-in-algerian-population-a-case-control-study
#10
C A Dahmani, A Benzaoui, H Amroun, F Mecabih, F Z Sediki, F Zemani-Fodil, M Fodil, W Boughrara, B Mecheti, N Attal, N Mehtar, E Petit-Teixeira, A Boudjema
Ankylosing spondylitis (AS) is a complex inflammatory disease that represents a major health problem both in Algeria and worldwide. Several lines of evidence support that genetic risk factors play a role in AS etiology and the CTLA4 gene has attracted a considerable attention. In this study, we were interested in evaluating the HLA-B27 frequency and in exploring the CTLA4 gene in a sample of the North African population. The dataset of the current study is composed of 81 patients with AS and 123 healthy controls...
April 19, 2018: International Journal of Immunogenetics
https://www.readbyqxmd.com/read/29666980/epidemiology-of-uveitis-in-a-us-population-based-study
#11
Marta Mora González, Marissé Masís Solano, Travis C Porco, Catherine E Oldenburg, Nisha R Acharya, Shan C Lin, Matilda F Chan
BACKGROUND: The purpose of this study is to assess the relationship between self-reported uveitis and purported demographic and clinical risk factors, using an American adult population extracted from the National Health and Nutrition Examination Survey (NHANES) for the years 2009 and 2010. This is a cross-sectional, population-based study using a sample of 5106 subjects between 20 and 69 years old. The main outcome for our study was the self-report of a diagnosis of uveitis. The demographic analysis included age, gender, and ethnicity...
April 17, 2018: Journal of Ophthalmic Inflammation and Infection
https://www.readbyqxmd.com/read/29657148/the-prevalence-of-renal-impairment-in-patients-with-spondyloarthritis-results-from-the-international-asas-comospa-study
#12
Marion Couderc, Bruno Pereira, Anna Molto, Aurélien Tiple, Martin Soubrier, Maxime Dougados
OBJECTIVE: To assess the prevalence and association of renal dysfunction in patients with spondyloarthritis (SpA). METHODS: The ASAS-COMOSPA (Assessment of Spondyloarthritis international Society-COMOrbidities in SPondyloArthritis) was an international study (22 participating countries from 4 continents) investigating comorbidities in SpA. Renal function was assessed based on estimated glomerular filtration rate (eGFR) calculated using the Modification of Diet in Renal Disease equation...
April 15, 2018: Journal of Rheumatology
https://www.readbyqxmd.com/read/29652210/idiopathic-central-nervous-system-inflammatory-disease-in-the-setting-of-hla-b27-uveitis
#13
Eric L Crowell, Margaret L Pfeiffer, Ankur A Kamdar, Mary K Koenig, Susan E Wittenberg, Emilio P Supsupin, Ore-Ofe O Adesina
PURPOSE: The purpose of the article is to describe a novel case of idiopathic central nervous system inflammatory disease with bilateral human leukocyte antigen (HLA)-B27-positive anterior uveitis. METHODS/RESULTS: A 15-year-old African American boy with bilateral HLA-B27-positive anterior uveitis controlled with topical and oral steroids for 8 months acutely developed headaches, left eyelid ptosis, and binocular diplopia. Imaging showed lesions in the right midbrain, superior colliculus, cerebellar peduncles, and cerebellar vermis and leptomeningeal enhancement along the vermian foliae...
April 13, 2018: Ocular Immunology and Inflammation
https://www.readbyqxmd.com/read/29620146/a-study-of-the-key-genes-and-inflammatory-signaling-pathways-involved-in-hla-b27-associated-acute-anterior-uveitis-families
#14
Shuo Yu, Cui Mao, Jinyi Yu, Xin Qi, Jing Wang, Hong Lu
The present study was conducted to investigate the key genes and the inflammatory signaling pathways involved in HLA-B27-associated acute anterior uveitis (AAU) families. Four families with HLA-B27‑positive aau patients and their HLA-B27-positive blood relatives were included in the study. peripheral blood monocytes were isolated from the subjects and stimulated by lipopolysaccharides (LPS). Gene expression microarrays were used to identify the differentially expressed genes (DEGs), and the DEGs were analyzed by a range of bioinformatics-based techniques, including Gene Ontology (GO), Pathway analysis, Signal-Net analysis and Gene Relation Network (Gene-Rel-Net)...
March 29, 2018: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/29610697/a-case-of-spondyloarthritis-in-patient-affected-by-unicentric-castleman-s-disease-effectively-managed-with-surgery-resection-and-tocilizumab-treatment
#15
M Filippini, S Cartella, O Bonzanini, E Morello, A Tincani
A 38-year-old woman was referred to our hospital for rheumatologic manifestations (migrant arthritis and tenosynovitis), without psoriasis or family history of psoriasis, gastroenteric manifestations, or recent genitourinary infections. The instrumental and laboratory tests have suggested a diagnosis of undifferentiated seronegative HLA-B27-positive spondyloarthritis with predominantly peripheral involvement. The symptoms were very severe and resistant to anti-inflammatory drugs and steroids. She had a history of hyaline-vascular unicentric Castleman's disease (HBV, HIV, and HHV-8 negative) treated with surgery resection...
2018: Case Reports in Rheumatology
https://www.readbyqxmd.com/read/29595276/-axial-spondyloarthritis
#16
Leona Procházková, Vladimír Červeňák, Miroslav Souček
Axial spondyloarthritis (axSpA) is a common name for the non-radiographic form of the disease and radiographic axial spondyloarthritis, known as ankylosing spondylitis (AS). The disease is typically manifested at a young age, characterized by affection of axial skeleton, and in the most severe form can lead to complete ankylosis of the spine. Etiology of diseases have not yet been clarified, however, the genetic background, especially the binding to HLA-B27 antigen, is obvious. Clinical manifestations are dominated by chronic pain in the lower pain or buttocks that occurred in young age, in a large proportion of patients having the character of so-called inflammatory pain...
2018: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/29579081/genetics-in-tnf-tnfr-pathway-a-complex-network-causing-spondyloarthritis-and-conditioning-response-to-anti-tnf%C3%AE-therapy
#17
Ada Aita, Daniela Basso, Roberta Ramonda, Stefania Moz, Mariagrazia Lorenzin, Filippo Navaglia, Carlo-Federico Zambon, Andrea Padoan, Mario Plebani, Leonardo Punzi
OBJECTIVES: We investigated whether polymorphisms (SNPs) in the promoter region of TNFA, or in the autoinflammatory TNFRSF1A and MEFV genes, concur with HLA-B27 in enhancing the risk of Spondyloarthritis (SpA) and/or in predicting the response to anti-TNFα treatment. METHODS: 373 controls and 137 SpA (82 with Psoriatic Arthritis-PsA and 55 with Ankylosing Spondylitis- AS; 98/137 under TNFα inhibitor therapy) from the Veneto Region (Italy) were studied. TNFA polymorphisms (-1031T>C;-857C>T;-376G>A;-308G>A;-238G>A) and HLA-B27 were assayed by RT-PCR...
2018: PloS One
https://www.readbyqxmd.com/read/29556237/regulation-of-cytokine-production-by-the-unfolded-protein-response-implications-for-infection-and-autoimmunity
#18
REVIEW
Judith A Smith
Protein folding in the endoplasmic reticulum (ER) is an essential cell function. To safeguard this process in the face of environmental threats and internal stressors, cells mount an evolutionarily conserved response known as the unfolded protein response (UPR). Invading pathogens induce cellular stress that impacts protein folding, thus the UPR is well situated to sense danger and contribute to immune responses. Cytokines (inflammatory cytokines and interferons) critically mediate host defense against pathogens, but when aberrantly produced, may also drive pathologic inflammation...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29545448/in-early-axial-spondyloarthritis-increasing-disease-activity-is-associated-with-worsening-of-health-related-quality-of-life-over-time
#19
Miranda van Lunteren, Zineb Ez-Zaitouni, Anoek de Koning, Hanne Dagfinrud, Roberta Ramonda, Lennart Jacobsson, Robert Landewé, Désirée van der Heijde, Floris A van Gaalen
OBJECTIVE: In early axial spondyloarthritis (axSpA), data are lacking about the relationship between disease activity and health-related quality of life (HRQOL). We assessed and quantified the association between change in Ankylosing Spondylitis Disease Activity Score (ASDAS) and HRQOL over time in early axSpA. METHODS: Baseline and 1-year data of patients with axSpA fulfilling the Assessment of Spondyloarthritis international Society (ASAS) classification criteria from the SPondyloArthritis Caught Early (SPACE) cohort were analyzed...
March 15, 2018: Journal of Rheumatology
https://www.readbyqxmd.com/read/29540200/hypogalactosylation-of-immunoglobulin-g-in-rheumatoid-arthritis-relationship-to-hla-drb1-shared-epitope-anticitrullinated-protein-antibodies-rheumatoid-factor-and-correlation-with-inflammatory-activity
#20
Christian Schwedler, Thomas Häupl, Ulrich Kalus, Véronique Blanchard, Gerd-Rüdiger Burmester, Denis Poddubnyy, Berthold Hoppe
BACKGROUND: Galactosylation of immunoglobulin G (IgG) is reduced in rheumatoid arthritis (RA) and assumed to correlate with inflammation and altered humoral immunity. IgG hypogalactosylation also increases with age. To investigate dependencies in more detail, we compared IgG hypogalactosylation between patients with RA, patients with axial spondyloarthritis (axSpA), and healthy control subjects (HC), and we studied it in RA on the background of HLA-DRB1 shared epitope (SE), anticitrullinated protein antibodies (ACPA), and/or rheumatoid factor (RF) status...
March 14, 2018: Arthritis Research & Therapy
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