scholarly journals Juvenile Spondyloarthritis: What More Do We Know About HLA-B27, Enthesitis, and New Bone Formation?

2021 ◽  
Vol 8 ◽  
Author(s):  
Shi Huan Tay ◽  
Joo Guan Yeo ◽  
Jing Yao Leong ◽  
Salvatore Albani ◽  
Thaschawee Arkachaisri
Keyword(s):  
Bone Formation ◽  
Treatment Options ◽  
Strong Association ◽  
Human Leukocyte ◽  
Childhood And Adolescence ◽  
Hla B27 ◽  
New Bone Formation ◽  
Leukocyte Antigen ◽  
Immune Mediated ◽  
Juvenile Spondyloarthritis

Juvenile spondyloarthritis (JSpA) refers to a diverse spectrum of immune-mediated inflammatory arthritides whose onset occurs in late childhood and adolescence. Like its adult counterpart, JSpA is typified by a strong association with human leukocyte antigen-B27 (HLA-B27) and potential axial involvement, while lacking rheumatoid factor (RF) and distinguishing autoantibodies. A characteristic manifestation of JSpA is enthesitis (inflammation of insertion sites of tendons, ligaments, joint capsules or fascia to bone), which is commonly accompanied by bone resorption and new bone formation at affected sites. In this Review, advances in the role of HLA-B27, enthesitis and its associated osteoproliferation in JSpA pathophysiology and treatment options will be discussed. A deeper appreciation of how these elements contribute to the JSpA disease mechanism will better inform diagnosis, prognosis and therapy, which in turn translates to an improved quality of life for patients.

scholarly journals Focus on the spondyloarthritides. Can earlier diagnosis change the course of the disease?

2013 ◽  
pp. 277-283
Author(s):  
Domenico Galasso ◽  
Giovanni Forte ◽  
Norma Marigliano
Keyword(s):  
Strong Association ◽  
Human Leukocyte ◽  
Unknown Origin ◽  
Lower Limbs ◽  
Inflammatory Rheumatic Diseases ◽  
Genetic Characteristics ◽  
Leukocyte Antigen ◽  
Musculoskeletal Manifestations ◽  
Chronic Inflammatory Rheumatic Diseases ◽  
Juvenile Spondyloarthritis

The spondyloarthritides (or spondyloarthropathies) (SPAs) are chronic, inflammatory, rheumatic diseases of unknown origin, which share certain clinical, epidemiological, and genetic characteristics. They include ankylosing spondylitis, reactive arthritis (also known as the Reiter Syndrome), psoriatic arthritis, enteropathic spondyloarthropathy (ulcerative colitis, Crohn’s disease), undifferentiated spondyloarthritis, juvenile spondyloarthritis, and formes frustes such as acute anterior uveitis, spondyloarthritic carditis, and balanitis circinata. In the past, the SPAs were considered variants of rheumatoid arthritis, but it is now clear that they differ from the latter disease in terms of the pattern of articular and extra-articular involvement, their lack of association with seropositivity for rheumatoid factor, and their strong association with sacro-iliac joint bacino= pelvis sacro-iliac joint sacro-iliac joint sacro-iliac joint sacro-iliac joint sacro-iliac joint the class I human leukocyte antigen B27. sacro-iliac joint bacino= pelvis sacro-iliac joint sacro-iliac joint sacro-iliac joint sacro-iliac joint sacro-iliac joint Their general characteristics are axial involvement; enthesitis; peripheral arthritis involving the lower limbs, which is usually asymmetric; dactylitis; extra-articular manifestations involving the skin, eyes, bowel, and genitals. The musculoskeletal manifestations of the SPAs are due to inflammation at the level of the entheses. It is important to distinguish between the numerous clinical SPA variants based on analysis of symptoms, laboratory tests, and instrumental studies. Thanks to a greater understanding of the pathogenesis of the SPAs and the widespread availability of highly sensitive imaging modalities for their diagnosis, it is now possible to identify these diseases early and modify their course with effective therapy. This approach offers benefits to patients in terms of reduced morbidity and mortality and improved quality of life.

Epidemiology of axial spondyloarthritis

2016 ◽  
Author(s):  
Lianne Gensler ◽  
Michael Weisman ◽  
Liron Caplan
Keyword(s):  
External Validity ◽  
Inflammatory Arthritis ◽  
Axial Spondyloarthritis ◽  
Strong Association ◽  
Human Leukocyte ◽  
Epidemiological Studies ◽  
Hla B27 ◽  
Sacroiliac Joints ◽  
Leukocyte Antigen ◽  
Inflammatory Bowel

Axial spondyloarthritis (axSpA) is an inflammatory arthritis of the sacroiliac joints and spine. The prototype is ankylosing spondylitis, the radiographic form of the disease; however, more recently, an earlier or less-differentiated presentation has been described termed non-radiographic axial spondyloarthritis (nr-axSpA). Extra-articular manifestations commonly include anterior uveitis, inflammatory bowel disease, and psoriasis. There is a strong association with the human leukocyte antigen B27 (HLA-B27) allele, and the prevalence of the disease tends to follow the frequency of the allele. Epidemiological studies in axSpA are relevant in the population studied and therefore have limited external validity. This chapter describes the epidemiology of axSpA.

scholarly journals Narcolepsy as an Immune-Mediated Disease

2014 ◽  
Vol 2014 ◽  
pp. 1-6 ◽  
Author(s):  
Alberto K. De la Herrán-Arita ◽  
Fabio García-García
Keyword(s):  
Influenza A ◽  
Molecular Mimicry ◽  
Strong Association ◽  
Human Leukocyte ◽  
Cell Receptor ◽  
H1n1 Vaccine ◽  
Leukocyte Antigen ◽  
Immune Mediated ◽  
Influenza A H1n1 ◽  
2009 H1n1

Narcolepsy is a neurological disorder characterized by excessive daytime sleepiness, cataplexy, hypnagonic hallucinations, sleep paralysis, and disturbed nocturnal sleep patterns. This disease is secondary to the specific loss of hypothalamic hypocretin (orexin)-producing neurons in the lateral hypothalamus. An autoimmune basis for the disease has long been suspected based on its strong association with the genetic marker DQB1*06:02, and current studies greatly support this hypothesis. Narcolepsy with hypocretin deficiency is associated with human leukocyte antigen (HLA) and T cell receptor (TCR) polymorphisms, suggesting that an autoimmune process targets a peptide unique to hypocretin-producing neurons via specific HLA-peptide-TCR interactions. This concept has gained a lot of notoriety after the increase of childhood narcolepsy in 2010 following the 2009 H1N1 pandemic (pH1N1) in China and vaccination with Pandemrix, an adjuvanted H1N1 vaccine that was used in Scandinavia. The surge of narcolepsy cases subsequent to influenza A H1N1 infection and H1N1 vaccination suggests that processes such as molecular mimicry or bystander activation might be crucial for disease development.

scholarly journals Spectrum of cutaneous adverse reactions to aromatic antiepileptic drugs and human leukocyte antigen genotypes in Thai patients and meta-analysis

2021 ◽  
Author(s):  
Chonlaphat Sukasem ◽  
Suthida Sririttha ◽  
Chonlawat Chaichan ◽  
Thapanat Nakkrut ◽  
Patompong Satapornpong ◽  
...  
Keyword(s):  
Human Leukocyte Antigen ◽  
Antiepileptic Drugs ◽  
Meta Analysis ◽  
Strong Association ◽  
Human Leukocyte ◽  
Stevens Johnson Syndrome ◽  
Thai Population ◽  
Leukocyte Antigen ◽  
Maculopapular Eruption ◽  
Sequence Specific Oligonucleotide Probe

AbstractAromatic antiepileptic drugs (AEDs)-induced cutaneous adverse drug reactions (cADRs) add up to the limited use of the AEDs in the treatment and prevention of seizures. Human leukocyte antigen-B (HLA-B) alleles have been linked to AEDs-induced cADRs. We investigated the association between cADRs (including Stevens–Johnson syndrome; SJS/toxic epidermal necrolysis; TEN, drug reaction with eosinophilia and systemic symptoms; DRESS, and Maculopapular eruption; MPE) caused by AEDs (phenytoin, carbamazepine, lamotrigine, phenobarbital and oxcarbazepine) and HLA-B alleles in Thai population. Through the case-control study, 166 patients with AEDs-induced cADRs, 426 AEDs-tolerant patients (AEDs-tolerant controls), and 470 healthy subjects (Thai population) were collected. The HLA genotypes were detected using the polymerase chain reaction-sequence specific oligonucleotide probe (PCR-SSOP) method. We also performed a meta-analysis with these data and other populations. The carrier rate of HLA-B*15:02 was significantly different between AEDs-induced cADRs group and AEDs-tolerant group (Odds ratio; OR 4.28, 95% Confidence interval; CI 2.64–6.95, p < 0.001), AEDs-induced cADRs group and Thai population (OR 2.15, 95%CI 1.41–3.29, p < 0.001). In meta-analysis showed the strong association HLA-B*15:02 with AEDs-induced cADRs (OR 4.77, 95%CI 1.79–12.73, p < 0.001). Furthermore, HLA-B*15:02 was associated with SJS/TEN induced by AEDs (OR 10.28, 95%CI 6.50–16.28, p < 0.001) Phenytoin (OR 4.12, 95%CI 1.77–9.59, p = 0.001) and carbamazepine (OR 137.69, 95%CI 50.97–371.98, p < 0.001). This study demonstrated that genetic association for AEDs-induced cADRs was phenotype-specific. A strong association between HLA-B*15:02 and AEDs-induced SJS/TEN was demonstrated with an OR of 10.79 (95%CI 5.50–21.16, p < 0.001) when compared with AEDs-tolerant group. On the other hand, the carrier rates of HLA-B*08:01, HLA-B*13:01, and HLA-B*56:02 were significantly higher in the DRESS group compared with the AEDs-tolerant group (p = 0.029, 0.007, and 0.017, respectively). The HLA-B*15:02 allele may represent a risk factor for AEDs-induced cADRs.

scholarly journals Spondyloarthritis and the Human Leukocyte Antigen (HLA)-B*27 Connection

2021 ◽  
Vol 12 ◽  
Author(s):  
Chengappa G. Kavadichanda ◽  
Jie Geng ◽  
Sree Nethra Bulusu ◽  
Vir Singh Negi ◽  
Malini Raghavan
Keyword(s):  
Endoplasmic Reticulum ◽  
Human Leukocyte Antigen ◽  
Human Leukocyte ◽  
Hla Class I ◽  
Clinical Aspects ◽  
Susceptibility Loci ◽  
New Bone Formation ◽  
High Association ◽  
Leukocyte Antigen ◽  
Heavy Chains

Heritability of Spondyloarthritis (SpA) is highlighted by several familial studies and a high association with the presence of human leukocyte antigen (HLA)-B*27. Though it has been over four decades since the association of HLA-B*27 with SpA was first determined, the pathophysiological roles played by specific HLA-B*27 allotypes are not fully understood. Popular hypotheses include the presentation of arthritogenic peptides, triggering of endoplasmic reticulum (ER) stress by misfolded HLA-B*27, and the interaction between free heavy chains or heavy chain homodimers of HLA-B*27 and immune receptors to drive IL-17 responses. Several non-HLA susceptibility loci have also been identified for SpA, including endoplasmic reticulum aminopeptidases (ERAP) and those related to the IL-23/IL-17 axes. In this review, we summarize clinical aspects of SpA including known characteristics of gut inflammation, enthesitis and new bone formation and the existing models for understanding the association of HLA-B*27 with disease pathogenesis. We also examine newer insights into the biology of HLA class I (HLA-I) proteins and their implications for expanding our understanding of HLA-B*27 contributions to SpA pathogenesis.

scholarly journals HLA-B27 antigen frequency among suspected Spondyloarthropathy patients attaining a tertiary level hospital of Bangladesh

2015 ◽  
Vol 40 (3) ◽  
pp. 102-106 ◽  
Author(s):  
A Nessa ◽  
S Tabassum ◽  
S Sultana
Keyword(s):  
Healthy Subjects ◽  
Age Groups ◽  
Human Leukocyte ◽  
Disease Association ◽  
Control Group ◽  
Hla B27 ◽  
Leukocyte Antigen ◽  
Male Preponderance ◽  
Antigen Frequency ◽  
Medical University

Human leukocyte antigen B27 (HLA-B27), a class I molecules of the major histocompatibility complex has a strong disease association with different types of spondarthropathies (SpA). The strength of this disease association varies markedly among racial and ethnic populations. The present study aimed to identify the HLA-B27 antigen frequencies among suspected SpA patients as well as healthy Bangladeshi individuals. The frequency of HLA-B27 was determined in 1500 patients and 1000 healthy subjects attending the Bangabandhu Sheikh Mujib Medical University (BSMMU). HLAB 27 typing was done by microlymphocytotoxicity test using commercial kit. A total of 738 (49.2%) suspected SpA patients and 107 (10.7%) healthy subjects tested positive for HLA-B27 antigen with higher frequency among younger age groups (54.9%, 52.4% and 56.2% in 0-14 years, 15-24 years and 25–34 years of age respectively). The male female positivity was almost same (11.4% and 9.6%) among control group, but in patient group it was 53.0% and 41.2% respectively. The findings of this hospital based study showed a high frequency of HLA-B27 among suspected SpA patients with male preponderance which is comparable with neighboring countries.Bangladesh Med Res Counc Bull 2014; 40 (3): 102-106

A strong association of human leukocyte antigen-associated Pol and Gag mutations with clinical parameters in HIV-1 subtype A/E infection

AIDS ◽  
2016 ◽  
Vol 30 (5) ◽  
pp. 681-689 ◽  
Author(s):  
Giang Van Tran ◽  
Takayuki Chikata ◽  
Jonathan M. Carlson ◽  
Hayato Murakoshi ◽  
Dung Hoai Nguyen ◽  
...  
Keyword(s):  
Human Leukocyte Antigen ◽  
Strong Association ◽  
Human Leukocyte ◽  
Clinical Parameters ◽  
Leukocyte Antigen ◽  
Subtype A ◽  
Hiv 1

scholarly journals The pathogenesis of ankylosing spondylitis

2008 ◽  
Vol 24 (1) ◽  
pp. E3 ◽  
Author(s):  
Mohammed F. Shamji ◽  
Mohammed Bafaquh ◽  
Eve Tsai
Keyword(s):  
Ankylosing Spondylitis ◽  
Molecular Mimicry ◽  
Human Leukocyte ◽  
Axial Skeleton ◽  
Chronic Inflammatory Disease ◽  
The Body ◽  
Hla B27 ◽  
Leukocyte Antigen ◽  
Molecular Events ◽  
Microbial Tolerance

✓ Ankylosing spondylitis (AS) is a chronic inflammatory disease that can cause significant functional complications by affecting the sacroiliac joints and axial skeleton. Despite a longstanding knowledge about the familial associations of this disease, particularly among patients positive for human leukocyte antigen (HLA)–B27, the fundamental pathogenetic mechanism by which this disease arises in genetically susceptible individuals remains ill defined. Furthermore, the molecular predilection for characteristic articular site involvement remains under ongoing investigation. Current theories about the HLA-B27 association range from the presentation of novel arthritogenic peptides, to abnormal autoimmune stimulation, to anomalous microbial tolerance. The immune effectors of this damage include CD4+, CD8+, and natural killer cells, with marked heterogeneity at different sites. Biomechanical stresses may trigger this disease by exposing the body to previously immune-sequestered autoantigens or by providing a route for bacterial seeding. Environmental triggers such as infection have not been definitively established but may represent a primary pathogenic step in a molecular-mimicry process. In this article, the authors review the current literature on the origin and pathophysiology of AS, focusing on genetic and molecular associations, consequent pathomechanisms, and associated triggers. An improved understanding of the sequence of molecular events that predispose and initiate the onset of this disease will allow for more specific and targeted therapy and better avoidance of the significant side effects of systemic immunomodulation.

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