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The Lancet. Neurology Sep 2021Myelin-oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is a recently identified autoimmune disorder that presents in both adults and children as CNS... (Review)
Review
Myelin-oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is a recently identified autoimmune disorder that presents in both adults and children as CNS demyelination. Although there are clinical phenotypic overlaps between MOGAD, multiple sclerosis, and aquaporin-4 antibody-associated neuromyelitis optica spectrum disorder (NMOSD) cumulative biological, clinical, and pathological evidence discriminates between these conditions. Patients should not be diagnosed with multiple sclerosis or NMOSD if they have anti-MOG antibodies in their serum. However, many questions related to the clinical characterisation of MOGAD and pathogenetic role of MOG antibodies are still unanswered. Furthermore, therapy is mainly based on standard protocols for aquaporin-4 antibody-associated NMOSD and multiple sclerosis, and more evidence is needed regarding how and when to treat patients with MOGAD.
Topics: Adolescent; Adult; Autoantibodies; Biomarkers; Child; Demyelinating Autoimmune Diseases, CNS; Humans; Immunologic Factors; Middle Aged; Myelin-Oligodendrocyte Glycoprotein; Young Adult
PubMed: 34418402
DOI: 10.1016/S1474-4422(21)00218-0 -
Scandinavian Journal of Immunology Feb 2021Inflammation can be created by several different causes, including a blood clot, an immune system disorder, a cancer, an infection, a chemical exposure, a physical... (Review)
Review
Inflammation can be created by several different causes, including a blood clot, an immune system disorder, a cancer, an infection, a chemical exposure, a physical injury, or a neurological condition, such as Alzheimer's or depression. In particular, many infections by viral, bacterial, fungal and protozoan pathogens can cause inflammation. Inflammations can have far-reaching medical consequences, because chronic or frequent inflammation can assist cancers and initiate autoimmune diseases. Determining the cause of an inflammation can be essential for the medical treatment of an individual, and a classification system can be a useful tool to help a diagnosis, confirm a diagnosis and to determine the most appropriate treatment. However, at present there is no classification system for the different causes of inflammation. This paper describes a classification system that uses seven distinct cytokine parameters to enable the determination of the cause of an inflammation. This classification system is expandable, and it can help determine whether an inflammation is caused by an ischaemia, an immune system disorder, a cancer, an infection, a chemical, a physical injury, or a neurological condition. In some cases, this classification system can help enable a quick primary or secondary determination of an urgent medical emergency when other medical diagnostic resources are unavailable.
Topics: Autoimmune Diseases; Cytokines; Humans; Immune System; Inflammation
PubMed: 32892387
DOI: 10.1111/sji.12970 -
Multiple Sclerosis (Houndmills,... Oct 2019Myelin oligodendrocyte glycoprotein (MOG) antibody disease is a rare autoimmune disorder with antibodies against the MOG predominantly involving the optic nerve and... (Review)
Review
Myelin oligodendrocyte glycoprotein (MOG) antibody disease is a rare autoimmune disorder with antibodies against the MOG predominantly involving the optic nerve and spinal cord leading to vision loss and paralysis. When MOG antibody disease involves the brain, the phenotype is similar to acute disseminated encephalomyelitis (ADEM). In this review, we discuss MOG-positive cases presenting with encephalitis, encephalopathy, or ADEM-like presentation based on recently published series.
Topics: Adrenal Cortex Hormones; Autoantibodies; Demyelinating Autoimmune Diseases, CNS; Disease Progression; Encephalitis; Encephalomyelitis; Humans; Immunoglobulins, Intravenous; Immunologic Factors; Immunosuppressive Agents; Magnetic Resonance Imaging; Myelin-Oligodendrocyte Glycoprotein; Optic Neuritis; Plasma Exchange
PubMed: 30907249
DOI: 10.1177/1352458519837705 -
Frontiers in Immunology 2023Myasthenia gravis (MG) is a neuromuscular autoimmune disorder characterized by chronic but intermittent fatigue of the eye- and general body muscles. Muscle weakness is... (Review)
Review
Myasthenia gravis (MG) is a neuromuscular autoimmune disorder characterized by chronic but intermittent fatigue of the eye- and general body muscles. Muscle weakness is caused primarily by the binding of an autoantibody to the acetylcholine receptors, resulting in blockage of normal neuromuscular signal transmission. Studies revealed substantial contributions of different proinflammatory or inflammatory mediators in the pathogenesis of MG. Despite these findings, compared to therapeutic approaches that target autoantibody and complements, only a few therapeutics against key inflammatory molecules have been designed or tested in MG clinical trials. Recent research focuses largely on identifying unknown molecular pathways and novel targets involved in inflammation associated with MG. A well-designed combination or adjunct treatment utilizing one or more selective and validated promising biomarkers of inflammation as a component of targeted therapy may yield better treatment outcomes. This review briefly discusses some preclinical and clinical findings of inflammation associated with MG and current therapy approaches and suggest the potential of targeting important inflammatory marker(s) along with current monoclonal antibody or antibody fragment based targeted therapies directed to a variety of cell surface receptors.
Topics: Humans; Myasthenia Gravis; Receptors, Cholinergic; Autoantibodies; Muscles; Inflammation
PubMed: 36793733
DOI: 10.3389/fimmu.2023.1110499 -
Current Pediatric Reviews 2021Alopecia areata (AA) is a non-scarring hair loss disorder of autoimmune etiology. (Review)
Review
BACKGROUND
Alopecia areata (AA) is a non-scarring hair loss disorder of autoimmune etiology.
OBJECTIVE
To familiarize physicians with the clinical presentation, diagnosis, evaluation, and management of pediatric alopecia areata.
METHODS
The search term "Alopecia areata" was entered into a Pubmed search. A narrow scope was applied to the categories of "epidemiology", "clinical diagnosis", "investigations", "comorbidities", and "treatment". Meta-analyses, randomized controlled trials, clinical trials, observational studies, and reviews were included. Only papers published in the English language were included. A descriptive, narrative synthesis was provided of the retrieved articles.
RESULTS
AA is an autoimmune disease of unknown etiology. It is the third most common dermatologic presentation in children with a lifetime risk of 1-2%. Diagnosing AA can be made on the basis of the history and clinical findings. Patients will often present with patchy, non-scarring hair loss, generally affecting the scalp. History may reveal a personal or family medical history of autoimmune or atopic disease or a recent stressful event. Tricoscopic examination will classically show "exclamation point hairs" and "yellow dots". Nonspecific nail changes may be present. Other clinical variants include alopecia totalis, alopecia universalis, ophiasis, sisaipho, and Canitis subita. There are multiple treatment options for AA, including conservative treatment, and topical, oral, and injectable medications.
CONCLUSION
AA is an autoimmune disease with a heterogeneous presentation and unpredictable clinical course. Although there is no cure for AA, there are many current treatment options available to help manage this disfiguring disease.
Topics: Alopecia Areata; Autoimmune Diseases; Child; Combined Modality Therapy; Humans
PubMed: 32351186
DOI: 10.2174/1573396316666200430084825 -
Nature Reviews. Rheumatology Jul 2021Ankylosing spondylitis (AS) is a chronic inflammatory disorder of unknown aetiology. Unlike other systemic autoimmune diseases, in AS, the innate immune system has a... (Review)
Review
Ankylosing spondylitis (AS) is a chronic inflammatory disorder of unknown aetiology. Unlike other systemic autoimmune diseases, in AS, the innate immune system has a dominant role characterized by aberrant activity of innate and innate-like immune cells, including γδ T cells, group 3 innate lymphoid cells, neutrophils, mucosal-associated invariant T cells and mast cells, at sites predisposed to the disease. The intestine is involved in disease manifestations, as it is at the forefront of the interaction between the mucosal-associated immune cells and the intestinal microbiota. Similarly, biomechanical factors, such as entheseal micro-trauma, might also be involved in the pathogenesis of the articular manifestation of AS, and sentinel immune cells located in the entheses could provide links between local damage, genetic predisposition and the development of chronic inflammation. Although these elements might support the autoinflammatory nature of AS, studies demonstrating the presence of autoantibodies (such as anti-CD74, anti-sclerostin and anti-noggin antibodies) and evidence of activation and clonal expansion of T cell populations support an autoimmune component to the disease. This Review presents the evidence for autoinflammation and the evidence for autoimmunity in AS and, by discussing the pathophysiological factors associated with each, aims to reconcile the two hypotheses.
Topics: Animals; Autoimmune Diseases; Hereditary Autoinflammatory Diseases; Humans; Spondylitis, Ankylosing
PubMed: 34113018
DOI: 10.1038/s41584-021-00625-y -
Survey of Ophthalmology 2019Typical optic neuritis is an idiopathic demyelinating condition that is often associated with multiple sclerosis. This has been well characterized and has an excellent... (Review)
Review
Typical optic neuritis is an idiopathic demyelinating condition that is often associated with multiple sclerosis. This has been well characterized and has an excellent prognosis. Atypical optic neuritis can result from an inflammatory, infectious, or autoimmune disorder. Differentiating the two types of optic neuritis is paramount and may be challenging early on in the clinical course. This review describes the recent literature describing the pathophysiology, clinical presentation, neuroimaging, and management of these disorders.
Topics: Adrenal Cortex Hormones; Autoimmune Diseases; Diagnosis, Differential; Humans; Multiple Sclerosis; Optic Nerve; Optic Neuritis; Prognosis; Visual Acuity
PubMed: 31229520
DOI: 10.1016/j.survophthal.2019.06.001 -
Nature Reviews. Rheumatology Mar 2024Sjögren syndrome is a phenotypically varied autoimmune disorder that can occur alone in primary Sjögren syndrome or in association with other connective tissue... (Review)
Review
Sjögren syndrome is a phenotypically varied autoimmune disorder that can occur alone in primary Sjögren syndrome or in association with other connective tissue diseases (CTDs), including rheumatoid arthritis, systemic lupus erythematosus (SLE) and systemic sclerosis (SSc). The estimation of the prevalence and incidence of Sjögren syndrome varies depending on diagnostic criteria and study design, making it difficult to estimate geographical and temporal trends. Nonetheless, disease phenotype is influenced by geographical origin, which is a risk factor for systemic activity. Whether mortality in primary Sjögren syndrome is increased compared with that of the general population is not yet known, but extra-glandular manifestations, in particular lymphomas, are clear risk factors for mortality. In CTDs associated with Sjögren syndrome, lymphoma risk seems higher than that of patients with CTD alone, and there is potentially lower disease activity in SLE with Sjögren syndrome and in SSc with Sjögren syndrome than in SLE or SSc alone.
Topics: Humans; Sjogren's Syndrome; Connective Tissue Diseases; Lupus Erythematosus, Systemic; Arthritis, Rheumatoid; Autoimmune Diseases; Scleroderma, Systemic
PubMed: 38110617
DOI: 10.1038/s41584-023-01057-6 -
Human Reproduction Update Jul 2019Endometriosis is a chronic gynaecological disorder that affects 2-10% of women of reproductive age. The aetiology of endometriosis is largely under-explored, yet... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Endometriosis is a chronic gynaecological disorder that affects 2-10% of women of reproductive age. The aetiology of endometriosis is largely under-explored, yet abnormalities in the immune system have been suggested to explain the origin of ectopic endometrial tissues, and an association between endometriosis and autoimmune diseases has been proposed. Evaluation of current evidence investigating the association between endometriosis and autoimmune diseases from population-based studies will facilitate our understanding of the causes and consequences of endometriosis and provide a reference for better healthcare practices population-wide.
OBJECTIVE AND RATIONALE
The aim of this study was to systematically review the literature on population-based studies investigating an association between endometriosis and autoimmune diseases and to conduct a meta-analysis of combinable results to investigate the extent and robustness of evidence.
SEARCH METHODS
Four electronic databases were searched (MEDLINE, Embase, Web of Science, and CINAHL) from each database inception date until 7 April 2018. Search terms included a combination of database-specific controlled vocabulary terms and free-text terms relating to 'endometriosis' and 'autoimmune diseases'. Study inclusion criteria focused on peer-reviewed published articles that reported an association between endometriosis and autoimmune diseases, excluding case reports/series, review papers, meta-analyses, organizational guidelines, editorial letters, expert opinions, and conference abstracts. Quality assessment of included studies was performed based on GRADE criteria. Key information of eligible studies was abstracted into a standard form. Meta-analysis was performed for autoimmune diseases with combinable study results from at least three studies investigating an association with endometriosis. For cross-sectional studies and case-control studies, raw data from each study were documented to calculate a Mantel-Haenszel odds ratio with 95% CIs. For cohort studies, an inverse variance probability weighted model was used to pool study results to calculate a rate ratio (a hazard ratio or a standardized incidence rate) with 95% CIs.
OUTCOMES
A total of 26 published population-based cross-sectional, case-control, and cohort studies that investigated the association between endometriosis and autoimmune diseases met all eligible criteria and were included in the review. The studies quantified an association between endometriosis and several autoimmune diseases, including systemic lupus erythematosus (SLE), Sjögren's syndrome (SS), rheumatoid arthritis (RA), autoimmune thyroid disorder, coeliac disease (CLD), multiple sclerosis (MS), inflammatory bowel disease (IBD), and Addison's disease. However, the quality of the evidence was generally poor due to the high risk of bias in the majority of the chosen study designs and statistical analyses. Only 5 of the 26 studies could provide high-quality evidence, and among these, 4 supported a statistically significant association between endometriosis and at least 1 autoimmune disease: SLE, SS, RA, CLD, MS, or IBD.
WIDER IMPLICATIONS
The observed associations between endometriosis and autoimmune diseases suggest that clinicians need to be aware of the potential coexistence of endometriosis and autoimmune diseases when either is diagnosed. Scientists interested in research studies on endometriosis or autoimmune diseases should consider the likelihood of comorbidity when studying these two types of health conditions. Well-designed large prospective cohort studies with confounding control and mediation quantification, as well as genetic and biological studies, are needed to generate further insights into whether endometriosis is a risk factor for, or a consequence of, autoimmune diseases, and whether these two types of disorders share pathophysiological mechanisms even if they arise independently. Such insights may offer opportunities for the development of novel non-hormonal medications such as immuno-modulators or repurposing of existing immunomodulatory therapies for endometriosis.
Topics: Autoimmune Diseases; Case-Control Studies; Cohort Studies; Cross-Sectional Studies; Endometriosis; Female; Humans; Prospective Studies; Risk Factors; Sjogren's Syndrome
PubMed: 31260048
DOI: 10.1093/humupd/dmz014 -
Frontiers in Immunology 2019Historically, systemic self-inflammatory conditions were classified as either autoinflammatory and caused by the innate immune system or autoimmune and driven by... (Review)
Review
Historically, systemic self-inflammatory conditions were classified as either autoinflammatory and caused by the innate immune system or autoimmune and driven by adaptive immune responses. However, it became clear that reality is much more complex and that autoimmune/inflammatory conditions range along an "inflammatory spectrum" with primarily autoinflammatory vs. autoimmune conditions resembling extremes at either end. Epigenetic modifications influence gene expression and alter cellular functions without modifying the genomic sequence. Methylation of CpG DNA dinucleotides and/or their hydroxymethylation, post-translational modifications to amino termini of histone proteins, and non-coding RNA expression are main epigenetic events. The pathophysiology of autoimmune/inflammatory diseases has been closely linked with disease causing gene mutations (rare) or a combination of genetic susceptibility and epigenetic modifications arising from exposure to the environment (more common). Over recent years, progress has been made in understanding molecular mechanisms involved in systemic inflammation and the contribution of innate and adaptive immune responses. Epigenetic events have been identified as (i) central pathophysiological factors in addition to genetic disease predisposition and (ii) as co-factors determining clinical pictures and outcomes in individuals with monogenic disease. Thus, a complete understanding of epigenetic contributors to autoimmune/inflammatory disease will result in approaches to predict individual disease outcomes and the introduction of effective, target-directed, and tolerable therapies. Here, we summarize recent findings that signify the importance of epigenetic modifications in autoimmune/inflammatory disorders along the inflammatory spectrum choosing three examples: the autoinflammatory bone condition chronic nonbacterial osteomyelitis (CNO), the "mixed pattern" disorder psoriasis, and the autoimmune disease systemic lupus erythematosus (SLE).
Topics: Autoimmune Diseases; CpG Islands; DNA Methylation; Epigenesis, Genetic; Epigenomics; Humans; Inflammation; Protein Processing, Post-Translational
PubMed: 31333659
DOI: 10.3389/fimmu.2019.01525