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Current Cardiology Reports Nov 2020The role of autoantibodies in arrhythmogenesis has been the subject of research in recent times. This review focuses on the rapidly expanding field of... (Review)
Review
PURPOSE OF REVIEW
The role of autoantibodies in arrhythmogenesis has been the subject of research in recent times. This review focuses on the rapidly expanding field of autoantibody-mediated cardiac arrhythmias.
RECENT FINDINGS
Since the discovery of cardiac autoantibodies more than three decades ago, a great deal of effort has been devoted to understanding their contribution to arrhythmias. Different cardiac receptors and ion channels were identified as targets for autoantibodies, the binding of which either initiates a signaling cascade or serves as a biomarker of underlying remodeling process. Consequently, the wide spectrum of heart rhythm disturbances may emerge, ranging from atrial to ventricular arrhythmias as well as conduction diseases, irrespective of concomitant structural heart disease or manifest autoimmune disorder. The time has come to acknowledge autoimmune cardiac arrhythmias as a distinct disease entity. Establishing the autoantibody profile of patients will help to develop novel treatment approaches for patients.
Topics: Arrhythmias, Cardiac; Autoantibodies; Autoimmune Diseases; Heart Conduction System; Humans; Ion Channels
PubMed: 33241446
DOI: 10.1007/s11886-020-01430-x -
Arthritis Research & Therapy Feb 2024Sjögren's disease is a heterogeneous autoimmune disorder that may be associated with systemic manifestations such as pulmonary or articular involvement. Systemic... (Review)
Review
Sjögren's disease is a heterogeneous autoimmune disorder that may be associated with systemic manifestations such as pulmonary or articular involvement. Systemic complications have prognostic implications and need to be identified and managed in a timely manner. Treatment should be tailored to the type and severity of organ involvement, ideally based on multidisciplinary evaluation.
Topics: Humans; Sjogren's Syndrome; Autoimmune Diseases
PubMed: 38331820
DOI: 10.1186/s13075-024-03262-4 -
Best Practice & Research. Clinical... Dec 2023Autoimmune liver diseases (AILDs) are complex diseases with unknown causes and immune-mediated pathophysiology. In primary biliary cholangitis (PBC) and autoimmune... (Review)
Review
Autoimmune liver diseases (AILDs) are complex diseases with unknown causes and immune-mediated pathophysiology. In primary biliary cholangitis (PBC) and autoimmune hepatitis (AIH) disease modifying drugs are available which improve patient quality and quantity of life. In primary sclerosing cholangitis (PSC) no medical therapy is available and the only accepted treatment is liver transplantation (LT). PBC, PSC and AIH possess features that describe the archetype of patients within each disorder. On the other hand, the classical disorders are not homogeneous, and patients within each diagnosis may present with a range of clinical, biochemical, serological, and histological findings. Singularly, they are considered rare diseases, but together, they account for approximately 20% of LTs in Europe and USA. Management of these patients is complex, as AILDs are relatively uncommon in clinical practice with challenges in developing expertise, disease presentation can be sneaky, clinical phenotypes and disease course are heterogeneous. Prognostic models are key tools for clinicians to assess patients' risk and to provide personalized care to patients. Aim of this review is to discuss challenges of the management of AILDs and how the available prognostic models can help. We will discuss the prognostic models developed in AILDs, with a special focus on the prognostic models that can support the clinical management of patients with AILDs: in PBC models based on ursodeoxycholic acid (UDCA) response and markers of liver fibrosis; in PSC several markers including biochemistry, disease stage and radiological semiquantitative markers; and finally in AIH, markers of disease stage and disease activity.
Topics: Humans; Prognosis; Liver Cirrhosis, Biliary; Cholangitis, Sclerosing; Liver Diseases; Autoimmune Diseases; Hepatitis, Autoimmune
PubMed: 38103932
DOI: 10.1016/j.bpg.2023.101878 -
World Journal of Gastroenterology Nov 2006Celiac disease (CD) is a common autoimmune disorder, induced by the intake of gluten proteins present in wheat, barley and rye. Contrary to common belief, this disorder... (Review)
Review
Celiac disease (CD) is a common autoimmune disorder, induced by the intake of gluten proteins present in wheat, barley and rye. Contrary to common belief, this disorder is a protean systemic disease, rather than merely a pure digestive alteration. CD is closely associated with genes that code HLA-II antigens, mainly of DQ2 and DQ8 classes. Previously, it was considered to be a rare childhood disorder, but is actually considered a frequent condition, present at any age, which may have multiple complications. Tissue transglutaminase-2 (tTG), appears to be an important component of this disease, both, in its pathogenesis and diagnosis. Active CD is characterized by intestinal and/or extra-intestinal symptoms, villous atrophy and crypt hyperplasia, and strongly positive tTG auto-antibodies. The duodenal biopsy is considered to be the "gold standard" for diagnosis, but its practice has significant limitations in its interpretation, especially in adults. Occasionally, it results in a false-negative because of patchy mucosal changes and the presence of mucosal villous atrophy is often more severe in the proximal jejunum, usually not reached by endoscopic biopsies. CD is associated with increased rates of several diseases, such as iron deficiency anemia, osteoporosis, dermatitis herpetiformis, several neurologic and endocrine diseases, persistent chronic hypertransami-nasemia of unknown origin, various types of cancer and other autoimmune disorders. Treatment of CD dictates a strict, life-long gluten-free diet, which results in remission for most individuals, although its effect on some associated extraintestinal manifestations remains to be established.
Topics: Anemia, Iron-Deficiency; Autoimmune Diseases; Celiac Disease; Dermatitis Herpetiformis; Endocrine System Diseases; Glutens; Humans; Lymphoma, Non-Hodgkin; Nervous System Diseases; Osteoporosis; Protein Glutamine gamma Glutamyltransferase 2
PubMed: 17075969
DOI: 10.3748/wjg.v12.i41.6585 -
Hematology. American Society of... Dec 2016Pure red cell aplasia (PRCA) is a syndrome defined by a normocytic normochromic anemia with severe reticulocytopenia and marked reduction or absence of erythroid... (Review)
Review
Pure red cell aplasia (PRCA) is a syndrome defined by a normocytic normochromic anemia with severe reticulocytopenia and marked reduction or absence of erythroid precursors from the bone marrow. Diamond-Blackfan anemia is a congenital form of PRCA. Acquired PRCA may be either a primary disorder or secondary to some other disorder or agent. Primary acquired PRCA is an autoimmune disorder that is frequently antibody-mediated. Myelodysplastic syndromes may also present with the morphologic appearance of PRCA. Secondary acquired PRCA may be associated with collagen vascular/autoimmune disorders such as systemic lupus erythematosus; lymphoproliferative disorders such as chronic lymphocytic leukemia or large granular lymphocyte leukemia; infections, particularly B19 parvovirus; thymoma and other solid tumors; or a variety of other disorders, drugs, or toxic agents. The therapeutic approach to PRCA typically involves immunosuppression, but specific pathogenic subtypes are associated with specific therapeutic approaches. Cyclosporine A, with or without concurrent corticosteroids, appears to be the single most effective immunosuppressive agent.
Topics: Adrenal Cortex Hormones; Anemia, Diamond-Blackfan; Autoimmune Diseases; Cyclosporine; Humans; Immunosuppressive Agents; Leukemia, Large Granular Lymphocytic; Leukemia, Lymphocytic, Chronic, B-Cell; Myelodysplastic Syndromes; Parvoviridae Infections; Parvovirus B19, Human; Thymoma; Vasculitis
PubMed: 27913462
DOI: 10.1182/asheducation-2016.1.51 -
Rheumatology International Aug 2023Systemic lupus erythematosus (SLE) is a complex autoimmune disorder of unknown etiology. Multifactorial interaction among various susceptible factors such as... (Review)
Review
Systemic lupus erythematosus (SLE) is a complex autoimmune disorder of unknown etiology. Multifactorial interaction among various susceptible factors such as environmental, hormonal, and genetic factors makes it more heterogeneous and complex. Genetic and epigenetic modifications have been realized to regulate the immunobiology of lupus through environmental modifications such as diet and nutrition. Although these interactions may vary from population to population, the understanding of these risk factors can enhance the perception of the mechanistic basis of lupus etiology. To recognize the recent advances in lupus, an electronic search was conducted among search engines such as Google Scholar and PubMed, where we found about 30.4% publications of total studies related to genetics and epigenetics, 33.5% publications related to immunobiology and 34% related to environmental factors. These outcomes suggested that management of diet and lifestyle have a direct relationship with the severity of lupus that influence via modulating the complex interaction among genetics and immunobiology. The present review emphasizes the knowledge about the multifactorial interactions between various susceptible factors based on recent advances that will further update the understanding of mechanisms involved in disease pathoetiology. Knowledge of these mechanisms will further assist in the creation of novel diagnostic and therapeutic options.
Topics: Humans; Lupus Erythematosus, Systemic; Autoimmune Diseases; Epigenesis, Genetic; Risk Factors
PubMed: 37226016
DOI: 10.1007/s00296-023-05346-x -
Medicina (Kaunas, Lithuania) Sep 2023Primary Sjögren's syndrome (pSS) is a heterogeneous chronic autoimmune disorder with multiple clinical manifestations that can develop into non-Hodgkin's lymphoma in... (Review)
Review
Primary Sjögren's syndrome (pSS) is a heterogeneous chronic autoimmune disorder with multiple clinical manifestations that can develop into non-Hodgkin's lymphoma in mucosa-associated lymphoid tissue. The pathogenesis of Sjögren's syndrome (SS) is not completely understood, but it is assumed that pathogenesis of SS is multifactorial. The microbiota plays a notable role in the development of autoimmune disorders, including Sjögren's syndrome. Molecular mimicry, metabolite changes and epithelial tolerance breakdown are pathways that might help to clarify the potential contribution of the microbiota to SS pathogenesis. This review aims to provide an overview of recent studies describing microbiota changes and microbiota mechanisms associated with Sjögren's syndrome. Data on the microbiota in SS from PubMed, Web of Science, Scopus and the Cochrane Library databases are summarized. Overall, the microbiota makes a major contribution to the development of Sjögren's syndrome and progression. Future microbiota studies should improve the management of this heterogeneous autoimmune disease.
Topics: Humans; Sjogren's Syndrome; Autoimmune Diseases; Databases, Factual; Microbiota
PubMed: 37763780
DOI: 10.3390/medicina59091661 -
International Journal of Molecular... Nov 2019Cutaneous melanoma represents the most aggressive form of skin cancer, whereas vitiligo is an autoimmune disorder that leads to progressive destruction of skin... (Review)
Review
Cutaneous melanoma represents the most aggressive form of skin cancer, whereas vitiligo is an autoimmune disorder that leads to progressive destruction of skin melanocytes. However, vitiligo has been associated with cutaneous melanoma since the 1970s. Most of the antigens recognized by the immune system are expressed by both melanoma cells and normal melanocytes, explaining why the autoimmune response against melanocytes that led to vitiligo could be also present in melanoma patients. Leukoderma has been also observed as a side effect of melanoma immunotherapy and has always been associated with a favorable prognosis. In this review, we discuss several characteristics of the immune system responses shared by melanoma and vitiligo patients, as well as the significance of occurrence of leukoderma during immunotherapy, with special attention to check-point inhibitors.
Topics: Autoimmune Diseases; Humans; Immunotherapy; Melanoma; Prognosis; Vitiligo
PubMed: 31731645
DOI: 10.3390/ijms20225731 -
Biomedical Papers of the Medical... 2014Autoimmune pancreatitis (AIP) is the specific type of chronic pancreatitis due to autoimmune background and mechanism. (Review)
Review
INTRODUCTION
Autoimmune pancreatitis (AIP) is the specific type of chronic pancreatitis due to autoimmune background and mechanism.
CHARACTERISTICS
The main clinical symptoms of AIP are obstructive jaundice and abdominal discomfort. The typical histological findings are lymphocytes and IgG4 plasma cells infiltration, fibrosis and venulitis within pancreatic gland. Plasma level of IgG4 is usually extremely high.
DIAGNOSIS
High level IgG4 positive plasma cells in serum, lymphoplasmatic infiltration found on histological staining of pancreatic tissue, "sausage-like" pancreas in ultrasound and CT scans, and response to steroid therapy are crucial for making of diagnosis. Classification of AIP: AIP can be classified into two subtypes. Type 1 was recognized as the pancreatic manifestation of multiorgan disorder, called IgG4 related disease. Type 2 is a pancreas-specific disorder not associated with IgG4, with similar histological signs as type 1, but also with the positivity of GEL (granulocythic epithelial lesion).
THERAPY
Due to its high effectivity in AIP treatment, steroid therapy is the first-line option. The alternative therapy is using immunosuppressants (azathioprine). Recently, there are also first experience in biological therapy already published.
CONCLUSION
Before the start of AIP therapy - the differential diagnosis between pancreatic cancer and AIP is essential.
Topics: Anti-Inflammatory Agents; Autoimmune Diseases; Diagnosis, Differential; Humans; Immunoglobulin G; Immunosuppressive Agents; Pancreatitis, Chronic
PubMed: 24572485
DOI: 10.5507/bp.2013.094 -
Frontiers in Immunology 2023Autoimmune disorders (ADs) are a group of about 80 disorders that occur when self-attacking autoantibodies are produced due to failure in the self-tolerance mechanisms.... (Meta-Analysis)
Meta-Analysis
INTRODUCTION
Autoimmune disorders (ADs) are a group of about 80 disorders that occur when self-attacking autoantibodies are produced due to failure in the self-tolerance mechanisms. ADs are polygenic disorders and associations with genes both in the human leukocyte antigen (HLA) region and outside of it have been described. Previous studies have shown that they are highly comorbid with shared genetic risk factors, while epidemiological studies revealed associations between various lifestyle and health-related phenotypes and ADs.
METHODS
Here, for the first time, we performed a comparative polygenic risk score (PRS) - Phenome Wide Association Study (PheWAS) for 11 different ADs (Juvenile Idiopathic Arthritis, Primary Sclerosing Cholangitis, Celiac Disease, Multiple Sclerosis, Rheumatoid Arthritis, Psoriasis, Myasthenia Gravis, Type 1 Diabetes, Systemic Lupus Erythematosus, Vitiligo Late Onset, Vitiligo Early Onset) and 3,254 phenotypes available in the UK Biobank that include a wide range of socio-demographic, lifestyle and health-related outcomes. Additionally, we investigated the genetic relationships of the studied ADs, calculating their genetic correlation and conducting cross-disorder GWAS meta-analyses for the observed AD clusters.
RESULTS
In total, we identified 508 phenotypes significantly associated with at least one AD PRS. 272 phenotypes were significantly associated after excluding variants in the HLA region from the PRS estimation. Through genetic correlation and genetic factor analyses, we identified four genetic factors that run across studied ADs. Cross-trait meta-analyses within each factor revealed pleiotropic genome-wide significant loci.
DISCUSSION
Overall, our study confirms the association of different factors with genetic susceptibility for ADs and reveals novel observations that need to be further explored.
Topics: Humans; Autoimmune Diseases; Diabetes Mellitus, Type 1; HLA Antigens; Phenotype; Polymorphism, Single Nucleotide; Vitiligo
PubMed: 37809097
DOI: 10.3389/fimmu.2023.1147573