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Dermatology (Basel, Switzerland) 2022Neuromyelitis optica spectrum disorder is characterized by attacks of optic neuritis and/or longitudinally extensive transverse myelitis and the presence of... (Review)
Review
Neuromyelitis optica spectrum disorder is characterized by attacks of optic neuritis and/or longitudinally extensive transverse myelitis and the presence of anti-aquaporin-4 autoantibodies. Most relapses of neuromyelitis optica worsen over days and then slowly improve in the weeks or months after the maximum clinical deficit has been reached. However, recovery is usually incomplete. The diagnosis of the disease and attacks must be made as early as possible and require emergency treatment. Dermatologists can play a role in achieving this end. Neuropathic pruritus is common and can be used to diagnose neuromyelitis optica. Hence, the association of pruritus with optic neuropathy and some symptoms of transverse myelitis strongly suggest this diagnosis. Many autoimmune diseases can sometimes be associated with neuromyelitis optica. Patients with newly diagnosed skin infections or sexually transmitted diseases need to be informed that these infections could trigger a relapse of neuromyelitis optica.
Topics: Aquaporin 4; Autoantibodies; Humans; Myelitis, Transverse; Neoplasm Recurrence, Local; Neuromyelitis Optica; Pruritus
PubMed: 35249011
DOI: 10.1159/000522168 -
Proceedings of the National Academy of... Feb 2024Immune-mediated necrotizing myopathy (IMNM) is an autoimmune disorder associated with the presence of autoantibodies, characterized by severe clinical presentation with...
Immune-mediated necrotizing myopathy (IMNM) is an autoimmune disorder associated with the presence of autoantibodies, characterized by severe clinical presentation with rapidly progressive muscular weakness and elevated levels of creatine kinase, while traditional pharmacological approaches possess varying and often limited effects. Considering the pathogenic role of autoantibodies, chimeric antigen receptor (CAR)-T cells targeting B cell maturation antigen (BCMA) have emerged as a promising therapeutic strategy. We reported here a patient with anti-signal recognition particle IMNM refractory to multiple available therapies, who was treated with BCMA-targeting CAR-T cells, exhibited favorable safety profiles, sustained reduction in pathogenic autoantibodies, and persistent clinical improvements over 18 mo. Longitudinal single-cell RNA, B cell receptor, T cell receptor sequencing analysis presented the normalization of immune microenvironment after CAR-T cell infusion, including reconstitution of B cell lineages, replacement of T cell subclusters, and suppression of overactivated immune cells. Analysis on characteristics of CAR-T cells in IMNM demonstrated a more active expansion of CD8 CAR-T cells, with a dynamic phenotype shifting pattern similar in CD4 and CD8 CAR-T cells. A comparison of CD8 CAR-T cells in patients with IMNM and those with malignancies collected at different timepoints revealed a more NK-like phenotype with enhanced tendency of cell death and neuroinflammation and inhibited proliferating ability of CD8 CAR-T cells in IMNM while neuroinflammation might be the distinct characteristics. Further studies are warranted to define the molecular features of CAR-T cells in autoimmunity and to seek higher efficiency and longer persistence of CAR-T cells in treating autoimmune disorders.
Topics: Humans; Receptors, Chimeric Antigen; Multiple Myeloma; B-Cell Maturation Antigen; Neuroinflammatory Diseases; Immunotherapy, Adoptive; Autoimmune Diseases; Autoantibodies; Muscular Diseases; Single-Cell Analysis; Cell- and Tissue-Based Therapy; Tumor Microenvironment
PubMed: 38289960
DOI: 10.1073/pnas.2315990121 -
Frontiers in Immunology 2020
Topics: Animals; Autoimmune Diseases; Autoimmunity; Disease Management; Disease Susceptibility; Humans; Pemphigoid, Bullous; Pemphigus
PubMed: 32793239
DOI: 10.3389/fimmu.2020.01614 -
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 -
Frontiers in Immunology 2021Vitamin D (cholecalciferol) is a secosteroid and prohormone which is metabolized in various tissues to the biologically most active vitamin D hormone 1,25(OH)D...
Vitamin D (cholecalciferol) is a secosteroid and prohormone which is metabolized in various tissues to the biologically most active vitamin D hormone 1,25(OH)D (calcitriol). 1,25(OH)D has multiple pleiotropic effects, particularly within the immune system, and is increasingly utilized not only within prophylaxis, but also within therapy of various diseases. In this context, the latest research has revealed clinical benefits of high dose vitamin D therapy in autoimmune diseases. The necessity of high doses of vitamin D for treatment success can be explained by the concept of an acquired form of vitamin D resistance. Its etiology is based on the one hand on polymorphisms within genes affecting the vitamin D system, causing susceptibility towards developing low vitamin D responsiveness and autoimmune diseases; on the other hand it is based on a blockade of vitamin D receptor signaling, e.g. through pathogen infections. In this paper, we review observational and mechanistic evidence for the acquired vitamin D resistance hypothesis. We particularly focus on its clinical confirmation from our experience of treating multiple sclerosis patients with the so-called Coimbra protocol, in which daily doses up to 1000 I.U. vitamin D per kg body weight can be administered safely. Parathyroid hormone levels in serum thereby provide the key information for finding the right dose. We argue that acquired vitamin D resistance provides a plausible pathomechanism for the development of autoimmune diseases, which could be treated using high-dose vitamin D therapy.
Topics: Autoimmune Diseases; Biomarkers; Disease Susceptibility; Drug Resistance; Humans; Receptors, Calcitriol; Vitamin D
PubMed: 33897704
DOI: 10.3389/fimmu.2021.655739 -
Clinical and Experimental Medicine Nov 2023Clinical observations suggest that the prevalence of autoimmune diseases is changing over time. Both autoimmune liver diseases and multiple sclerosis have shown a... (Review)
Review
Clinical observations suggest that the prevalence of autoimmune diseases is changing over time. Both autoimmune liver diseases and multiple sclerosis have shown a significant increase in the last decades. Although the coexistence of autoimmune diseases within individuals and families is a common phenomenon, the extent to which liver disease and multiple sclerosis co-occur is not clear. Case reports and few studies have reported the possible coexistence of multiple sclerosis with thyroid diseases, inflammatory bowel disease, psoriasis, and rheumatoid arthritis. It is unknown whether there is a definite association between multiple sclerosis and autoimmune liver diseases. We reviewed the literature to summarize the available studies on the association between different autoimmune liver diseases (autoimmune hepatitis, primary biliary cholangitis, and primary sclerosing cholangitis) and treated or untreated multiple sclerosis.
Topics: Humans; Multiple Sclerosis; Autoimmune Diseases; Liver Diseases; Hepatitis, Autoimmune; Inflammatory Bowel Diseases; Psoriasis; Liver Cirrhosis, Biliary
PubMed: 37421590
DOI: 10.1007/s10238-023-01128-8 -
Frontiers in Immunology 2020
Topics: Autoantibodies; Autoimmune Diseases; Autoimmunity; Disease Management; Disease Susceptibility; Humans; Kidney Diseases
PubMed: 33042166
DOI: 10.3389/fimmu.2020.591338 -
Gastroenterology Jun 2024Celiac disease (CeD) is a chronic immune-mediated condition triggered by gluten consumption in genetically predisposed individuals. Approximately 1% of the general... (Review)
Review
Celiac disease (CeD) is a chronic immune-mediated condition triggered by gluten consumption in genetically predisposed individuals. Approximately 1% of the general population is affected by the disorder. Disease presentation is heterogeneous and, despite growing awareness among physicians and the public, it continues to be underestimated. The most effective strategy for identifying undiagnosed CeD is proactive case finding through serologic testing in high-risk groups. We reviewed the most recent evidence on the association between CeD and more than 20 conditions. In light of this review, CeD screening is recommended in individuals with (1) autoimmune disease and accompanying symptoms suggestive of CeD; (2) diseases that may mimic CeD (eg, irritable bowel syndrome [IBS], inflammatory bowel disease [IBD], and microscopic colitis); and (3) among patients with conditions with a high CeD prevalence: first-degree relatives, idiopathic pancreatitis, unexplained liver enzyme abnormalities, autoimmune hepatitis, primary biliary cholangitis, hyposplenism or functional asplenia with severe bacterial infection, type 1 diabetes mellitus, Hashimoto's thyroiditis and Graves' disease, Sjögren's syndrome, dermatitis herpetiformis, recurrent aphthous syndrome and enamel defects, unexplained ataxia, peripheral neuropathy, delayed menarche or premature menopause, Down syndrome, Turner syndrome, Williams syndrome, chronic fatigue syndrome, IgA nephropathy, and IgA deficiency. CeD serology should be the initial step in the screening process. However, for patients with any of the aforementioned disorders who are undergoing upper endoscopy, biopsies should be performed to rule out CeD.
Topics: Humans; Celiac Disease; Autoimmune Diseases; Diagnosis, Differential; Inflammatory Bowel Diseases; Serologic Tests; Risk Factors; Prevalence; Genetic Predisposition to Disease
PubMed: 38460606
DOI: 10.1053/j.gastro.2024.02.044 -
Frontiers in Endocrinology 2022Graves' orbitopathy (GO) is a complex autoimmune disorder of the orbit that causes the eye to appear disfigured. GO is typically associated with Graves' disease, an... (Review)
Review
Graves' orbitopathy (GO) is a complex autoimmune disorder of the orbit that causes the eye to appear disfigured. GO is typically associated with Graves' disease, an inflammatory autoimmune condition that is caused by thyrotropin receptor autoantibodies. Although our knowledge of the pathophysiology of GO has improved, its exact pathogenesis remains unclear. Some patients suffer from disfigurement, double vision, and even vision loss rather than hyperthyroidism. The disease severity and activity prompt different treatments, as the signs of GO are heterogeneous, so their management can be very complex. Despite medical advances, the first-line treatment for moderate-to-severe active GO is still glucocorticoids, while surgery can be critical for the treatment of chronic inactive GO. Surgery is sometimes required in the acute phase of the disease when there is an immediate risk to vision, such as in dysthyroid optic neuropathy. Most surgeries for GO are rehabilitative and subdivided into three categories: decompression, strabismus repair, and lid surgery. This review is a basic overview of the field, with up-to-date knowledge of the surgical techniques for GO. We review and summarize recent literature on the advances in surgery for GO to provide up-to-date insights on the optimal surgical treatment for GO.
Topics: Humans; Graves Disease; Graves Ophthalmopathy; Hyperthyroidism; Optic Nerve Diseases; Orbit
PubMed: 36824601
DOI: 10.3389/fendo.2022.1080204 -
Ugeskrift For Laeger Nov 2019The aim of this review is to summarise the status of autoimmune pancreatitis (AIP), which is a rare disease, occasionally misdiagnosed as pancreatic cancer. AIP consists... (Review)
Review
The aim of this review is to summarise the status of autoimmune pancreatitis (AIP), which is a rare disease, occasionally misdiagnosed as pancreatic cancer. AIP consists of two distinct types, which differ in histopathology, association with other diseases and age of onset. Clinically, it is characterised by obstructive jaundice and abdominal pain. The disease shows rapid response to steroids. Rituximab can also be used as induction therapy. Often long-term treatment is necessary to maintain remission.
Topics: Autoimmune Diseases; Autoimmune Pancreatitis; Humans; Immunologic Factors; Pancreatic Neoplasms; Rituximab
PubMed: 31791461
DOI: No ID Found