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Frontiers in Immunology 2022The coexistence of neuromyelitis optica spectrum disorder (NMOSD) with other autoimmune diseases has been well recognized. However, the causal association between these...
OBJECTIVES
The coexistence of neuromyelitis optica spectrum disorder (NMOSD) with other autoimmune diseases has been well recognized. However, the causal association between these two conditions has not been fully studied. The etiology and therapies of NMOSD coexisting with autoimmune diseases also need to be elucidated.
METHODS
We performed two-sample Mendelian randomization (MR) analysis to examine the causality. Genome-wide association (GWAS) summary data from NMOSD, autoimmune thyroid disease (AITD), systemic lupus erythematosus (SLE), and Sjogren's syndrome (SS) were used to identify genetic instruments. Causal single-nucleotide polymorphisms (SNPs) were annotated and searched for cis-expression quantitative trait loci (cis-eQTL) data. Pathway enrichment analysis was performed to identify the mechanism of NMOSD coexisting with AITD, SLE, and SS. Potential therapeutic chemicals were searched using the Comparative Toxicogenomics Database.
RESULTS
The MR analysis found that AITD, SLE, and SS were causally associated with NMOSD susceptibility, but not vice versa. Gene Ontology (GO) enrichment analysis revealed that MHC class I-related biological processes and the interferon-gamma-mediated signaling pathway may be involved in the pathogenesis of NMOSD coexisting with AITD, SLE, and SS. A total of 30 chemicals were found which could inhibit the biological function of cis-eQTL genes.
CONCLUSIONS
Our findings could help better understand the etiology of NMOSD and provide potential therapeutic targets for patients with coexisting conditions.
Topics: Humans; Autoimmune Diseases; Genome-Wide Association Study; Interferon-gamma; Lupus Erythematosus, Systemic; Neuromyelitis Optica; Sjogren's Syndrome
PubMed: 36248893
DOI: 10.3389/fimmu.2022.959469 -
The Psychiatric Clinics of North America Mar 2023Sydenham chorea (SC), pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS) and pediatric acute-onset neuropsychiatric... (Review)
Review
Neuroinflammation in Obsessive-Compulsive Disorder: Sydenham Chorea, Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections, and Pediatric Acute Onset Neuropsychiatric Syndrome.
Sydenham chorea (SC), pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS) and pediatric acute-onset neuropsychiatric syndrome (PANS) are postinfectious neuroinflammatory diseases that involve the basal ganglia and have obsessive-compulsive disorder as a major manifestation. As is true for many childhood rheumatological diseases and neuroinflammatory diseases, SC, PANDAS and PANS lack clinically available, rigorous diagnostic biomarkers and randomized clinical trials. Research on the treatment of these disorders depend on three complementary modes of intervention including: treating the symptoms, treating the source of inflammation, and treating disturbances of the immune system. Future studies should aim to integrate neuroimaging, inflammation, immunogenetic, and clinical data (noting the stage in the clinical course) to increase our understanding and treatment of SC, PANDAS, PANS, and all other postinfectious/immune-mediated behavioral disorders.
Topics: Child; Humans; Neuroinflammatory Diseases; Chorea; Autoimmune Diseases; Obsessive-Compulsive Disorder; Streptococcal Infections; Inflammation
PubMed: 36740356
DOI: 10.1016/j.psc.2022.11.004 -
Brain and Nerve = Shinkei Kenkyu No... Jun 2023Stiff-person syndrome (SPS) is a rare autoimmune neurological disorder characterized by progressive axial muscle stiffness, central nervous system hyper-excitability,...
Stiff-person syndrome (SPS) is a rare autoimmune neurological disorder characterized by progressive axial muscle stiffness, central nervous system hyper-excitability, and painful stimulus-sensitive muscle spasms. SPS is classified into classic SPS and SPS variants, including stiff-limb syndrome (SLS) and progressive encephalomyelitis with rigidity and myoclonus (PERM), based on clinical presentation. SPS responds to immunotherapy, and several autoantigens have been identified. Most patients with SPS have high-titers of antibodies against glutamic acid decarboxylase (GAD), the rate-limiting enzyme for the synthesis of γ-aminobutyric acid (GABA), and up to 15% of the patients have antibodies against the glycine receptor α-subunit.
Topics: Humans; Stiff-Person Syndrome; Muscle Rigidity; Encephalomyelitis; Autoimmune Diseases of the Nervous System; Central Nervous System; Glutamate Decarboxylase
PubMed: 37287358
DOI: 10.11477/mf.1416202410 -
International Journal of Molecular... Dec 2020Myelin oligodendrocyte glycoprotein (MOG)-associated disease (MOGAD) is a rare, antibody-mediated inflammatory demyelinating disorder of the central nervous system (CNS)... (Review)
Review
Myelin oligodendrocyte glycoprotein (MOG)-associated disease (MOGAD) is a rare, antibody-mediated inflammatory demyelinating disorder of the central nervous system (CNS) with various phenotypes starting from optic neuritis, via transverse myelitis to acute demyelinating encephalomyelitis (ADEM) and cortical encephalitis. Even though sometimes the clinical picture of this condition is similar to the presentation of neuromyelitis optica spectrum disorder (NMOSD), most experts consider MOGAD as a distinct entity with different immune system pathology. MOG is a molecule detected on the outer membrane of myelin sheaths and expressed primarily within the brain, spinal cord and also the optic nerves. Its function is not fully understood but this glycoprotein may act as a cell surface receptor or cell adhesion molecule. The specific outmost location of myelin makes it a potential target for autoimmune antibodies and cell-mediated responses in demyelinating processes. Optic neuritis seems to be the most frequent presenting phenotype in adults and ADEM in children. In adults, the disease course is multiphasic and subsequent relapses increase disability. In children ADEM usually presents as a one-time incident. Luckily, acute immunotherapy is very effective and severe disability (ambulatory and visual) is less frequent than in NMOSD. A critical element of reliable diagnosis is detection of pathogenic serum antibodies MOG with accurate, specific and sensitive methods, preferably with optimized cell-based assay (CBA). MRI imaging can also help in differentiating MOGAD from other neuro-inflammatory disorders. Reports on randomised control trials are limited, but observational open-label experience suggests a role for high-dose steroids and plasma exchange in the treatment of acute attacks, and for immunosuppressive therapies, such as steroids, oral immunosuppressants and rituximab as maintenance treatment. In this review, we present up-to-date clinical, immunological, radiographic, histopathological data concerning MOGAD and summarize the practical aspects of diagnosing and managing patients with this disease.
Topics: Adrenal Cortex Hormones; Animals; Autoantibodies; Demyelinating Autoimmune Diseases, CNS; Humans; Immunosuppressive Agents; Myelin-Oligodendrocyte Glycoprotein; Plasma Exchange; Rituximab
PubMed: 33374173
DOI: 10.3390/ijms22010100 -
Revista de La Facultad de Ciencias... Mar 2022Acquired hemophilia is a hemostasis disorder that occurs due to the presence of inhibitory autoantibodies that are directed against coagulation factor VIII. Clinically,...
INTRODUCTION
Acquired hemophilia is a hemostasis disorder that occurs due to the presence of inhibitory autoantibodies that are directed against coagulation factor VIII. Clinically, it is manifested by spontaneous bleeding mainly in the skin and soft tissues, and unlike hereditary hemophilia ,the presence of hemarthrosis is infrequent. Although many cases are idiopathic, secondary causes must be sought since their treatment is key in the prognosis of the disease. Among these, the presence of autoimmune diseases, neoplasms, drugs, pregnancy, and postpartum stand out. Treatment is based on hemostatic measures to control the bleeding, and therapies to erradicate the autoantibody.
METHODOLOGY
In the following manuscript we describe four patients with acquired hemophilia its etiology, treatment, and prognosis.
RESULTS
All four patients had resolution of the bleeding after specific treatment.
CONCLUSION
Acquired hemophilia is a rare disorder of hemostasis that should be suspected in patients with extensive spontaneous hematomas without prior coagulopathy. Although in many cases an underlying etiology is not found, secondary causes must be sought since their treatment is key to the patient's evolution.
Topics: Autoantibodies; Autoimmune Diseases; Female; Hemophilia A; Humans; Neoplasms; Pregnancy; Prognosis
PubMed: 35312247
DOI: 10.31053/1853.0605.v79.n1.34045 -
Advances in Experimental Medicine and... 2020Alterations of autophagy contribute to the progression of various autoimmune diseases, including systemic lupus erythematosus (SLE), inflammatory bowel disease (IBD),... (Review)
Review
Alterations of autophagy contribute to the progression of various autoimmune diseases, including systemic lupus erythematosus (SLE), inflammatory bowel disease (IBD), rheumatoid arthritis (RA), and systemic sclerosis (SSc). In patients with SLE, autophagy defects result in poor clearance of phagocytic fragments and excessive secretion of inflammatory factors. The disorder of autophagy in IBD patients is closely related to the regulation of inflammatory factors and the clearance of pathogenic pathogens of enteropathy. The increase of autophagy in synovioblasts of RA patients will promote RA-associated synovitis. The autophagy of fibroblasts in SSc patients is dysfunctional, leading to overactive wound healing. Understanding the role of autophagy in the pathogenesis may give us hints on the therapy of autoimmune diseases.
Topics: Arthritis, Rheumatoid; Autoimmune Diseases; Autophagy; Humans; Inflammatory Bowel Diseases; Lupus Erythematosus, Systemic; Scleroderma, Systemic
PubMed: 32671763
DOI: 10.1007/978-981-15-4272-5_28 -
Continuum (Minneapolis, Minn.) Feb 2020Autonomic disorders sometimes occur in the context of systemic autoimmune disease or as a direct consequence of autoimmunity against the nervous system. This article... (Review)
Review
PURPOSE OF REVIEW
Autonomic disorders sometimes occur in the context of systemic autoimmune disease or as a direct consequence of autoimmunity against the nervous system. This article provides an overview of autonomic disorders with potential autoimmune etiology.
RECENT FINDINGS
Recent evidence highlights a close association between the autonomic nervous system and inflammation. The autonomic nervous system regulates immune function, and autonomic manifestations may occur in a number of systemic autoimmune diseases. In a few instances, autoimmunity directly influences autonomic function. Autoimmune autonomic ganglionopathy is the prototypic antibody-mediated autonomic disorder. Over time, a better understanding of the clinical spectrum of autoimmune autonomic ganglionopathy, the significance of ganglionic nicotinic acetylcholine receptor antibodies, other immune-mediated autonomic neuropathies, and autonomic manifestations of other systemic or neurologic autoimmune disorders has emerged.
SUMMARY
Autoimmune autonomic disorders may be challenging, but correct identification of these conditions is important. In some cases, potential exists for effective immunomodulatory treatment.
Topics: Autoimmune Diseases; Autonomic Nervous System Diseases; Humans
PubMed: 31996621
DOI: 10.1212/CON.0000000000000812 -
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 -
Neuropsychopharmacology : Official... Jan 2020Neurological autoimmune diseases are characterized by an inappropriate immune response that by mistake targets the nervous system. As a result, patients experiment a... (Review)
Review
Neurological autoimmune diseases are characterized by an inappropriate immune response that by mistake targets the nervous system. As a result, patients experiment a number of neurological manifestations that may include insomnia, excessive daytime sleepiness, cataplexy, central hypoventilation, and REM sleep behavior disorder. Polysomnographic evaluation may reveal disorganized sleep architecture involving both NREM and REM sleep, and REM sleep intrusions into wakefulness. The study of sleep disorders in the setting of autoimmune diseases (e.g., narcolepsy, anti-IgLON5 disease, paraneoplastic neurological syndromes) shows that an abnormal immune-mediated (humoral or cellular) response target the neuronal structures (e.g., brainstem, hypothalamus) and neurotransmitters systems (e.g., hypocretin) that regulate sleep resulting in sleep impairment. It is a window to examine the link between the autoimmune system and the sleep regulation at the molecular, cellular, and anatomic level.
Topics: Autoimmune Diseases; Humans; Nervous System Diseases; Polysomnography; Sleep; Sleep Wake Disorders; Wakefulness
PubMed: 31302665
DOI: 10.1038/s41386-019-0463-z -
Ugeskrift For Laeger Dec 2022Acquired haemophilia A (AHA) is a rare autoimmune disorder resulting from antibodies against coagulation factor VIII. AHA causes severe, unexpected bleeding which may be...
Acquired haemophilia A (AHA) is a rare autoimmune disorder resulting from antibodies against coagulation factor VIII. AHA causes severe, unexpected bleeding which may be life-threatening and should be considered when a patient with no previous history of bleeding presents with spontaneous bleeding and a prolonged APTT. This case report describes onset of AHA of a 75-year-old male who was admitted to Vejle Hospital with acute need for intubation due to breathing and swallowing problems caused by supraglottic haematoma. The case was complicated by anticoagulant treatment with rivaroxaban.
Topics: Male; Humans; Aged; Hemophilia A; Hematoma; Autoimmune Diseases
PubMed: 36621876
DOI: No ID Found