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Journal of Microbiology, Immunology,... Apr 2023Multisystem inflammatory syndrome in children (MIS-C) is a dysregulated autoimmune-mediated illness in genetically susceptible patients following COVID-19 with an... (Review)
Review
Multisystem inflammatory syndrome in children (MIS-C) is a dysregulated autoimmune-mediated illness in genetically susceptible patients following COVID-19 with an interval of 2-6 weeks. The median age of patients with MIS-C is 6-11 years. Most common manifestations are involvement of gastrointestinal tract, cardiovascular system, hematological system, and mucocutaneous system. Respiratory tract, neurological system, musculoskeletal system, and kidney are less frequently affected. Mucocutaneous manifestations and coronary artery abnormalities characteristic for Kawasaki disease (KD) may be observed in a significant proportion of MIS-C patients that may make the differential diagnosis be difficult for some patients, especially in the post-pandemic era. The mortality rate is 1-3%. Management and prognosis of MIS-C are similar to that of KD. MIS-C and KD may share a common pathogenic process. Based on the observation of MIS-C-like illness in uninfected neonates, i.e. multisystem inflammatory syndrome in neonates, both MIS-C and KD may be a consequence of dysregulated, over-exaggerated humoral immune responses triggered by a specific infectious agent.
Topics: Child; Infant, Newborn; Humans; COVID-19; Systemic Inflammatory Response Syndrome; Autoimmune Diseases; Diagnosis, Differential; Mucocutaneous Lymph Node Syndrome
PubMed: 36720670
DOI: 10.1016/j.jmii.2023.01.001 -
Giornale Italiano Di Dermatologia E... Dec 2019Alopecia areata (AA) is an organ-specific autoimmune disorder that targets anagen phase hair follicles. The course is unpredictable and current available treatments have...
Alopecia areata (AA) is an organ-specific autoimmune disorder that targets anagen phase hair follicles. The course is unpredictable and current available treatments have variable efficacy. Nowadays, there is relatively little evidence on treatment of AA from well-designed clinical trials. Moreover, none of the treatments or devices commonly used to treat AA are specifically approved by the Food and Drug Administration. The Italian Study Group for Cutaneous Annexial Disease of the Italian Society of dermatology proposes these Italian guidelines for diagnosis and treatment of Alopecia Areata deeming useful for the daily management of the disease. This article summarizes evidence-based treatment associated with expert-based recommendations.
Topics: Alopecia Areata; Autoimmune Diseases; Evidence-Based Medicine; Hair Follicle; Humans; Italy
PubMed: 31578836
DOI: 10.23736/S0392-0488.19.06458-7 -
Current Allergy and Asthma Reports Jun 2020Cogan's syndrome (CS) is a rare systemic vasculitis that can severely affect vision and hearing, which may also have significant systemic effects. Early recognition of... (Review)
Review
PURPOSE OF REVIEW
Cogan's syndrome (CS) is a rare systemic vasculitis that can severely affect vision and hearing, which may also have significant systemic effects. Early recognition of this autoimmune disorder and intervention can minimize disabling and irreversible damage.
RECENT FINDINGS
This article will review the varying clinical presentations of CS and emerging information of systemic disease associated with CS. We will also review recently published promising treatment outcomes using immune modulating medications. As our framework for recognizing the markers of CS and the associated systemic disorders expands, more effective guidelines and treatment options may emerge.
Topics: Autoimmune Diseases; Cogan Syndrome; Humans
PubMed: 32548646
DOI: 10.1007/s11882-020-00945-1 -
CNS Drugs Oct 2017Narcolepsy type 1 (NT1) is a rare sleep disorder caused by the very specific loss of hypothalamic hypocretin (Hcrt)/orexin neurons. The exact underlying process leading... (Review)
Review
Narcolepsy type 1 (NT1) is a rare sleep disorder caused by the very specific loss of hypothalamic hypocretin (Hcrt)/orexin neurons. The exact underlying process leading to this destruction is yet unknown, but indirect evidence strongly supports an autoimmune origin. The association with immune-related genetic factors, in particular the strongest association ever reported in a disease with an allele of a human leukocyte antigen (HLA) gene, and with environmental factors (i.e., the H1N1 influenza infection and vaccination during the pandemic in 2009) are in favor of such a hypothesis. The loss of Hcrt neurons is irreversible, and NT1 is currently an incurable and disabling condition. Patients are managed with symptomatic medication, targeting the main symptoms (excessive daytime sleepiness, cataplexy, disturbed nocturnal sleep), and they require a lifelong treatment. Improved diagnostic tools, together with an increased understanding of the pathogenesis of NT1, may lead to new therapeutic and even preventive interventions. One future treatment could include Hcrt replacement, but this neuropeptide does not cross the blood-brain barrier. However, Hcrt receptor agonists may be promising candidates to treat NT1. Another option is immune-based therapies, administered at disease onset, with already some initiatives to slow down or stop the dysimmune process. Whether immune-based therapy could be beneficial in NT1 remains, however, to be proven.
Topics: Animals; Autoimmune Diseases; Causality; Disease Models, Animal; Environmental Exposure; HLA-A Antigens; Humans; Narcolepsy
PubMed: 28940143
DOI: 10.1007/s40263-017-0464-6 -
Clinical Calcium Aug 2007Isolated and acquired hypoparathyroidism occurs as an autoimmune disorder either alone or in association with other autoimmune diseases. Reduced PTH (parathyroid... (Review)
Review
Isolated and acquired hypoparathyroidism occurs as an autoimmune disorder either alone or in association with other autoimmune diseases. Reduced PTH (parathyroid hormone) secretion due to disorder of Ca-sensing regulation in parathyroid gland is most commonly caused by activating mutations of the CaSR (Ca-sensing receptor) gene. There has been accumulating evidence that it also occurs as a result of activating autoantibodies directed to CaSR. Hypoparathyroidism is one of the most common endocrine manifestation in APECED (Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy) , which is also known as APS (Autoimmune Polyendocrinopathy Syndrome) type I . In APECED, the spectrum of epitope responsible for the hypoparathyroidism is presumably CaSR. It remains unclear how autoimmunity against CaSR occurs and how much patients caused by this disorder exist.
Topics: Autoantibodies; Autoimmune Diseases; Cholecalciferol; Humans; Hypoparathyroidism; Polyendocrinopathies, Autoimmune; Receptors, Calcium-Sensing
PubMed: 17660615
DOI: No ID Found -
Current Drug Targets 2020Calcium (Ca2+) ion is a major intracellular signaling messenger, controlling a diverse array of cellular functions like gene expression, secretion, cell growth,... (Review)
Review
BACKGROUND
Calcium (Ca2+) ion is a major intracellular signaling messenger, controlling a diverse array of cellular functions like gene expression, secretion, cell growth, proliferation, and apoptosis. The major mechanism controlling this Ca2+ homeostasis is store-operated Ca2+ release-activated Ca2+ (CRAC) channels. CRAC channels are integral membrane protein majorly constituted via two proteins, the stromal interaction molecule (STIM) and ORAI. Following Ca2+ depletion in the Endoplasmic reticulum (ER) store, STIM1 interacts with ORAI1 and leads to the opening of the CRAC channel gate and consequently allows the influx of Ca2+ ions. A plethora of studies report that aberrant CRAC channel activity due to Loss- or gain-of-function mutations in ORAI1 and STIM1 disturbs this Ca2+ homeostasis and causes several autoimmune disorders. Hence, it clearly indicates that the therapeutic target of CRAC channels provides the space for a new approach to treat autoimmune disorders.
OBJECTIVE
This review aims to provide the key structural and mechanical insights of STIM1, ORAI1 and other molecular modulators involved in CRAC channel regulation.
RESULTS AND CONCLUSION
Understanding the structure and function of the protein is the foremost step towards improving the effective target specificity by limiting their potential side effects. Herein, the review mainly focusses on the structural underpinnings of the CRAC channel gating mechanism along with its biophysical properties that would provide the solid foundation to aid the development of novel targeted drugs for an autoimmune disorder. Finally, the immune deficiencies caused due to mutations in CRAC channel and currently used pharmacological blockers with their limitation are briefly summarized.
Topics: Autoimmune Diseases; Calcium Release Activated Calcium Channels; Calcium Signaling; Humans; ORAI1 Protein; Stromal Interaction Molecule 1
PubMed: 31556856
DOI: 10.2174/1389450120666190926150258 -
Handbook of Clinical Neurology 2016A number of autoantibodies, some paraneoplastic, are associated with sleep disorders. Morvan syndrome and limbic encephalitis, associated with voltage-gated potassium... (Review)
Review
A number of autoantibodies, some paraneoplastic, are associated with sleep disorders. Morvan syndrome and limbic encephalitis, associated with voltage-gated potassium channel-complex antibodies, principally against CASPR2 and LGI1, can result in profound insomnia and rapid eye movement sleep behavior disorder (RBD). Patients with aquaporin-4 antibodies and neuromyelitis optica may develop narcolepsy in association with other evidence of hypothalamic dysfunction, sometimes as the initial presentation. Central sleep apnea and central neurogenic hypoventilation are found in patients with anti-N-methyl-d-aspartate receptor antibody encephalitis, and obstructive sleep apnea, stridor, and hypoventilation are prominent features of a novel tauopathy associated with IgLON5 antibodies. In addition, paraneoplastic diseases may involve the hypothalamus and cause sleep disorders, particularly narcolepsy and RBD in those with Ma1 and Ma2 antibodies. Patients with antineuronal nuclear autoantibodies type 2 may develop stridor. Several lines of evidence suggest that narcolepsy is an autoimmune disorder. There is a strong relationship with the human leukocyte antigen (HLA) DQB1*06:02 haplotype and polymorphisms in the T-cell receptor alpha locus and purinergic receptor P2Y11 genes. Patients with recent-onset narcolepsy may have high titers of antistreptococcal or other antibodies, although none has yet been shown to be disease-specific but, supporting an immune basis, recent evidence indicates that narcolepsy in children can be precipitated by one type of vaccination against the 2009-2010 H1N1 influenza pandemic.
Topics: Autoantibodies; Autoimmune Diseases; Humans; Sleep Wake Disorders
PubMed: 27112685
DOI: 10.1016/B978-0-444-63432-0.00018-9 -
Current Gastroenterology Reports May 2005The list of diseases associated with autoantibodies against tissues, cells, or specific autoantigens is growing, and many organs in the body are known to be affected by...
The list of diseases associated with autoantibodies against tissues, cells, or specific autoantigens is growing, and many organs in the body are known to be affected by autoimmune injury. Until recently, the most well-known pancreatic autoimmune disorder was type 1 diabetes mellitus, where there is selective destruction of beta cells in the islets of Langerhans. Although an autoimmune process affecting the exocrine pancreas was suspected over four decades ago, it is only in the past 10 years or so that autoimmune chronic pancreatitis has been recognized as a distinct entity. Here we review the clinical, serologic, radiologic, and histologic features of autoimmune pancreatitis.
Topics: Acute Disease; Adult; Autoimmune Diseases; Cholangiopancreatography, Endoscopic Retrograde; Diagnosis, Differential; Humans; Hypergammaglobulinemia; Pancreas; Pancreatitis
PubMed: 15802097
DOI: 10.1007/s11894-005-0047-4 -
Current Opinion in Immunology Dec 2005Celiac disease, which results from an immune reaction to ingested cereal gluten proteins, has several autoimmune features. In particular, celiac disease patients produce... (Review)
Review
Celiac disease, which results from an immune reaction to ingested cereal gluten proteins, has several autoimmune features. In particular, celiac disease patients produce highly disease specific IgA and IgG autoantibodies to tissue transglutaminase when they are on a gluten-containing diet, and they have small intestinal intraepithelial lymphocytes which can mediate direct cytotoxicity of enterocytes expressing MIC molecules in an antigen non-specific manner. Similar to typical autoimmune disorders, celiac disease has a multifactorial aetiology with complex genetics, and several autoimmune diseases are commonly presented by patients with celiac disease. Much has been learned about the immunology of celiac disease in recent years, and there is overwhelming evidence that the immune response to gluten is central to the pathogenesis. In light of this, the many autoimmune phenomena associated with celiac disease are thought-provoking, and they challenge us to rethink the boundaries between autoimmunity and immunopathology.
Topics: Autoantibodies; Autoimmune Diseases; Autoimmunity; CD4-Positive T-Lymphocytes; Celiac Disease; Glutens; Humans; T-Lymphocytes
PubMed: 16214317
DOI: 10.1016/j.coi.2005.09.015 -
Clinics in Dermatology 2012The presence of one autoimmune disorder helps lead to the discovery of other autoimmune conditions. It is thought that diseases in which autoimmunity is a feature tend... (Review)
Review
The presence of one autoimmune disorder helps lead to the discovery of other autoimmune conditions. It is thought that diseases in which autoimmunity is a feature tend to be associated together more often than one can ascribe to chance. A variety of diseases have been implicated in the onset of intraepidermal and subepidermal autoimmune diseases. The presence of one autoimmune disease should alert the physician to watch for a second immunologic disorder. A list of autoimmune bullous diseases associations includes autoimmune bullous diseases, pemphigus, pemphigoid, epidermolysis bullosa acquisita, dermatitis herpetiformis (Duhring), linear immunoglobulin A disease, and multiple autoimmune syndrome.
Topics: Animals; Autoantibodies; Autoantigens; Autoimmune Diseases; Causality; Comorbidity; Dermatitis Herpetiformis; Dermis; Epidermis; Epidermolysis Bullosa Acquisita; Humans; Pemphigoid, Benign Mucous Membrane; Pemphigoid, Bullous; Skin; Skin Diseases, Vesiculobullous
PubMed: 22137223
DOI: 10.1016/j.clindermatol.2011.03.006