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European Journal of Haematology Dec 2023Antiphospholipid syndrome is an autoimmune disorder which is characterized by the presence of heterogeneous antiphospholipid antibodies. There is an evidence on... (Review)
Review
Antiphospholipid syndrome is an autoimmune disorder which is characterized by the presence of heterogeneous antiphospholipid antibodies. There is an evidence on antiphospholipid (aPL) antibodies related to thromboembolic events in cancer patients. In fact, the thrombotic complications in patients with malignancy occur at a rather high frequency, compared to other risk factors. In parallel with standard therapies available, there is need of case-by-case monitoring of each patient and the introduction of new therapies and need for more clinical trials which will address many questions for the optimal management of patients. This paper presents a basic review of the literature on the aPL antibodies associated with cardiovascular disease and cancer, as well as its complications, which are reported so far in the bibliography.
Topics: Humans; Antiphospholipid Syndrome; Cardiovascular Diseases; Antibodies, Antiphospholipid; Autoimmune Diseases; Neoplasms
PubMed: 37667555
DOI: 10.1111/ejh.14096 -
Current Neurology and Neuroscience... May 2024Immune-mediated necrotizing myopathy (IMNM), characterized by acute or subacute onset, severe weakness, and elevated creatine kinase levels, poses diagnostic and... (Review)
Review
PURPOSE OF REVIEW
Immune-mediated necrotizing myopathy (IMNM), characterized by acute or subacute onset, severe weakness, and elevated creatine kinase levels, poses diagnostic and therapeutic challenges. This article provides a succinct overview of IMNM, including clinical features, diagnostic strategies, and treatment approaches.
RECENT FINDINGS
Recent insights highlight the different clinical presentations and therapeutic options of IMNM stratified by autoantibody positivity and type. Additionally, recent findings call into question the reported link between statin use and IMNM. This review synthesizes current knowledge on IMNM, emphasizing its distinct clinical features and challenging management. The evolving understanding of IMNM underscores the need for a comprehensive diagnostic approach that utilizes a growing range of modalities. Early and aggressive immunomodulatory therapy remains pivotal. Ongoing research aims to refine diagnostic tools and therapeutic interventions for this challenging muscle disorder, underscoring the importance of advancing our understanding to enhance patient outcomes.
Topics: Humans; Muscle, Skeletal; Necrosis; Myositis; Autoimmune Diseases; Muscular Diseases; Autoantibodies
PubMed: 38589696
DOI: 10.1007/s11910-024-01337-y -
Clinics in Liver Disease Feb 2024Autoimmune hepatitis (AIH) is a chronic immunologic disorder in which the immune system targets the liver. The disease has a genetic basis and this accounts for the... (Review)
Review
Autoimmune hepatitis (AIH) is a chronic immunologic disorder in which the immune system targets the liver. The disease has a genetic basis and this accounts for the epidemiologic variation observed in serologic testing and clinical presentation across different populations. The incidence of AIH increases with age into the 70s and seems to be increasing in prevalence. Most patients test positive for antinuclear antibody, ASMA, or anti-LKM but about 20% of patients do not have these serologic markers. At clinical presentation, patients may be asymptomatic, symptomatic, have acute liver failure, or decompensated cirrhosis.
Topics: Humans; Hepatitis, Autoimmune; Autoantibodies; Antibodies, Antinuclear
PubMed: 37945151
DOI: 10.1016/j.cld.2023.06.002 -
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 -
Current Protein & Peptide Science 2023Multiple sclerosis (MS) is an autoimmune disorder that affects the central nervous system (CNS), including the brain, spinal cord, and optic nerves. The symptoms can... (Review)
Review
Multiple sclerosis (MS) is an autoimmune disorder that affects the central nervous system (CNS), including the brain, spinal cord, and optic nerves. The symptoms can vary from muscle weakness to vision loss. In the case of MS, the immune system attacks the myelin sheath, which protects the nerve fiber and causes inflammation resulting in demyelination. The myelin sheath has the composition of various proteins including membrane proteins and glycoproteins. The four main proteins namely Myelin Basic Protein (MBP), Myelin associated Oligodendrocyte Basic protein (MOBP), Myelin Proteolipid Protein (PLP) and Myelin Associated Glycoprotein (MAG) are known to be critical auto-antigens in causing demyelination in CNS leading to MS. Three out of these four proteins are intrinsically disordered proteins and in this review, we attempted to understand how these proteins play a crucial role in maintaining the integrity of myelin, by exploring its structural and functional aspects and also their auto-antigenicity leading to multiple sclerosis.
Topics: Humans; Multiple Sclerosis; Myelin Proteins; Central Nervous System; Autoimmune Diseases; Spinal Cord; Antigens
PubMed: 37461348
DOI: 10.2174/1389203724666230717124101 -
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 -
Current Opinion in Rheumatology Sep 2019To summarize the recent data regarding Guillain-Barré syndrome (GBS) as an autoimmune disorder following infection with Zika virus (ZIKV) infection, including the... (Review)
Review
PURPOSE OF REVIEW
To summarize the recent data regarding Guillain-Barré syndrome (GBS) as an autoimmune disorder following infection with Zika virus (ZIKV) infection, including the proposed pathogenic mechanisms and the role of autoantibodies.
RECENT FINDINGS
The loss of self-tolerance that leads to autoimmune diseases is a multifactorial process that may be illustrated as 'the mosaic of autoimmunity'. Infectious agents may contribute to the development of autoimmunity by several proposed mechanisms. One of the central mechanisms is molecular mimicry, which is also the most plausible mechanism in the case of ZIKV-induced autoimmune disorders.A recent meta-analysis found a low prevalence of GBS associated with ZIKV infection. Nevertheless, the estimated cost of illness for patients with GBS associated with ZIKV are tremendous and exceed 4.7 million dollars per year in Brazil alone.
SUMMARY
Currently, there is sufficient data to indicate that ZIKV infection is one of many triggers and factors that may contribute to the development GBS. Thus, it is advised to evaluate and determine ZIKV exposure and infection in the management of potential GBS patients.
Topics: Antibodies, Viral; Autoimmunity; Guillain-Barre Syndrome; Humans; Immune Tolerance; Zika Virus; Zika Virus Infection
PubMed: 31246623
DOI: 10.1097/BOR.0000000000000629 -
Current Opinion in Immunology Feb 2023Autoimmune diseases are complex, multifactorial diseases with a polygenic trait and diverse environmental factors that contribute to triggering and exacerbating each... (Review)
Review
Autoimmune diseases are complex, multifactorial diseases with a polygenic trait and diverse environmental factors that contribute to triggering and exacerbating each disorder. The human microbiome is increasingly implicated in the multistep pathogenesis of autoimmune diseases. We summarize here the latest developments in the field of how the microbiota interacts with the host on a cellular and molecular level. We review how pathobionts evolve within the gut of autoimmune-prone hosts to translocate to secondary lymphoid tissues. On mucosal sites and in non-gut tissues, pathobionts trigger autoimmune pathways through various mechanisms, including cross-reactivity with autoantigens and secretion of metabolites that alter immune functions. A better understanding of these mechanisms will hasten the development of unconventional therapeutic approaches for autoimmune diseases.
Topics: Humans; Autoimmunity; Autoimmune Diseases; Autoantigens; Microbiota; Mucous Membrane
PubMed: 36444784
DOI: 10.1016/j.coi.2022.102265 -
Handbook of Clinical Neurology 2021Narcolepsy Type 1 (NT1) is hypothesized to be an autoimmune disease targeting the hypocretin/orexin neurons in the lateral hypothalamus. Ample genetic and epidemiologic... (Review)
Review
Narcolepsy Type 1 (NT1) is hypothesized to be an autoimmune disease targeting the hypocretin/orexin neurons in the lateral hypothalamus. Ample genetic and epidemiologic evidence point in the direction of a pathogenesis involving the immune system. Many autoantibodies have been detected in blood samples from NT1 patients, but none in a consistent manner. Importantly, T cells directed toward hypocretin/orexin neurons have been detected in samples from NT1 patients. However, it remains to be seen if these potentially autoreactive T cells are also present in the hypothalamus and if they are pathogenic. For this reason, NT1 does still not fully meet the criteria for being classified as a genuine autoimmune disease, even though more and more results are pointing in that direction as will be described in this chapter. The autoimmune hypothesis has led to many attempts at slowing or stopping disease progression with immunomodulatory treatment, but so far the overall results have not been very encouraging. It is clear that more research into the pathogenesis of NT1 is needed to establish the precise role of the immune system in disease development.
Topics: Autoantibodies; Autoimmune Diseases; Humans; Hypothalamus; Narcolepsy; Neurons
PubMed: 34238455
DOI: 10.1016/B978-0-12-820683-6.00012-9 -
Revista Colombiana de Psiquiatria... 2022Since 1980, there have been known cases of childhood neuropsychiatric syndromes in the world and its concept has evolved with changes in the definitions in 1995 (PITANDs...
INTRODUCTION
Since 1980, there have been known cases of childhood neuropsychiatric syndromes in the world and its concept has evolved with changes in the definitions in 1995 (PITANDs - paediatric infection-triggered autoimmune neuropsychiatric disorders), 1998 (PANDAS - paediatric autoimmune neuropsychiatric syndrome associated with streptococci infection), 2010 (PANS - paediatric acute-onset neuropsychiatric syndrome) and 2012 (CANS - childhood acute neuropsychiatric syndrome). Despite being known for more than 20 years, it is still an illness that often goes unnoticed by many health professionals.
OBJECTIVE
To sensitise the medical community about the identification of the disease and reduce the morbidity associated with a late diagnosis.
CLINICAL CASE
A 6-year-old schoolgirl brought to the emergency department due to her refusal to eat. In the hospital treatment, a clinical history was identified with PANS-PANDAS diagnostic criteria. She exhibited a relapsing-remitting clinical course, as described in the literature, with poor response to first-line treatments.
CONCLUSIONS
In all school-age child presenting with obsessive compulsive disorder or eating disorders, with other symptoms or not, a possible link to PANS-CANS should be evaluated and ruled out.
Topics: Female; Child; Humans; Obsessive-Compulsive Disorder; Streptococcal Infections; Autoimmune Diseases; Syndrome
PubMed: 36446706
DOI: 10.1016/j.rcpeng.2020.11.013