scholarly journals Immunogenetics of the Ocular Anterior Segment: Lessons from Inherited Disorders

2021 ◽  
Vol 2021 ◽  
pp. 1-19
Author(s):  
Jasmine Y. Serpen ◽  
Stephen T. Armenti ◽  
Lev Prasov
Keyword(s):  
Immune System ◽  
Lupus Erythematosus ◽  
Genetic Disorders ◽  
Anterior Segment ◽  
Adaptive Immune System ◽  
Mendelian Inheritance ◽  
Ocular Involvement ◽  
Inherited Disorders ◽  
Molecular Features ◽  
Organ Systems

Autoimmune and autoinflammatory diseases cause morbidity in multiple organ systems including the ocular anterior segment. Genetic disorders of the innate and adaptive immune system present an avenue to study more common inflammatory disorders and host-pathogen interactions. Many of these Mendelian disorders have ophthalmic manifestations. In this review, we highlight the ophthalmic and molecular features of disorders of the innate immune system. A comprehensive literature review was performed using PubMed and the Online Mendelian Inheritance in Man databases spanning 1973–2020 with a focus on three specific categories of genetic disorders: RIG-I-like receptors and downstream signaling, inflammasomes, and RNA processing disorders. Tissue expression, clinical associations, and animal and functional studies were reviewed for each of these genes. These genes have broad roles in cellular physiology and may be implicated in more common conditions with interferon upregulation including systemic lupus erythematosus and type 1 diabetes. This review contributes to our understanding of rare inherited conditions with ocular involvement and has implications for further characterizing the effect of perturbations in integral molecular pathways.

scholarly journals Systemic Lupus Erythematosus Disease: An Overview of the Clinical Approach to Pathogenesis, Diagnosis, and Treatment

2021 ◽  
Vol 4 (2) ◽  
pp. 91-98
Author(s):  
Saurabh Nimesh ◽  
Md. Iftekhar Ahmad ◽  
Shikhka Dhama ◽  
Pradeep Kumar ◽  
Muhammad Akram ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Immune System ◽  
Chronic Disease ◽  
Lupus Erythematosus ◽  
The Body ◽  
Clinical Approach ◽  
Systemic Lupus Erythematosus Disease ◽  
Systemic Lupus ◽  
Organ Systems ◽  
Novel Approaches

The systemic lupus erythematosus (SLE), commonly known as Lupus, is a rare and complex multisystem autoimmune disease where one’s immune system is overactive, and the body attacks its organ systems. SLE is a historically old disease described already in antiquity; it is an example of a chronic disease with physical, psychological, financial, and social implications for individuals diagnosed. It has inspired medical and basic biological scientists that focus on molecular biology, basic immunology, immunopathology, clinical science, genetics, and epidemiology. The syndrome is real in its existence-although hidden behind obstacles, cumbersome for patients and clinicians, and rebellious for scientists. There is currently no cure for SLE. The goal of treatment is to ease symptoms. This article will review information on the general approach to SLE therapy, focusing on currently approved therapies and novel approaches that might be used in the future.

Developmental systems and their dysfunction

2019 ◽  
pp. 254-272
Author(s):  
John C. Lucchesi
Keyword(s):  
Immune System ◽  
Lupus Erythematosus ◽  
Short Term Memory ◽  
Fragile X ◽  
Adaptive Immune System ◽  
Long Term Memory ◽  
Term Memory ◽  
New Information ◽  
Citrullinated Proteins ◽  
Infected Cells

A specific function performed by the brain is learning—new information is stored as short-term memory by the activation of the transcription factor CREB, and as long-term memory by DNA methylation and demethylation of specific genes. Learning also involves a neuron-specific remodeling complex (BAF) and several micro RNAs (miRNAs) and long non-coding (lncRNAs). Rubinstein–Taybi, Rett or fragile X syndromes, as well as Alzheimer’s, Parkinson’s or Huntington’s diseases, involve epigenetic alterations. Epigenetic misregulation occurs in cardiopathies such as Wolf–Hirschhorn and Kabuki syndromes. The innate immune system consists of cells that can destroy invading bacteria and virus-infected cells, and of circulating proteins that destroy pathogens. The adaptive immune system consists of macrophages and dendritic cells, T lymphocytes and B lymphocytes. Failure to recognize antigens as one’s own leads to autoimmune diseases such as systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). Cells from RA and SLE patients exhibit changes in histone acetyl transferases, deacetylases and methyl transferases, and in miRNAs. Arginines can be converted to citrulline, and citrullinated proteins are considered as non-self by the immune system. RA is characterized by the presence of autoantibodies against citrullinated peptides.

scholarly journals Cytokines as Biomarkers in Systemic Lupus Erythematosus: Value for Diagnosis and Drug Therapy

2021 ◽  
Vol 22 (21) ◽  
pp. 11327
Author(s):  
Helena Idborg ◽  
Vilija Oke
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Immune System ◽  
Lupus Erythematosus ◽  
Autoimmune Response ◽  
Pathophysiological Mechanism ◽  
Cell Nuclei ◽  
Systemic Lupus ◽  
Necrosis Factor Alpha ◽  
Organ Systems ◽  
Extracellular Structures

Systemic Lupus Erythematosus (SLE) is a chronic autoimmune disease. The disease is characterized by activation and dysregulation of both the innate and the adaptive immune systems. The autoimmune response targets self-molecules including cell nuclei, double stranded DNA and other intra and extracellular structures. Multiple susceptibility genes within the immune system have been identified, as well as disturbances in different immune pathways. SLE may affect different organs and organ systems, and organ involvement is diverse among individuals. A universal understanding of pathophysiological mechanism of the disease, as well as directed therapies, are still missing. Cytokines are immunomodulating molecules produced by cells of the immune system. Interferons (IFNs) are a broad group of cytokines, primarily produced by the innate immune system. The IFN system has been observed to be dysregulated in SLE, and therefore IFNs have been extensively studied with a hope to understand the disease mechanisms and identify novel targeted therapies. In several autoimmune diseases identification and subsequent blockade of specific cytokines has led to successful therapies, for example tumor necrosis factor-alpha (TNF-α) inhibition in rheumatoid arthritis. Authors of this review have sought corresponding developments in SLE. In the current review, we cover the actual knowledge on IFNs and other studied cytokines as biomarkers and treatment targets in SLE.

scholarly journals CRISPR as a Versatile Technology for Gene Activation and Genome Editing

2018 ◽  
Vol 4 ◽  
pp. 5
Author(s):  
Habib Rezanejadbardeji ◽  
Bahareh Behroozi-Asl ◽  
Raheleh Amirkhah
Keyword(s):  
Immune System ◽  
Therapeutic Potential ◽  
Genetic Disorders ◽  
Gene Activation ◽  
Adaptive Immune System ◽  
Stem Cell Differentiation ◽  
Zinc Finger Nucleases ◽  
Viral Gene ◽  
Transcription Activator ◽  
Adaptive Immune

CRISPR/Cas system, a microbial adaptive immune system, has rapidly transformed the ways researchers can interrogate the genome. CRISPR has many advantages over traditional methods such as Transcription activator-like effector nucleases (TALEN) and Zinc-finger nucleases (ZFN). Since CRISPR discovery as an adaptive immune system used by bacterial against viruses, it has been repurposed to help in many different genome-related studies such as gene knocking in and out, gene expression upregulation and downregulation. Also CRISPR holds vast therapeutic potential for the management of genetic disorders by straight modifying disease-causing mutations. Although the Cas9 protein has been revealed to attach and cleave DNA at off-target sites, the field of Cas9 specificity is quickly progressing, with marked modifying in guide RNA choice, protein and guide engineering, innovative enzymes, and off-target recognition methods. In current review we mostly focus on CRISPR unique ability in gene activation/ upregulation, which has wide applications in different aspects such as gene studies, stem cell differentiation, and trans-differentiation. Compared to other gene activation methods such as viral gene overexpression, TALEN and ZFN, CRISPR offers many benefits such as easy designing and high precision.

scholarly journals Polyglandular Autoimmune Syndrome Type 3D : A Case Report

2022 ◽  
Author(s):  
Fadel Fikri
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Immune System ◽  
Autoimmune Disease ◽  
Lupus Erythematosus ◽  
Disease Patient ◽  
The Body ◽  
Systemic Lupus ◽  
Metabolic System ◽  
Polyglandular Autoimmune Syndrome ◽  
Organ Systems

Background: Systemic Lupus Erythematosus (SLE) is a complex autoimmune disease characterized by the presence of autoantibodies against cell nuclei and involves many organ systems in the body. The etiopathology of SLE is thought to involve complex and multifactorial interactions between genetic variation and environmental factors. Hyperthyroidism is a disease due to increased thyroid hormone function followed by signs and symptoms that affect the body's metabolic system. Graves' disease is an autoimmune disease characterized by the presence of antibodies to TSHR (TRAb). Several coexisting autoimmune diseases have been classified under different syndromes. Autoimmune Polyglandular Syndrome (PGAS),Case Presentation: A woman, 29 years-old, came to office with complaint of chest palpitation. Patient had history of fever, joint pain, hair loss, and malar rash. Patient had been diagnosed with hyperthyroidism for 4 years and regularly taking propylthiouracil 100 mg and propranolol 10 mg. Titer ANA Test 1/100, Anti ds-DNA 68.08, C3-Complement 93 (N: 83-193), C4-Complement 11.2 (N: 15-57), Free T3 7.79 (N: 1.71-3.71), Free -T4 2.50 (N: 0.70-1.48), TSHs 0.0001 (N: 0.350-4.94), TRAb 3.38 (N: < 1.75). Patient was diagnosed with systemic lupus erythematosus (SLE) and grave's disease. Patient treated with methimazole 10 mg, propranolol 10 mg, myfortic 360 mg, and methylprednisolone 4 mg.Conclusion: Autoimmune Polyendocrine Syndromes (APS) was at first characterized as different endocrine organ diseases related to an immune system disease in a subject. Hence, affiliation between illnesses in APS was noted not to be irregular but in specific combinations in which a few non-endocrine immune system diseases were moreover portion of the disorders.

scholarly journals Gene-Set Enrichment Analysis of Differentially Expressed Genes of Amniotic-Fluid RNA Providing Insights into the Phenotype of Turner’s Syndrome

2018 ◽  
Author(s):  
Sarbojoy Saha ◽  
Shampa Barmon
Keyword(s):  
Gene Expression ◽  
Immune System ◽  
Amniotic Fluid ◽  
Genetic Disorders ◽  
Enrichment Analysis ◽  
Global Gene Expression ◽  
Gene Set Enrichment Analysis ◽  
Organ Systems ◽  
Expression Atlas ◽  
Biological Interpretation

Genetic disorders are quite a major topic of discussion and debate in the recent world of biological sciences. Turner’s syndrome is one such disorder caused by a chromosome aneuploidy and it has characteristic symptoms in the patient or the affected individual.  The amniotic fluid is a complex biological material found in the amniotic sac of pregnant women and they can provide valuable knowledge and understanding of the pathogenesis of this particular chromosomal abnormality. In this study, global gene expression analysis of cell-free RNA in amniotic fluid supernatant was used to detect genes/organ systems which may be significant in the pathophysiology of Turner’s syndrome. The cell-free RNA from the amniotic fluid of five mid-trimester Turner’s syndrome fetuses and five euploid female fetuses matched for age of gestation were extracted, amplified and hybridized onto Affymetrix U33 Plus 2.0. array. The paired t-test was used to identify the significantly differentially regulated genes. Biological interpretation was conducted using ingenuity pathway analysis and BioGPS gene expression atlas. Of the genes, XIST was especially downregulated and SHOX was not expressed differentially. One of the most highly represented organ systems was the hematologic/immune system, differentiating the transcriptome of Turner’s syndrome from other chromosomal aneuploidies that are discussed in this area of science. The differences in the transcriptome of the Turner’s syndrome are due to genome-wide dysregulation. The hematologic/immune system differences are significant in early-onset autoimmune dysfunction. There are other genes which have been identified that are associated with the cardiovascular and the skeletal system, as these are often seen to be affected in the female patients with turner’s syndrome. Hopefully, such knowledge gained from this study will help us to understand the deeper mechanisms of this disorder and the possible treatments of this disease.

scholarly journals Autoimmune Polyglandular Syndrome Type 3-D

2022 ◽  
Author(s):  
Fadel Fikri Suharto ◽  
RM Dewi Anggraini ◽  
Ardianto Tamin ◽  
Della Fitricana ◽  
Nova Kurniati ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Immune System ◽  
Autoimmune Disease ◽  
Lupus Erythematosus ◽  
Disease Patient ◽  
The Body ◽  
Graves Disease ◽  
Systemic Lupus ◽  
Metabolic System ◽  
Organ Systems

Background: Systemic Lupus Erythematosus (SLE) is a complex autoimmune disease characterized by the presence of autoantibodies against cell nuclei and involves many organ systems in the body. The etiopathology of SLE is thought to involve complex and multifactorial interactions between genetic variation and environmental factors. Hyperthyroidism is a disease due to increased thyroid hormone function followed by signs and symptoms that affect the body's metabolic system. Graves' disease is an autoimmune disease characterized by the presence of antibodies to TSHR (TRAb). Several coexisting autoimmune diseases have been classified under different syndromes. Case Presentation: A woman, 29 years-old, came to office with complaint of chest palpitation. Patient had history of fever, joint pain, hair loss, and malar rash. Patient had been diagnosed with hyperthyroidism for 4 years and regularly taking propylthiouracil 100 mg and propranolol 10 mg. Titer ANA Test 1/100, Anti ds-DNA 68.08, C3-Complement 93 (N: 83-193), C4-Complement 11.2 (N: 15-57), Free T3 7.79 (N: 1.71-3.71), Free -T4 2.50 (N: 0.70-1.48), TSHs 0.0001 (N: 0.350-4.94), TRAb 3.38 (N: < 1.75). Patient was diagnosed with systemic lupus erythematosus (SLE) and graves’ disease. Patient treated with methimazole 10 mg, propranolol 10 mg, myfortic 360 mg, and methylprednisolone 4 mg. Conclusion: Autoimmune Polyendocrine Syndromes (APS) was at first characterized as different endocrine organ diseases related to an immune system disease in a subject. Hence, affiliation between illnesses in APS was noted not to be irregular but in specific combinations in which a few non-endocrine immune system diseases were moreover portion of the disorders.

scholarly journals The Impact of Nanoparticles on the Immune System: A Gray Zone of Nanomedicine

2021 ◽  
Vol 5 (1) ◽  
pp. 19-33
Author(s):  
Priyanka Ray ◽  
Noor Haideri ◽  
Inamul Haque ◽  
Omar Mohammed ◽  
Saborni Chakraborty ◽  
...  
Keyword(s):  
Immune System ◽  
Genetic Disorders ◽  
Survival Rates ◽  
Adaptive Immune System ◽  
Gray Zone ◽  
Meaningful Change ◽  
Surface Receptors ◽  
Adaptive Immune ◽  
System A ◽  
The Impact

Since the early days marking the first use of nanomedicine in the early 80s, there has been a meaningful change in the scientific field involving the Fabrication, characterization, and application of nanomaterials to treat many diseases, including cancers and genetic disorders. As unique and attractive properties of this novel class of materials unraveled, significant advances and discoveries were made over time. Addressing several challenges posed by conventional therapy, which were the only available treatment option for ailing patients, nanomedicine provided enhanced benefits, including reduced dosing, improved pharmacokinetics, and superior targeting efficiency. Several such formulations have successfully made their way to clinics and have shown promise in prolonging terminally ill patient populations' survival rates. However, the complex immune system and its various components, including various proteins and surface receptors, have made nanomaterials' journey from benchtop to the bedside a treacherous one. The innate and adaptive immune system interactions with nanomaterials are still under investigation and full of mysteries. This review highlights the various aspects of therapeutic nanocarriers and their current understanding of their immune systems' interactions.

Systemic lupus erythematosus

2018 ◽  
Author(s):  
Chee-Seng Yee
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Immune System ◽  
Lupus Erythematosus ◽  
Cell Function ◽  
Adaptive Immune System ◽  
Unknown Etiology ◽  
Inflammatory Disorder ◽  
Systemic Lupus ◽  
Autoantibody Production ◽  
Cellular Apoptosis

Systemic lupus erythematosus is a chronic multisystem autoimmune inflammatory disorder of unknown etiology. Numerous abnormalities within the innate and adaptive immune system have been described. The hallmark of this disease is B-cell hyperactivity resulting in autoantibody production, abnormal T-cell function, impaired clearance of immune complexes (resulting in their deposition in tissues), complement activation, and defective cellular apoptosis. However, these abnormalities of the immune system are not uniform across patients or within the same patient at different stages of the disease, resulting in heterogeneity in its presentation and progress.

Aetiopathogenesis of systemic lupus erythematosus

2016 ◽  
Author(s):  
Peter Lloyd ◽  
Sarah Doaty ◽  
Bevra H. Hahn
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Immune System ◽  
Lupus Erythematosus ◽  
Adaptive Immune System ◽  
Immune Dysregulation ◽  
Systemic Lupus ◽  
Adaptive Immune ◽  
Loss Of Tolerance ◽  
Three Stages

Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by the presence of immune dysregulation, autoreactive B and T cells, and the production of a broad, heterogeneous group of autoantibodies (autoAb). The pathogenesis of lupus can be divided into three stages: 1) genetic predisposition and environmental exposures, 2) loss of tolerance, and 3) immune activation. In this chapter we will discuss the aetiopathogenesis of systemic lupus erythematosus with emphasis placed on key autoantibodies, cytokines, the innate and adaptive immune system, tolerance, NETosis, genetics and epigenetics, environmental triggers and the role of gender.

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