Abnormal autoimmune activity has been implicated in a number of neuropsychiatric disorders. In this review, the authors discuss a newly recognized class of synaptic autoimmune encephalitides as well as behavioral and cognitive manifestations of systemic autoimmune diseases. PMID:21304144

ABSTRACT: Recent genome-wide association studies have advanced our understanding of genetic factors that underlie systemic lupus erythematosus (SLE), a multifactorial autoimmune disease characterized by various clinical manifestations. SLE also has an environmental component, which can trigger or exacerbate the disease. Despite extensive efforts aimed at elucidating the ...

Background and AimsAutoimmune gastrointestinal dysmotility is a limited autoimmune dysautonomia occurring idiopathically or in the context of an anatomically remote neoplasm, previously documented or unsuspected. Here we report 24 Mayo Clinic patients in whom the profile of serum autoantibodies aided this diagnosis.MethodsAll patients ...

BackgroundThe study aimed at evaluating the prevalence of thyroid function abnormalities in patients with alopecia areata (AA) and its association with other autoimmune diseases and various autoimmune antibodies.MethodWe retrospectively analyzed medical records of 123 patients with AA. The main site of involvement, pattern, and extent ...

The two major autoimmune thyroid diseases (ATDs) include Graves' disease (GD) and autoimmune thyroiditis (AT); both of which are characterized by infiltration of the thyroid by T and B cells reactive to thyroid antigens, by the production of thyroid autoantibodies and by abnormal thyroid function (hyperthyroidism in GD and ...

Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity Lausch et al. (2011) Nature Genetics 43(2):132-137. PMID:21476995

The etiology and mechanisms of pathogenesis of human peripartum cardiomyopathy (PPCM) remain unknown. The incidence and prevalence of this disease is rare in some parts of the world and more common in others. The purpose of this review is to summarize our current knowledge of the factors that have been entertained which may contribute to the pathogenesis of PPCM with special emphasis on more ...

... b. serum protein abnormalities i. multiple myeloma ii. Waldenstromrs macroglobulinemia iii. pregnant women c. autoimmune hemolytic anemia d. oncology patients ...

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease characterized by production of antinuclear autoantibodies and diverse array of clinical manifestations. T cells from patients with SLE have been shown to be activated in vivo and provide help to autoreactive B cells. Lupus T cells exhibit enhanced spontaneous and diminished activation-induced apoptosis and ...

Predisposition to autoimmune disorder in Lewis rats has been associated with abnormal hypothalamic regulation of circulating steroids, leading to inadequate suppression of T helper 1 (Th1) cell-mediated inflammatory reactions. In addition, autoimmune syndromes can be triggered within formerly resistant animals, following damage to the ...

We present a first trimester scan suspicious of fetal anterior cephalocele due to the finding of a fetus with an abnormal profile and an abnormal facial angle, with a subsequent early confirmation at 16 weeks of gestation. PMID:19968591

Inflammatory bowel disease (IBD) is the consequence of an abnormal immune response to environmental factors in genetically susceptible hosts. microRNAs (miRNAs) are small, 22-nucleotide, noncoding, single-stranded RNA molecules involved in the post-tran-scriptional regulation of 30% of protein-coding genes. Differential expression of miRNAs is described in multiple ...

). In collaboration with Bernhard Herrmann's department, we have demonstrated the pres- ence of modifiers on autoimmunity, including systemic and organ-specific autoimmune diseases. Screening for puta- tive auto-antigens and NGS. Autoantigene profiling for multiple sclerosis and AD, or therapy response prediction in systemic

Autoimmune bullous disorders frequently cause nail abnormalities, particularly paronychia and onychomadesis. In pemphigus vulgaris (PV) nail abnormalities can even precede skin findings. Nail lesions often relapse just before generalized disease exacerbation or recurrence. Severe nail changes are often associated with extensive and ...

Donor NZB mice were treated with various regimens of thymosin in an attempt to preserve a normal DNA synthetic response in 8 week old NZB thymocytes. Results suggest that abnormal thymocyte differentiation and loss of suppression can be prevented by administration of thymosin either prophylactically to young mice (under 28 days) or in larger doses to older mice (35 days). It ...

Multiple sclerosis (MS) is an autoimmune inflammatory demyelinating disease of the central nervous system (CNS). Most of autoimmune diseases arise by an abnormal activation of the inflammatory response against self-antigens (most of them unknown up to date) as a consequence of dysfunction in peripheral tolerance. Regulatory T-cells are ...

Natural antibodies are autoreactive/polyreactive antibodies believed to be secreted in the absence of xenoantigens. The origin and functional role of this limited and selective autoimmunity are not clear, nor is the specificity and range of autoantigens that drive the development of B cells producing natural antibodies. In this issue of the JCI, Merbl et al. report that in ...

In patients with chronic hepatitis, the diagnosis of autoimmune hepatitis is made on the basis of increased gamma-globulin levels and the presence of circulating autoantibodies. Because these test results are not abnormal universally in patients with autoimmune hepatitis, liver biopsy remains an important part of the evaluation. The ...

Objectives Cerebral abnormalities detected by cranial ultrasound (cUS) have been reported in infants born to mothers with autoimmune disease. However, the pathogenesis of the infants' brain injury remains unclear. The authors aimed to study the possible association between abnormalities on neonatal cUS and perinatal factors related to ...

IntroductionSystemic lupus erythematosus (SLE) is a prototypical autoimmune disease characterized by various systemic symptoms and multiple organ damage. We clarify biological and functional abnormalities in SLE by comparing the gene expression profiles of SLE patients with those of healthy individuals.MethodsGene expression ...

Autoimmunity forms the basis of many rheumatological diseases, and may contribute not only to the classical clinical manifestations but also to the complications. Many of the autoimmune rheumatological diseases, including rheumatoid arthritis and systemic lupus erythematosus are associated with an excess cardiovascular morbidity and mortality. Much of this ...

A patient with partial lipodystrophy, fatty liver and cirrhosis, and autoimmune thyroid disease is described. Treatment with thyroxine led to partial improvement in the hepatic abnormality.ImagesFigure 1Figure 2Figure 3Figure 4Figure 5

Takotsubo cardiomyopathy (TCM) is a poorly understood condition in which patients with chest pain have a transient ampulla-shaped abnormality of the left ventriculogram, and intact coronary arteries. We report TCM in combination with autoimmune polyendocrine syndrome type II (APS II), which raises new questions about the pathogenesis of TCM. PMID:19304138

A 28-year-old serving soldier presented with patchy areas of absence of sweating and blurring of vision. On examination he was found to have segmental anhidrosis, right sided tonic pupil and absent ankle jerks. Investigations revealed ANA positivity with no other abnormalities. He was treated with Intravenous immunoglobulin. This case of Ross syndrome is reported for its ...

A 22-month-old toddler presented with involuntary movements, hemiparesis, and behavioral changes. Magnetic resonance imaging showed no abnormality, but positron emission tomography (PET) showed focal hypermetabolism. By immunohistochemical technique with the patient's sera in control brain sections, autoantibodies recognizing the same areas as found by PET scanning were ...

In 2000, fishermen reported the appearance of deformed reproductive organs in whitefish (Coregonus spp.) from Lake Thun, Switzerland. Despite intensive investigations, the causes of these abnormalities remain unknown. Using gene expression profiling, we sought to identify candidate genes and physiological processes possibly associated with the observed ...

In 2000, fishermen reported the appearance of deformed reproductive organs in whitefish (Coregonus spp.) from Lake Thun, Switzerland. Despite intensive investigations, the causes of these abnormalities remain unknown. Using gene expression profiling, we sought to identify candidate genes and physiological processes possibly associated with the observed ...

The nuclear hormone receptor peroxisome proliferator-activated receptor ? (PPAR?) was shown to play an immunoregulatory role in many immune-related cell types, and activation of PPAR? was reported to be an effective therapeutic approach in murine and human autoimmune disease. However, despite an association between lymphopenia and autoimmunity, there has ...

Systemic lupus erythematosus (SLE) is an autoimmune disease caused by abnormal immune regulation and excessive production of autoantibodies, which characterized by T and B cell dysfunction and excessive production of pathological cytokines and autoantibodies. Vascular endothelia and subendothelial collagen were injured by harmful antibodies, so that the ...

Our objective was to evaluate the effect of stress-related dose of dopamine (DA) on the in vitro proliferation and cytokine production in polyclonally-activated T cells from healthy individuals or individuals with generalized anxiety disorder (GAD). Our results demonstrated that cell cultures from GAD group proliferated less following T cell activation, as compared with control group. The addition ...

A patient presented with chronic substernal discomfort and intermittent dysphagia for solids. High-resolution impedance manometry (HRIM) of the esophagus showed that there was no peristalsis in the esophageal body, but incomplete relaxation of the lower esophageal sphincter and incomplete bolus transit, so the patient was diagnosed with achalasia. Moreover, probably because of esophageal stasis, ...

BackgroundThe exact cause of schizophrenia is not known, although several aetiological theories have been proposed for the disease, including developmental or neurodegenerative processes, neurotransmitter abnormalities, viral infection and immune dysfunction or autoimmune mechanisms. Growing evidence suggests that specific cytokines and chemokines play a ...

The incidence of autoimmune disorders is increasing worldwide. Several theories have been proposed to explain how the breakdown in the balance between autoregulatory immune pathways and pathogenic autoreactivity generate autoimmunity. On the basis of a large body of epidemiological, clinical and experimental evidence, it has been suggested that an ...

In essence, normal thymus function involves the production of a broad repertoire of ??T cells capable of responding to foreign antigens with low risk of autoreactivity. Thymic epithelial cells are an essential component of the thymic stromal microenvironment, promoting the growth and export of self-tolerant thymocytes. Autoimmune disease, resulting from a loss of ...

Autoimmune diseases are among the most prevalent of afflictions, yet the genetic factors responsible are largely undefined. Protein glycosylation in the Golgi apparatus produces structural variation at the cell surface and contributes to immune self-recognition. Altered protein glycosylation and antibodies that recognize endogenous glycans have been associated with ...

The EEG patterns seen with encephalopathies can be correlated to cerebral imaging findings including head computerized tomography and MRI. Background slowing without slow-wave intrusion is seen with acute and chronic cortical impairments that spare subcortical white matter. Subcortical/white matter structural abnormalities or hydrocephalus may produce projected slow-wave ...

Systemic lupus erythematosus (SLE) is an autoimmune disease resulting from a loss of tolerance to multiple self antigens, and characterized by autoantibody production and inflammatory cell infiltration in target organs, such as the kidneys and brain. T cells are critical players in SLE pathophysiology as they regulate B cell responses and also infiltrate target tissues, ...

Long-term effects of allogeneic bone marrow transplantation (ABMT) across major histocompatibility complex barriers were studied in (NZB x NZW)F1 (B/W), BXSB, and MRL/Mr-lpr-lpr (MRL/lpr) mice with established autoimmune disease at the time of ABMT. In the BXSB or B/W mice, ABMT cured all aspects of autoimmune disease. Glomerular damage, revealed by ...

Connective tissue diseases such as systemic lupus erythematosus (SLE), rheumatoid arthritis, Sj�gren's syndrome, and scleroderma are systemic disorders that may have an autoimmune basis. The system manifestations vary, and there is frequent overlap among the syndromes. Liver involvement in patients with connective tissue diseases has been well documented but is generally ...

With multiple genome-wide association studies (GWAS) performed across autoimmune diseases, there is a great opportunity to study the homogeneity of genetic architectures across autoimmune disease. Previous approaches have been limited in the scope of their analysis and have failed to properly incorporate the direction of allele-specific disease ...

Background. Vitiligo is a common skin disorder characterized by macular depigmentation of the skin. The etiopathogenesis of the disease is still unclear, but there is evidence that autoimmunity and endocrine disfunction may be involved. Objective. The aim of this study was to determine whether vitiligo is statistically associated with thyroid autoimmunity. ...

Background. Vitiligo is a common skin disorder characterized by macular depigmentation of the skin. The etiopathogenesis of the disease is still unclear, but there is evidence that autoimmunity and endocrine disfunction may be involved. Objective. The aim of this study was to determine whether vitiligo is statistically associated with thyroid ...

Both myasthenia gravis (MG) and Guillain Barr� syndrome (GBS) are autoimmune diseases leading to muscle weakness, while the temporal coincidence of MG and GBS is rare. Here, we report a case of MG and GBS, as well as Hashimoto's thyroiditis, for the first time. All these diseases were relieved by immunomodulatory therapy, which suggested abnormal ...

Scleroderma is a fibrotic condition characterized by immunological abnormalities, vascular injury and increased accumulation of extracellular matrix proteins in the skin. Although the etiology of scleroderma has not yet been fully elucidated, a growing body of evidence suggests that extracellular matrix overproduction by activated fibroblasts results from complex interactions ...

Autoimmune pancreatitis is a unique form of chronic pancreatitis characterized by a high serum IgG4 concentration, and complications involving various extrapancreatic lesions. It should be emphasized that autoimmune pancreatitis is easily misdiagnosed as pancreatic cancer. This disease predominantly affects elderly men. The major symptom at onset is ...

DA and LEW inbred rats are extraordinarily susceptible to a wide range of experimental autoimmune diseases. These diseases include rheumatoid arthritis models such as collagen-induced arthritis (CIA) and adjuvant-induced arthritis (AIA), multiple sclerosis models such as myelin-basic-protein (MBP)-induced experimental autoimmune encephalomyelitis ...

Alopecia areata (AA) is a common form of localized, non-scarring hair loss. It is characterized by the loss of hair in patches, total loss of scalp hair (alopecia totalis), or total loss of body hair (alopecia universalis). The etiopathogenesis of the disease is still unclear, but there is evidence that autoimmunity and endocrine dysfunction may be involved. The aim of this ...

Molecular mimicry is a possible explanation for autoimmune side effects of microorganism infections. Protein sequences from a particular microorganism are compared to known autoimmune immunogens. For diseases such as multiple sclerosis (MS), where the infectious agent is unknown, guesses to its identity are made. Mimics are assumed to be rare. This study ...

The nicotinic acetylcholine receptor (AChR) is a large membrane protein found in muscle cells. It is involved in the transformation of acetylcholine packets into a membrane depolarization, which thereby leads to a muscle twitch. This large, complex molecule is the target of the autoimmune attack in myasthenia gravis, and much has been learned in the past decade about ...

Gene expression profiling in clinical genomics has yet to deliver robust and reliable approaches for developing diagnostics and contributing to personalized medicine. Owing to technological developments and the recent accumulation of expression profiles, it is a timely and relevant question whether peripheral blood gene expression ...

Autism spectrum disorder (ASD) is a spectrum of behavioral anomalies characterized by impaired social interaction and communication, often accompanied by repetitive and stereotyped behavior. The condition manifests within the first 3 years of life and persists into adulthood. There are numerous hypotheses regarding the etiology and pathology of ASD, including a suggested role for immune ...

Food allergies are an important medical problem in Westernized countries. Allergy to peanuts is a dramatic example of a food allergy that tends to be particularly severe and long-lived. This article examines food allergy-specifically peanut allergy-from the perspective that tolerance to foods is a normal state, just as tolerance to self-proteins is a normal state. From this vantage point, loss of ...

Ubiquitin ligases play an important role in the regulation of the immune system. Absence of Itch E3 ubiquitin ligase in mice has been shown to cause severe autoimmune disease. Using autozygosity mapping in a large Amish kindred, we identified a linkage region on chromosome 20 and selected candidate genes for screening. We describe, in ten patients, identification of a mutation ...

Ubiquitin ligases play an important role in the regulation of the immune system. Absence of Itch E3 ubiquitin ligase in mice has been shown to cause severe autoimmune disease. Using autozygosity mapping in a large Amish kindred, we identified a linkage region on chromosome 20 and selected candidate genes for screening. We describe, in ten patients, identification of a mutation ...

Ultra violet radiation (UVR) is an important feature for the development or aggravation of several dermatologic diseases. In autoimmune skin diseases it has been suggested as an important cofactor in autoimmune bullous skin diseases and more importantly cutaneous lupus erythematosus (CLE). The pathophysiological role of UVR in CLE is a result of several ...

The CD40-CD154 dyad is an intensely studied field as is glycosylation status and both impact immunological functions and autoimmune conditions. CD40 has several isoforms, is modified by glycosylation, and trimerizes to form the functional receptor. We described a CD4(+)CD40(+) T cell (Th40) subset which is expanded in autoimmunity and is necessary and ...

The CD40 � CD154 dyad is an intensely studied field as is glycosylation status and both impact immunological functions and autoimmune conditions. CD40 has several isoforms, is modified by glycosylation, and trimerizes to form the functional receptor. We described a CD4⁺CD40⁺ T cell (Th40) subset which is expanded in ...

ABSTRACT: INTRODUCTION: The objective of this study is to determine if multiple systemic autoimmune diseases (SAID) share gene expression pathways that could provide insights into pathogenic mechanisms common to these disorders. METHODS: RNA microarray analyses (Agilent Human 1A(V2) 20K oligo arrays) were used to quantify gene expression in peripheral blood cells from 20 ...

Infectious disease is frequently cited as a precursor of subsequent autoimmune disease in genetically susceptible hosts. However, the precise mechanisms required for the transition from infection to autoimmunity have not been well defined. We have developed a mouse model of autoimmune myocarditis initiated by infection with ...

The development of autoimmune diseases is frequently linked to exposure to environmental factors such as chemicals, drugs, or infections. In the experimental model of metal-induced autoimmunity, administration of subtoxic doses of mercury (a common environmental pollutant) to genetically susceptible mice induces an autoimmune syndrome ...

High-dose intravenous immunoglobulin (IVIg) is being increasingly utilized as an off-label therapy for a variety of autoimmune and inflammatory conditions across various specialties. Numerous reports have shown that it is an effective treatment for autoimmune skin blistering disorders. Unlike most therapies for blistering disorders, IVIg is not ...

The objective of this case study was to characterize autoreactivity in two patients with non-autoimmune forms of muscle disease who had positivity for antinuclear antibodies (ANA) and Ro (SSA) autoantibodies. Serum samples from these two patients were applied to an autoantigen protein array with more than 70 specificities and were compared to samples from healthy controls and ...

ABSTRACT: INTRODUCTION: Rheumatoid arthritis (RA) is a systemic autoimmune disease characterized by chronic synovitis that progresses to destruction of cartilage and bone. Bone marrow (BM) cells have been shown to contribute to this pathogenesis. In this study, we compared differentially expressed molecules in BM cells from RA and osteoarthritis (OA) patients and analyzed ...

Introduction: Autoimmune diseases are signified by complex errors of immune-regulation, and the development of autoreactive T and B cells targeting self-antigens, which eventually can lead to permanent organ damage. Despite novel therapeutic protocols, the disease course is chronic, debilitating and in some instances the outcome is lethal. Previously, stem cell transplantation ...

... SUPPLEMENTARY NOTES Report contains color ... factor in normal and abnormal human mammary glands ... by activation of PAR-1. Blood 97: 3109- ...

Anemia and other hematological abnormalities are common in patients with Sheehan's syndrome. The response of these abnormalities to replacement of thyroxine and glucocorticoids is not clear. The aim of the present study was to document the profile of hematological abnormalities and response to treatment in patients ...

A 10-year-old girl exhibited severe cerebellar ataxia following acute enterocolitis, and was diagnosed as having acute cerebellar ataxia (ACA). MRI of the brain in the acute stage revealed moderate swelling of the cerebellum and abnormal signal intensity enhanced with gadolinium in the cerebellar hemisphere. This is the first report of an ACA case with positive gadolinium ...

One of the most consistent biological findings in autism is elevated whole blood serotonin (5-HT) levels found in about 1/3 of cases. Immune abnormalities are also commonly observed in this disorder. Given 5-HT's role as an immunomodulator, possible connections between 5-HT and immune abnormalities in autism are explored in this review. Areas of focus ...

Following a high fever, a healthy woman became comatose within a few days. Severe cerebellar symptoms appeared when she regained consciousness. The brain MRIs revealed abnormal signal intensity of the cerebellar cortex and brainstem gray matter, however, no abnormalities were revealed in the cerebral hemispheres. Acute inflammation due to direct viral or ...

Primary biliary cirrhosis (PBC), primary sclerosing cholangitis (PSC) and autoimmune hepatitis (AIH) are the major forms of autoimmune liver diseases each characterized by the destruction of a specific liver cell type and the presence of differing auto-antibodies. We took a proteomic approach utilizing in situ matrix-assisted laser desorption/ionization ...