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Results for “autoimmune disorders”

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At least 19 recordsLinked to original sources
PubMed1978

Thyroid-stimulating antibodies in patients with autoimmune disorders.

A radioreceptor assay was used to measure thyroid-stimulating antibody (TSAb) in 1) patients with Graves' disease with untreated hyperthyroidism, selected for absence of clinically significant eye disease; 2) patients with Graves' ophthalmopathy, with and without previously treated hyperthyroidism; 3) patients with other thyroid disorders; 4) patients with other autoimmune disorders; and 5) normal subjects. TSAb was detected in 14 of 15 (93%) patients with Graves' hyperthyroidism and in 10 of 16 (63%) patients with Graves' ophthalmopathy. Of the patients with Graves' ophthalmopathy, TSAb was detected in 9 of 10 patients who had once been hyperthyroid and in only 1 of 6 patients who had never been hyperthyroid (euthyroid Graves' disease). TSAb was detected in 1 patient with idiopathic Addison's disease (autoimmune adrenalitis) and in 1 patient with juvenile diabetes mellitus (both of whom were euthyroid), and borderline levels were found in 1 patient with Sjögren's syndrome and 1 patient with methyldopa-induced antired blood cell antibodies. TSAb was not detected in normal subjects or patients with other thyroid disorders. The conclusions are: 1) the test is very useful in the diagnosis of Graves' disease; 2) Graves' eye disease may be a frequently associated but separate disorder; and 3) because TSAb may be present in some euthyroid patients with other autoimmune disorders, TSAb production may occur primarily because of a disorder in the immune system.

Adolescent↗
PubMed1979

Autoimmune disorders complicating adolescent Hodgkin's disease.

Four adolescents with Hodgkin's disease also developed autoimmune diseases. There were two idiopathic thrombocytopenic purpura (ITP), one polymyositis, and one scleroderma. The first two patients developed ITP in the absence of a spleen, and with their Hodgkin's disease in remission. The first patient with Hodgkin's disease has been continuously free of cancer for over five years. The second patient was a 17-year-old male whoe Hodgkin's disease recurred, but whose disease was in remission at the time the ITP occurred. The polymyositis occurred in an 18-year-old youth when he was in his initial remission for his Hodgkin's disease, but his disease subsequently recurred two years later. This youth presented with Coombs positive autoimmune hemolytic anemia. The polymyositis did not respond to therapy, and he is left with severe muscle wasting and weakness; however, the polymyositis is now quiescent. The scleroderma occurred in an 18-year-old female who had been continuously free of Hodgkin's disease for eight years. The scleroderma did not respond to drug therapy and she now has moderate skin changes, but remains in continuous remission of her Hodgkin's disease. Although there are a few reports of Hodgkin's disease and concurrent autoimmune disorders, physicians dealing with cancer in adolescents should be aware of this association.

Adolescent↗
PubMed2025

Genetic pleiotropy underlying obesity and autoimmune disorders: a large-scale cross-trait gwas analysis in European ancestry populations.

BACKGROUND: Obesity and autoimmune disorders represent a significant comorbidity burden, yet their shared genetic architecture is not fully understood. Elucidating the pleiotropic genetic basis underlying both conditions is crucial for unraveling the mechanisms driving their co-occurrence and advancing therapeutic strategies. METHODS: We conducted a large-scale cross-trait analysis integrating genome-wide association study (GWAS) summary data for obesity and 17 autoimmune diseases. Genetic correlations were assessed using LD score regression and high-definition likelihood. Cross-trait pleiotropic analysis was performed using Stratified Pleiotropic Locus Mapping (PLACO) to identify shared loci, followed by Bayesian colocalization to confirm shared causal variants. Gene-level and tissue-specific heritability analyses were conducted, and drug targets were prioritized via summary-based Mendelian randomization (SMR). Finally, immune co-localization and bidirectional Mendelian randomization were employed to elucidate immunological mechanisms and causal relationships. RESULTS: Our analysis identified eight autoimmune diseases with significant genetic correlations to obesity. We discovered 10,324 pleiotropic SNPs, which mapped to 52 independent risk loci, with nine loci confirmed as shared causal variants by colocalization. Gene-level analysis revealed 133 unique pleiotropic genes, including CLN3, SH2B1, and MMEL1, enriched in pathways of hematopoietic cell differentiation and immune homeostasis. Tissue-specific heritability was most prominent in the spleen, whole blood, and EBV-transformed lymphocytes. Immuno-co-localization implicated six IgD+ CD38- %B cell-related traits as key pathological conduits. Bidirectional Mendelian randomization established a causal role of obesity in hypothyroidism, psoriasis, and multiple sclerosis, while revealing an inverse causal association of type 1 diabetes with obesity risk. CONCLUSIONS: This study demonstrates a robust shared genetic foundation between obesity and multiple autoimmune diseases, pinpointing specific pleiotropic loci, genes, and immune cell subsets. Our findings provide a mechanistic framework for their comorbidity and highlight potential targets for therapeutic intervention.

Humans↗
PubMed1976

Structure and biological functions of human IgD. VII. IgD antinuclear antibodies in sera of patients with autoimmune disorders.

Indirect immunofluorescent tests were employed to study antinuclear antibodies (ANA) of the IgD class in sera from patients with autoimmune disease. In sera containing IgG-ANA, IgD-ANA was detected in 48% of patients with systemic lupus erythematosus, 37% with rheumatoid arthritis, 30% with Raynaud's disease, 23% with systemic scleroderma and 20% with discoid lupus erythematosus. Quantitative comparison of serum IgG, IgA, IgM and IgD between IgG-ANA-positive sera with and without IgD-ANA revealed that patients with IgD-ANA also had elevated serum IgA levels. The detection of IgD-ANA in over 36% of the patient population suggests that IgD may play a role in autoimmune disorders.

Antibodies, Antinuclear↗
PubMedDate not supplied

[A chronological study of thymic crystalline inclusions and autoimmune disorders in Swan and NZB mice (author's transl)].

Swan and NZB mice represent good animal model for human systemic erythematosus with autoimmune phenomena (antinuclear antibodies, deposits of immunoglobulins in kidney and skin). The level of circulating thymic factor, responsible for T lymphocyte differenciation, falls during the first month of life in NZB mice, during the third month in Swan mice, during the sixth month in control mice (Swiss). In Swan mice, cytoplasmic crystalline inclusions have been found within the epithelial cells which are said to have a thymosine-like activity. The time-sequence of the appearance of the crystalline inclusions has been studied in relation to the development of autoimmune disorders (antinuclear antibodies, immunoglobulins in tissues). In each group of mice, the drop in circulating thymic factor appears before the appearance of crystalline inclusions and of autoimmunisation. Therefore, these crystals appear to represent a store of circulating thymosine-like factor or of a precursor in an ageing thymus.

Animals↗
PubMed1977

High incidence of horse serum protein allergy in various autoimmune disorders.

In 186 persons (68 patients suffering from different so-called autoimmune diseases, 30 kidney recipients, 38 control patients from a surgical ward, and 50 healthy volunteers) the immune response to horse IgG was examined. The lowest rate of sensitization was found in kidney transplant recipients (3%) and the highest in autoimmune patients (33%). After excluding 39 patient who had received horse serum treatment prior to the examination, it was found that without previous injection of horse serum, 27% of the patients with autoimmune disease were sensitized to horse IgG. Compared to the other groups (kidney transplant recipients, 4%: surgical controls, 0%; healthy volunteers, 3%), this difference was statistically significant (p is less than 0.01).

Allergens↗
PubMed1977

Annular erythemas in infants associated with autoimmune disorders in their mothers. Report on three cases.

Three infant boys with a centrifugal annular erythema mainly consistent with erythema annulare centrifugum, developing a few weeks after birth, are described. The lesions disappeared before the age of 6 months, without atrophy, and during this period the infants were otherwise healthy. This group is considered to belong to one of three types of reactivity in infants associated with or expressed as a connective tissue disease, especially lupus erythematosus, in the mother and child or in either. In type 1, signs and symptoms of systemic lupus erythematosus are or will be present in the mother and the child displays discoid lupus erythematosus lesions at birth or soon after. In type 2, the mother has the same signs and symptoms as in type 1 but the child develops a centrifugal annular erythema 3-6 weeks after birth. In type 3, discoid lupus erythematosus is present at an early stage in the infant, while the mother is healthy. This type may represent an early onset of lupus erythematosus in the infants.

Adult↗
PubMed2023

Water a major source of endocrine-disrupting chemicals: An overview on the occurrence, implications on human health and bioremediation strategies.

Endocrine disrupting chemicals (EDCs) are toxic compounds that occur naturally or are the output of anthropogenic activities that negatively impact both humans and wildlife. A number of diseases are associated with these disruptors, including reproductive disorders, cardiovascular disorders, kidney disease, neurological disorders, autoimmune disorders, and cancer. Due to their integral role in pharmaceuticals and cosmetics, packaging companies, agro-industries, pesticides, and plasticizers, the scientific awareness on natural and artificial EDCs are increasing. As these xenobiotic compounds tend to bioaccumulate in body tissues and may also persist longer in the environment, the concentrations of these organic compounds may increase far from their original point of concentrations. Water remains as the major sources of how humans and animals are exposed to EDCs. However, these toxic compounds cannot be completely biodegraded nor bioremediated from the aqueous medium with conventional treatment strategies thereby requiring much more efficient strategies to combat EDC contamination. Recently, genetically engineered microorganism, genome editing, and the knowledge of protein and metabolic engineering has revolutionized the field of bioremediation thereby helping to breakdown EDCs effectively. This review shed lights on understanding the importance of aquatic mediums as a source of EDCs exposure. Furthermore, the review sheds light on the consequences of these EDCs on human health as well as highlights the importance of different remediation and bioremediation approaches. Particular attention is paid to the recent trends and perspectives in order to attain sustainable approaches to the bioremediation of EDCs. Additionally, rigorous restrictions to preclude the discharge of estrogenic chemicals into the environment should be followed in efforts to combat EDC pollution.

Animals↗
PubMedDate not supplied

Calculation of disease susceptibility gene frequency in insulin-dependent diabetes mellitus.

An analysis of HLA-linked genetical factors conferring susceptibility to IDDM is reported. On the basis of population and family studies a recessive mode of inheritance of disease susceptibility provided by an assumption of HLA-B8-linked DS gene was observed. The characteristic component of the immunogenetical background was the high frequency of HLA-B8 (0.208) and the HLA-A1, B8 haplotype (0.134) (linkage disequilibrium D = 0.1031), reminiscent of that found also in other disorders with autoimmune features, such as Graves disease, SLE, etc. Considering the HLA-B8 and IDDM association, the DS gene frequency (pD = 0.25) was estimated and the gametic association between HLA-B8 andu DS gene was calculated. The low value of penetrancy (4.8%) revealed the important role of non-HLA-linked genetical and environmental factors. The HLA-linked genetic factors in question might be responsible for an inclination to several kinds of autoimmune disorders.

Adolescent↗
PubMed1979

Myasthenia gravis: pathogenesis, diagnosis, and therapy.

Myasthenia gravis most commonly affects the ocular muscles. Abnormal fatigability of the involved muscle groups is the most remarkable feature of the physical examination. Recent studies have demonstrated that a thymus-derived antibody plays a role in the pathogenesis of myasthenia gravis, which is now thought to be an autoimmune disorder. Its association with other autoimmune disorders has been recognized for some time. A high index of suspicion is the most essential element in diagnosis. Rapid and reproducible response to administration of anticholinesterase leaves little doubt of the diagnosis, but characteristic EMG findings in myasthenic muscle evoked by repetitive stimulation of peripheral motor nerve are definitive. Anticholinesterase drugs are the mainstay of therapy. Thymectomy is indicated in patients with thymoma and in some young persons with serious disease. Patients who respond poorly to anticholinesterase therapy or surgery are candidates for steroid therapy.

Adult↗
PubMed1979

The role of the spleen in "autoimmune" blood disorders.

Several immune-mediated blood disorders in both children and adults have findings compatible with an autoimmune etiology, although the autoantigen in most instances is not clearly established. In the present report, we review briefly the clinical features of immune hemolytic anemia, immune thrombocytopenic purpura, and immune neutropenia in children and discuss the possible pathogenetic mechanisms based on present experimental and clinical observations. The role of the spleen in the pathophysiology of these disorders is emphasized.

Acute Disease↗
PubMed2026

Cushing's disease and autoimmune thyroid disorders in women: Impacts on fertility, pregnancy, and menopause.

Cushing's disease (CD) and autoimmune thyroid diseases (AITDs) are two distinct but interconnected endocrinopathies affecting predominantly women. A primary cause of CD is excess adrenocorticotropic hormone (ACTH) secretion, which leads to hypercortisolism and profound hormonal and immune changes. As with AITDs, Hashimoto's thyroiditis and Graves' disease are caused by a loss of immune tolerance and frequently coexist with female reproductive dysfunction. Emerging evidence suggests that chronic hypercortisolism in CD suppresses immunity as well as alters hypothalamic-pituitary-thyroid (HPT) axis activity, which may mask or exacerbate thyroid autoimmunity after disease remission. Coexisting CD and AITD has significant effects on women's reproductive health, pregnancy outcomes, and menopausal transitions, as thyroid and adrenal hormones play a crucial role in regulating ovulatory cycles, placental development, bone formation, and cardiovascular health. In this review, shared pathophysiological pathways are explored, clinical and therapeutic challenges are highlighted, and integrated management strategies are discussed. To improve early diagnosis, tailor treatment approaches, and guide future endocrine research, it is essential to understand the compounded risks of dual endocrinopathy.

Humans↗
PubMed2026

Retinopathy caused by a primary immune regulatory disorder - the spectrum of AIRE-associated retinopathy: case series and literature review.

BACKGROUND/OBJECTIVE: Retinal involvement in autoimmune polyendocrine syndrome type 1 (APS1), a rare monogenic autoimmune disorder caused by mutations in the AIRE gene, is increasingly recognised but remains poorly defined. Prior reports suggest a variable phenotype, ranging from mild changes to severe vision loss, often presumed untreatable. We explored the range of retinal phenotypes associated with AIRE gene deficiency in a multicentre case series of patients with APS1. METHODS: We performed a retrospective case note review of patients with molecularly confirmed APS1 from tertiary ophthalmic centres. Clinical history, multimodal retinal imaging, electrophysiology, genetic data, and treatment regimens were analysed. Histopathology was available in one case postmortem. RESULTS: Records were reviewed from five unrelated female patients. Median age was 14 years at onset of ocular involvement and 33 years at most recent follow up. Some findings from two cases have been previously reported. Three distinct pathogenic AIRE variants contributing to biallelic genotypes were observed. Retinal findings ranged from structurally and functionally normal to advanced degeneration. One patient demonstrated sharp zonal atrophy on histopathology. Inflammatory features predominated in two cases, both showing durable vision preservation with periocular or systemic immunomodulation. One patient demonstrated four years of disease stabilisation with rituximab. No consistent genotype-phenotype correlation emerged. CONCLUSION: AIRE-associated retinopathy encompasses a diverse spectrum, from clinically silent to profound degeneration. Early, targeted immunomodulation might preserve vision in selected cases. These findings advocate for ophthalmic surveillance in APS1, and support further investigation into predictive biomarkers and possible tailored immunotherapy in this vision-threatening autoimmune disorder.

Humans↗