Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0409974 (lupus)
 22,386 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Autoimmune thyroid disease (AITD) is the most common organ specific autoimmune disorder usually resulting in dysfunction (hyperfunction, hypofunction or both) of the thyroid gland. The syndromes comprising autoimmune thyroid disease are many intimately related illnesses: Graves' disease with goitre, hyperthyroidism and, in many patients, associated ophthalmopathy, Hashimoto's thyroiditis with goitre and euthyroidism or hypothyroidism but also thyroid dysfunction occurring independently of pregnancy and in 5-6% of postpartum women and thyroiditides induced by different drugs and other environmental influences. The immunological mechanisms involved in these diseases are closely related, while the phenotypes probably differ because of the specific type of immunological response that occurs. The syndromes are connected together by their similar thyroid pathology, similar immune mechanisms, co-occurrence in family groups, and transition from one clinical picture to another within the same individual over time. In some patients, other organ specific and nonorgan specific autoimmune syndromes are associated with autoimmune thyroid disease, including pernicious anemia, vitiligo, myasthenia gravis, primary adrenal autoimmune disease, celiac disease, rheumatoid arthritis or lupus. Thyroid peroxydase, TPO, the primary enzyme involved in thyroid hormonogenesis, was initially identified in 1959 as the 'thyroid microsomal antigenn. It is uncertain whether TPO autoantibodies or TPO-specific T cells are the primary cause of thyroid inflammation, which can lead, in some individuals, to thyroid failure and hypothyroidism. TPOAbs are the hallmark of AITB and are present in almost all patients with Hashimoto's thyroiditis, in two-thirds of patients with postpartum thyroiditis and also in 75% of patients with Graves' hyperthyroidism. The antibodies are mainly produced by lymphocytic infiltrate in the thyroid gland and only to a small extent by regional lymph nodes or the bone marrow. Unlike antibodies against thyroglobulin (Tg), TPO antibodies are capable of inducing antibody-dependent cell-mediated cytotoxicity. Antibodies to TSH-R mimic the function of TSH, and cause disease by binding to the TSH-R and stimulating (or inhibiting) thyroid cells. The TSHR, a member of the G protein-coupled receptor family with seven membrane-spanning segments. Patients with autoimmune thyroid disease may have both stimulating and blocking antibodies in their sera, the clinical picture being the result of the relative potency of each species; blocking antibodies seem more common in Graves' patients with ophthalmopathy compared to those without this complication. The major T cell epitopes are heterogeneous and T cell reactivity against certain TSH-R epitopes has been present in high proportion in normal subjects. More diversified response to TSH-R, with heterogeneity of epitope recognition by TSAb, is predictive of likely remission after antithyroid drug treatment for Graves' disease.
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PMID:[Diagnosis of autoimmune thyroid disease]. 1640 53

We report a case of a 13-year old young girl, with Juvenile Systemic Lupus Erythematosus and recent onset of muscle weakness. Investigations lead to the diagnosis of Myasthenia Gravis. The most important causes of muscle weakness in lupus patients are discussed.
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PMID:[Systemic lupus erythematosus and weakness]. 1705 63

We describe a patient with the diagnoses of acquired neuromyotonia, cutaneous lupus erythematosus and alopecia areata, occurring many years after a thymectomy for myasthenia gravis associated with a thymoma. We review the current literature on autoimmune conditions associated with myasthenia gravis and thymectomy. To our knowledge, this combination of multiple autoimmune conditions has not been reported previously.
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PMID:Acquired generalised neuromyotonia, cutaneous lupus erythematosus and alopecia areata in a patient with myasthenia gravis. 1723 29

The immune system has evolved to protect the host from microbial infection; nevertheless, a breakdown in the immune system often results in infection, cancer, and autoimmune diseases. Multiple sclerosis, rheumatoid arthritis, type 1 diabetes, inflammatory bowel disease, myocarditis, thyroiditis, uveitis, systemic lupus erythromatosis, and myasthenia gravis are organ-specific autoimmune diseases that afflict more than 5% of the population worldwide. Although the etiology is not known and a cure is still wanting, the use of herbal and dietary supplements is on the rise in patients with autoimmune diseases, mainly because they are effective, inexpensive, and relatively safe. Curcumin is a polyphenolic compound isolated from the rhizome of the plant Curcuma longa that has traditionally been used for pain and wound-healing. Recent studies have shown that curcumin ameliorates multiple sclerosis, rheumatoid arthritis, psoriasis, and inflammatory bowel disease in human or animal models. Curcumin inhibits these autoimmune diseases by regulating inflammatory cytokines such as IL-1beta, IL-6, IL-12, TNF-alpha and IFN-gamma and associated JAK-STAT, AP-1, and NF-kappaB signaling pathways in immune cells. Although the beneficial effects of nutraceuticals are traditionally achieved through dietary consumption at low levels for long periods of time, the use of purified active compounds such as curcumin at higher doses for therapeutic purposes needs extreme caution. A precise understanding of effective dose, safe regiment, and mechanism of action is required for the use of curcumin in the treatment of human autoimmune diseases.
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PMID:Curcumin and autoimmune disease. 1756 23

This article focuses on the pathogenesis of the gender gap of autoimmune disease. Specifically, the discussion characterizes the role of sex hormones in the immune response and a female predilection for the common diseases seen in daily practice (ie, lupus erythematosus, myasthenia gravis, and other autoimmune diseases). A comparison between the sexes, with respect to autoimmune disease mechanisms, is presented to give oral and maxillofacial surgeons a better insight as to the role of sex and successful surgical treatment outcomes in this population of patients.
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PMID:Autoimmune disease and the female patient. 1808 74

Autoantibody-mediated diseases like myasthenia gravis, autoimmune hemolytic anemia and systemic lupus erythematosus represent a therapeutic challenge. In particular, long-lived plasma cells producing autoantibodies resist current therapeutic and experimental approaches. Recently, we showed that the sensitivity of myeloma cells toward proteasome inhibitors directly correlates with their immunoglobulin synthesis rates. Therefore, we hypothesized that normal plasma cells are also hypersensitive to proteasome inhibition owing to their extremely high amount of protein biosynthesis. Here we show that the proteasome inhibitor bortezomib, which is approved for the treatment of multiple myeloma, eliminates both short- and long-lived plasma cells by activation of the terminal unfolded protein response. Treatment with bortezomib depleted plasma cells producing antibodies to double-stranded DNA, eliminated autoantibody production, ameliorated glomerulonephritis and prolonged survival of two mouse strains with lupus-like disease, NZB/W F1 and MRL/lpr mice. Hence, the elimination of autoreactive plasma cells by proteasome inhibitors might represent a new treatment strategy for antibody-mediated diseases.
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PMID:The proteasome inhibitor bortezomib depletes plasma cells and protects mice with lupus-like disease from nephritis. 1854 49

More than half of maternal deaths in the UK are due to pre-existing medical conditions, and medical emergencies often mimic acute obstetric conditions. An acute flare of systemic lupus erythaematosus, a thyroid storm or a phaeochromocytoma have many of the signs and symptoms of imminent eclampsia. Similarly, severe postpartum haemorrhage can result in diagnostic difficulties of medical conditions such as Addison's syndrome or acute renal failure. An acute collapse can be due to a pulmonary embolus, myocardial infarction, tachyarrhythmia or myasthenia gravis. These conditions are rare; however, unless they are considered in a differential diagnosis, they will not be diagnosed, to the detriment of the woman and her infant. This chapter deals with acute medical conditions occurring uncommonly in pregnant women. An obstetrician should know the initial steps to take in the emergency management of these cases.
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PMID:Underlying medical conditions. 1867 94

Autoantibodies play a key role in diagnostic laboratories as markers of autoimmune diseases. In addition to their role as markers they mediate diverse effects in vivo. Autoantibodies with protective effect have been described. Natural protective IgM autoantibodies against tumour-antigens of malignant cells or their precursors may contribute to increased survival rates of carcinoma patients. In a mouse model of systemic lupus erythematosus it has been shown that anti-dsDNA IgM autoantibodies protect from glomerular damage. In contrast, a direct pathogenic role of autoantibodies has been well established e.g. in myasthenia gravis or in Goodpasture syndrome. Similarly autoantibodies against SSA Ro52 are detrimental in neonatal lupus erythematosus with congenital heart block. Moreover, putatively protective autoantibodies may become pathogenic during the course of the disease such as the onconeuronal autoantibodies whose pathogenicity depends on their compartmentalisation. In patients with paraneoplastic syndromes tumour cells express proteins that are also naturally present in the brain. Anti-tumour autoantibodies which temporarily suppress tumour growth can provoke an autoimmune attack on neurons once having crossed the blood-brain barrier and cause specific neurological symptoms. Only a restricted number of autoantibodies are useful follow-up markers for the effectiveness of treatment in autoimmune diseases. Certain autoantibodies hold prognostic value and appear years or even decades before the diagnosis of disease such as the antimitochondrial antibodies in primary biliary cirrhosis or anti-citrullinated protein (CCP)-antibodies in rheumatoid arthritis. It is crucial to know whether the autoantibodies in question recognise linear or conformational epitopes in order to choose the appropriate detection methods. Indirect immunofluorescence microscopy remains a very useful tool for confirmation of results of commercially available immunoassays and for detection of special and rare autoantibodies that otherwise often remain undetected. Standardisation of autoimmune diagnostics is still underway and requires joint efforts by laboratories, clinicians and industry.
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PMID:[Diagnostics of autoimmune diseases]. 1879 67

Forty-four female patients who met the following criteria were studied. All were referred for rheumatology consultation because of symptoms and a positive antinuclear antibody (ANA) to rule out lupus. None fulfilled the American College of Rheumatology (ACR) criteria for systemic lupus erythematosus (SLE) at the time of the initial visit. All had a normal or noncontributory complete blood count, urinalysis, and blood panel. They lacked antideoxyribonucleic acid, anti-Smith (anti-Sm), antiribonucleoprotein (anti-RNP), anti-Ro, anti-La, and antiscleroderma 70 (anti-Scl-70) antibodies, and none had rheumatoid factor, elevated creatine phosphokinase levels, or decreased C3 complement or C4 complement values. We performed additional tests or procedures in an effort to improve diagnostic accuracy. Nine of 44 (20%) had a negative ANA on retesting. All patients were tested for antiribosomal P, antineuronal, antihistone-(H2A-H2B)/deoxyribonucleic acid complex antibody, anti-smooth muscle antibody and antithyroid antibodies, as well as Westergren sedimentation rate. Anticardiolipin antibody, serum protein electrophoresis, bone scanning, or skin biopsies with or without lupus band testing were obtained as clinically indicated. At the 6-month follow-up, 19 patients (43%) fulfilled the ACR criteria for SLE, 14 (32%) fulfilled the ACR criteria for fibromyalgia only, 4 (9%) had seronegative rheumatoid arthritis, 1 (2%) had myasthenia gravis, and 6 (14%) remained undiagnosed; 18/19 diagnosed with SLE had an additional antibody or positive diagnostic test listed above versus 3/25 without SLE (p<0.0001). Additional laboratory and diagnostic testing beyond the routine ANA profile correlated with the evolving diagnosis in 86% of the patients at 6 months.
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PMID:The 'rule out lupus' rheumatology consultation: clinical outcomes and perspectives. 1907 69

Transient neonatal myasthenia gravis (TNMG) and neonatal lupus are rare conditions due to the transplacental passage of antibodies. We describe a unique case of TNMG, revealing a myasthenia gravis (MG) associated with systemic lupus erythematosus (SLE) in the mother. J. M., 8 days of age, was admitted for jaundice. Examination revealed poor sucking, facial weakness, and hypotonicity. TNMG was confirmed with a high level of antiacetylcholine receptor antibodies in the infant and his mother. No sign of neonatal lupus was observed. Clinical recovery was obtained. The elder brother had autism. In case of previous maternal MG, a low percentage of infants develop TNMG (10 to 20%), but monitoring is required at birth. Improvement is usually obtained within 3 weeks. No correlation has been found between maternal symptoms, antibodies titer, and signs of TNMG. Most cases of neonatal lupus are associated with positive anti-SSA/SSB antibodies in the mother. Both conditions, MG and SLE, are reported, but pregnancies are very few. Autism in the brother focuses on its relationship with immune diseases.
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PMID:Transient neonatal myasthenia gravis revealing a myasthenia gravis and a systemic lupus erythematosus in the mother: case report and review of the literature. 1948 58


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