Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004364 (autoimmune disease)
 24,845 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 35-year-old man suffered painful bilateral gynaecomastia for 2 months due to serious Graves' hyperthyroidism. During treatment with propylthiouracil and levothyroxine, the plasma concentrations of thyroid hormone, sex hormones and sex hormone-binding globulin normalised and the gynaecomastia disappeared. Gynaecomastia occurs in 30 to 40% of men diagnosed with Graves' hyperthyroidism. However, gynaecomastia as a presenting symptom of this autoimmune disease is uncommon.
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PMID:[A 35-year-old man with gynaecomastia as the first symptom of hyperthyroidism]. 1185 Oct 85

The active form of vitamin D, 1,25-Dihydroxyvitamin D3 [l,25(OH)2D3], is a secosteroid hormone that binds to the vitamin D receptor (VDR), a member of the superfamily of nuclear receptors for steroid hormones, thyroid hormone, and retinoic acid. VDR ligands regulate calcium and bone metabolism, control cell proliferation and differentiation, and exert immunoregulatory activities. The immunoregulatory properties of VDR ligands are currently exploited clinically for the topical treatment of psoriasis, a Th1 cell-mediated autoimmune disease of the skin, but recent advances in understanding their functions and novel insights into the immunomodulatory mechanisms they control suggest a wider applicability in the treatment of autoimmune diseases. In addition to direct effects on T cell activation, VDR ligands modulate with different mechanisms the phenotype and function of antigen-presenting cells (APCs), and, in particular, of dendritic cells (DCs). In vitro and in vivo experiments have shown that VDR ligands induce DCs to acquire tolerogenic properties that favor the induction of regulatory rather than effector T cells. These intriguing actions of VDR ligands have been demonstrated in several experimental models and could be exploited, in principle, to treat a variety of human autoimmune diseases.
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PMID:Immunomodulatory effects of vitamin D receptor ligands in autoimmune diseases. 1218 26

The autoimmune thyroid diseases, Graves' disease and autoimmune hypothyroidism, represent the two ends of a disease spectrum where an immune response is directed against the thyroid gland. In Graves' disease, antibodies directed against the thyrotropin receptor (TSH-R) lead to the development of glandular overactivity, while in autoimmune hypothyroidism, cell-mediated and humoral thyroid injury leads to destruction of thyroid tissue and thyroid hormone deficiency. The mechanisms by which these diseases develop are unknown, although it is likely that both diseases occur in genetically susceptible individuals exposed to a permissive environment. A number of environmental factors have been postulated to be involved in the development of autoimmune thyroid disease. There is, however, no direct evidence to support clear causality. Susceptibility loci within immune response genes have been identified although a significant component of the genetic predisposition to disease remains unknown. This review will focus on some of the studies designed to identify genes that confer susceptibility to the autoimmune disease process within the thyroid gland.
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PMID:Autoimmunity in thyroid disease. 1219 41

Thyroid hormones have been shown to be absolutely necessary for early brain development. During pregnancy, both maternal and foetal thyroid hormones contribute to foetal brain development and maternal supply explains why most of the athyreotic newborns usually do not show any signs of hypothyroidism at birth. Foetal and/or neonatal hypothyroidism is a rare disorder. Its incidence, as indicated by neonatal screening, is about 1:4000. Abnormal thyroid development (i.e. agenesia, ectopic gland, hypoplasia) or inborn errors in thyroid hormone biosynthesis are the most common causes of permanent congenital hypothyroidism. Recent studies reported that mutations involving Thyroid Transcriptor Factors (TTF) such as TTF-1, TTF-2, PAX-8 play an important role in altered foetal thyroid development. Deficiency of transcriptor factor (Pit-1, Prop-1, LHX-3) both in mother and in the foetus represents another rare cause of foetal hypothyroidism. At birth clinical picture may be not always so obvious and typical signs appear only after several weeks but a delayed diagnosis could have severe consequences consisting of delayed physical and mental development. Even if substitutive therapy is promptly started some learning difficulties might still arise suggesting that intrauterine adequate levels of thyroid hormones are absolutely necessary for a normal neurological development. Placental transfer of maternal antithyroid antibodies inhibiting fetal thyroid function can cause transient hypothyroidism at birth. If the mother with thyroid autoimmune disease is also hypothyroid during pregnancy and she doesn't receive substitutive therapy, a worse neurological outcome may be expected for her foetus. Foetal and/or neonatal hyperthyroidism is a rare condition and its incidence has been estimated around 1:4000-40000, according to various authors. The most common causes are maternal thyroid autoimmune disorders, such as Graves' disease and Hashimoto's thyroiditis. Rarer non autoimmune causes recently identified are represented by TSH receptor mutations leading to constitutively activated TSH receptor. Infants born to mothers with Graves' history may develop neonatal thyrotoxicosis. Foetal/neonatal disease is due to transplacental thyrotrophin receptor stimulating antibodies (TRAb) passage. It's extremely important recognizing and treating Graves' disease in mothers as soon as possible, because a thyrotoxic state may have adverse effects on the outcome of pregnancy and both on the foetus and newborn. Thyrotoxic foetuses may develop goitre, tachycardia, hydrops associated with heart failure, growth retardation, craniosynostosis, increased foetal motility and accelerated bone maturation. Neonatal Graves' disease tends to resolve spontaneously within 3-12 weeks as maternal thyroid stimulating immunoglobulins are cleared from the circulation but subsequent development may be impaired by perceptual motor difficulties. Hashimoto's thyroiditis is a very common autoimmune thyroid disease. In presence of maternal Hashimoto's thyroiditis, there are usually no consequences on foetal thyroid, even if antiTPO and antiTg antibodies can be found in the newborn due to transplacental passage. However there are some literature reports describing foetal and neonatal hyperthyroidism in the affected mothers' offspring.
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PMID:Foetal and neonatal thyroid disorders. 1224 77

Postpartum thyroiditis (PPT) is the occurrence, in the postpartum period, of transient hyperthyroidism and/or transient hypothyroidism, with most women returning to the euthyroid state by 1 year postpartum. The prevalence of PPT varies from 1.1 to 16.7%, with a mean prevalence of 7.5%. Women with type I diabetes mellitus have a three-fold increase in the prevalence of PPT. PPT is an autoimmune disorder which is a transient form of Hashimoto's thyroiditis occurring postpartum as a consequence of the immunologic flare following the immune suppression of pregnancy. Women experience symptoms in both the hyperthyroid and hypothyroid phase, but the association between PPT and postpartum depression remains undefined. Approximately 25% of women with a history of PPT will develop permanent hypothyroidism in the ensuing 10 years. Treatment for the hyperthyroid phase, when required, is a short dose of beta-blockers. Women with a TSH greater than 10 mU/l, or between 4 and 10 mU/l with symptoms or attempting pregnancy, require thyroid hormone replacement. Whether or not to screen for PPT remains controversial.
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PMID:Postpartum thyroiditis. 1515 42

The syndrome of resistance to thyroid hormone (RTH) is characterized by impaired tissue responses to thyroid hormone. Hashimoto's thyroiditis is the most common thyroid autoimmune disease. We present a Turkish family with both RTH and Hashimoto's thyroiditis. RTH was detected through the presence of point mutation in thyroid hormone receptor (TR), and Hashimoto's thyroiditis was diagnosed due to the presence of thyroid autoantibodies. The proposita, her affected mother as well as her unaffected sister have thyroid autoantibodies consistent with Hashimoto's thyroiditis, and a heterozygous point mutation in exon 10 encoding the ligand (3,3',5-L-T3)-binding domain of the TRbeta gene was detected in both the proposita and the mother. The mutation is a replacement of cytosine for guanine in codon 453 (CCT->GCT) producing a missense mutation substituting a normal proline with an alanine (P453A), which reduces the affinity for T3 to 17% of that of the normal TRbeta. Both also have modest elevation of serum TSH levels. In severe RTH, marked elevation of thyroid hormone concentrations in the absence of suppressed TSH supports the laboratory diagnosis of RTH. However, when RTH is mild and associated with thyroiditis, even a modest thyroid gland insufficiency can obliterate the serum T4 and T3 elevations, typical of RTH. This will manifest as elevated serum TSH. Demonstration of TRbeta gene mutation is then necessary to establish the diagnosis. In addition, under these circumstances, treatment with thyroid hormone should be considered.
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PMID:Resistance to thyroid hormone associated with autoimmune thyroid disease in a Turkish family. 1596 14

The thyroid gland is afflicted in several endocrine, autoimmune, and malignant diseases. Previous studies detected immunoreactivity against proteins of a human intracisternal A-type retroviral particle type-I (HIAP-I) in serum samples from the majority of patients with Graves' disease, an autoimmune disease of the thyroid that can also affect other organs, most prominently the eyes. To determine whether hyperthyroid animals might provide a model for the retroviral involvement in thyroid autoimmunity, serum samples from 32 cats (21 hyperthyroid and 11 controls) and 10 hypothyroid dogs were examined for immunoreactivity with HIAP-I using a Western blot technique. Of the 21 hyperthyroid cats 15 (71.4%) were HIAP-I positive, while only 2 of 11 (11.8%) control animals without endocrine pathology were positive. No significant correlations were seen between HIAP seroreactivity and serum thyroid hormone levels (T3 and T4), age, gender, treatment history, vaccination status, or weight. No seroreactivity to HIAP-I was detected in hypothyroid dogs. An examination of HIAP-I reactivity in feline leukemia virus (FeLV)-seroconverting cats found that 7/9 (78%) animals viremic for FeLV-A showed an alteration in HIAP serology, whereas only 1/7 (14%) nonviremic animals showed a change in HIAP-I serology. These results suggest that it may be possible to develop an animal (feline) model for the role of retroviruses in thyroid autoimmune diseases.
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PMID:Seroreactivity to A-type retrovirus proteins in a subset of cats with hyperthyroidism. 1627 11

Chronic thyroiditis (Hashimoto's disease) is a slowly developing persistent inflamation of the thyroid gland, which frequently leads to hypothyroidism. Some of the up-to-date knowledge about hypothyroidism, both subclinical and manifested, caused by autoimmune disease, was presented. Autoimmune thyroid gland disease can occur at any age, but predominantly affects women after periods of high emotional and physical stress or accidents, as well as during periods of hormonal changes. It can also develop in families, and having an autoimmune disease slightly increases the risk of developing another. This paper showed an increasing incidence of subclinical hypothyroidism (4.17%) in elderly, and, at the same time, the incidence of primary hypothyroidism accounting for 1%. It is very usefull to estimate the stimulated thyrotropin (TSH) response, as well as the value of fast, short time thyroid gland reserves, analyzed by T3 and T4 serum level at 60th minute after TRH stimulation. Treatment of choice for HT (hypothyroidism of any cause) is thyroid hormone replacement. Drug of choice is orally administered levothyroxine sodium, usually for life-time. The standard dose is 1.6-1.8 mcg/kg body weight per day, but is in most cases patient dependent. Elderly patients usually require smaller replacement dose of levothyroxine, sometimes less than 1 mcg/kg body weight per day with coronary dilatator at the same time.
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PMID:[Subclinical and manifested hypothyroidism as a consequence of thyroid autoimmune disease]. 1640 54

Experimental autoimmune encephalomyelitis (EAE) is a T-cell-mediated, autoimmune disorder characterized by central nervous system inflammation and demyelination, features reminiscent of the human disease, multiple sclerosis (MS). Prior work in the EAE model has suggested that encephalitogenic T cells are of the T helper (Th)-1 phenotype. Our group has performed several studies in the EAE model that suggest that a strategy for treating autoimmune disorders is to convert the pathogenic cells from the Th1 to Th2 phenotype. Peroxisome proliferator-activated receptors (PPARs) are members of a nuclear hormone receptor superfamily that include receptors for steroids, retinoids, and thyroid hormone, all of which are known to affect the immune response. Recently, we examined the role of PPARgamma in EAE and observed that administration of the PPARgamma agonist 15-deoxy-Delta(12,14) prostaglandin J2 exerted a significant therapeutic effect predominantly by inhibiting the activation and expansion of encephalitogenic T cells. One potential advantage in studying PPARalpha agonists is that they have been very well tolerated when used in humans to treat conditions such as elevated triglycerides. Building on prior work in immune deviation and with PPAR agonists, we have demonstrated that PPARalpha agonists can alter the cytokine phenotype of myelin-reactive T cells, alter their encephalitogenicity, and be useful in the treatment of EAE. The fact that PPARalpha agonists have been used as therapeutic agents in humans to treat metabolic conditions for over 25 years with little toxicity makes them attractive candidates for use as adjunctive therapies in MS.
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PMID:Nuclear receptors and autoimmune disease: the potential of PPAR agonists to treat multiple sclerosis. 1648 46

Chronic urticaria (CU) is a relatively common but vexing disease. The pathophysiology is based on the cutaneous mast cell release of mediators, predominantly histamine. Release can be induced via specific immunoglobulin E (IgE), components of complement activation and nonspecifically by various compounds including endogenous peptides, endorphins, and enkephalins. In >30% of CU patients, autoimmune phenomena have been found, characterized by positive autologous serum skin test, antibodies to the alpha-subunit of the basophil IgE receptor, to IgE itself, and, perhaps, the most clinically relevant, thyroid autoimmunity. Studies suggest that the products of the activated immune system can lower the cutaneous mast cell release threshold, possibly allowing activation by endogenous compounds. The resulting release of mediators produces the clinical picture of recurrent hives. Although the goal of management of CU is the identification of a treatable cause, in most CU patients, especially adults, a cause is not frequently found. Identified causes include drugs, foods, infections, immune complex production leading to urticarial vasculitis, autoantibody production, and underlying autoimmune disease, particularly autoimmune thyroiditis. The treatment of the thyroiditis with suppressive doses of thyroid hormone often results in the remission of the CU. Given the marginally effective and sometimes dangerous medical therapy available for CU, a systematic and thorough approach to identify a treatable cause in difficult CU patients is warranted.
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PMID:Chronic urticaria: pathophysiology and etiology, or the what and why. 1672 23


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