Is Graves' disease a primary immunodeficiency? New immunological perspectives on an endocrine disease.

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Annotation Summary

Term Occurence Count Dictionary
diabetes mellitus 3 endocrinologydiseases
hypoparathyroidism 1 endocrinologydiseases
thyroiditis 3 endocrinologydiseases
autoimmune polyendocrine syndrome 1 endocrinologydiseases
autoimmune polyendocrine syndrome type 1 1 endocrinologydiseases
autoimmune thyroiditis 2 endocrinologydiseases
hyperglycemia 1 endocrinologydiseases
hyperthyroidism 9 endocrinologydiseases
thyroglobulin 2 endocrinologydiseasesdrugs
thyrotoxicosis 3 endocrinologydiseases
type 1 diabetes mellitus 3 endocrinologydiseases

Graph of close proximity drug and disease terms (within 200 characters).

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Select Drug Character Offset Drug Term Instance
thyroglobulin 11426 leukocyte antigen, IL interleukin, IFN interferon, OPN osteopontin, PTPN protein tyrosine phosphatase, TG thyroglobulin , TPO thyroperoxidase, TRAb thyrotropin related antibodies, TSH-R thyroid-stimulating hormone receptorFig.
thyroglobulin 19926 receptors and autoantigens may further multiply the possibilities. This is supported by the fact that the thyroglobulin (TG) gene itself contains GD-susceptible polymorphisms [[55], [56]]; only certain TG peptides can bind
Select Disease Character Offset Disease Term Instance
autoimmune polyendocrine syndrome 47576 relationship has been repeatedly established in monogenetic diseases as IPEX (FOXP3 mutations) and in autoimmune polyendocrine syndrome type 1 (AIRE mutations). Moreover, polygenetic AIDs such as CVID or IgA-deficiency also exhibit multiple
autoimmune polyendocrine syndrome type 1 47576 relationship has been repeatedly established in monogenetic diseases as IPEX (FOXP3 mutations) and in autoimmune polyendocrine syndrome type 1 (AIRE mutations). Moreover, polygenetic AIDs such as CVID or IgA-deficiency also exhibit multiple autoimmune
autoimmune thyroiditis 18465 calcifications in the central nervous system. A recent analysis of autoimmunity in these patients also described autoimmune thyroiditis in a boy with a genetically proven monogenic interferonopathy [[50]].In this respect, it is very interesting
autoimmune thyroiditis 20881 thus to impaired negative selection of autoimmune T cells in the thymus. Nine patients with familial autoimmune thyroiditis with deficiencies in CD3γ have been identified to date [[59]]. These patients also have susceptibility
diabetes mellitus 2974 typesProtein/SynapseGeneMechanismAssociation with Graves’ diseaseReferenceSelective IgA deficiencyCeliac disease, type 1 diabetes mellitus , impaired mucosal defense, most common PIDB cellsGranulocytesLigation with its receptor (FcαRI) leads
diabetes mellitus 7671 purpura, MFG-E8 Milk fat globule epidermal growth factor 8, PID primary immunodeficiency, T1DM type 1 diabetes mellitus , TR thyrotropin relatedMain textLiterature search and inclusion criteriaRelevant studies were identified
diabetes mellitus 32363 and airways. Of note, considerable numbers of subjects develop AIDs such as celiac disease, type 1 diabetes mellitus , SLE, and GD [[95]]. Selective IgA deficiency is not due to mutations in the gene encoding for IgA,
hyperglycemia 30820 by pro-inflammatory events or cytokines (i.e., angiotensin II, TGF-β, TNF-α, IL-1b, nitric oxide, hyperglycemia , and hypoxia) [[90]]. It exerts its effects via the NF-κB pathway and consecutive production of IFN-γ
hyperthyroidism 8465 associated with Graves’ disease (GD)In iodine-sufficient areas, GD is the most common cause of primary hyperthyroidism in the younger population [[2]]. It is an autoimmune disorder characterized by the presence of thyrotropin-related
hyperthyroidism 23732 manifesting as eczema, enteropathy, and autoimmune endocrinopathy, which may include both hypo- and hyperthyroidism [[65]].As outlined earlier, patients with trisomy 21 do not only have an increased incidence of GD,
hyperthyroidism 25461 melanoma-specific T cells [[72]]. However, therapeutic use of ipilimumab has been shown to induce autoimmune hyperthyroidism [[73]]. The programmed cell death protein 1 has similar functions as CTLA-4 and its blockade also causes
hyperthyroidism 27290 patients with GD.Increased IFN levelsAlthough it has been known since 1962 that TRAb have a causal role in hyperthyroidism , it took almost another 30 years until the precise nature of their involvement was further elucidated
hyperthyroidism 28253 lymph nodes [[83], [84]]. Furthermore, it has been shown that TRAb-negative patients have less severe hyperthyroidism and fewer of them subsequently develop Graves’ orbitopathy [[83]].Based on these facts, GD has long
hyperthyroidism 33801 [[102]]. In a mouse model of GD, administration of a scavenging BAFF antibody led to amelioration of hyperthyroidism and reduction of TRAb levels in the blood, whereas plasma cell counts in the spleen were unchanged [[103]].
hyperthyroidism 41141 introduced by therapy, or that other co-variables, such as smoking, also play a role. Additionally, hyperthyroidism itself may be inducing epigenetic changes. Nevertheless, we are not aware of any longitudinal reports
hyperthyroidism 43618 contradict this hypothesis. First, in vivo immune changes are superimposed by a simultaneous resolution of hyperthyroidism . Secondly, if a true immunosuppressive effect of ATDs were to be present, one would expect a dose-dependent
hyperthyroidism 45330 with or without ophthalmopathy have not been able to match expectations with regards to reduction in hyperthyroidism relapses or improved ophthalmopathy superior to that seen with glucocorticoids [[87], [129], [130]],
hypoparathyroidism 48316 treatment approaches have a lack of specificity and can have undesired consequences (e.g., persistent hypoparathyroidism and laryngeal palsy in surgery or worsening of Graves’ orbitopathy in radioactive iodine treatment).
thyroiditis 18476 central nervous system. A recent analysis of autoimmunity in these patients also described autoimmune thyroiditis in a boy with a genetically proven monogenic interferonopathy [[50]].In this respect, it is very interesting
thyroiditis 20892 impaired negative selection of autoimmune T cells in the thymus. Nine patients with familial autoimmune thyroiditis with deficiencies in CD3γ have been identified to date [[59]]. These patients also have susceptibility
thyroiditis 22989 GD patients survive the autoimmune T cell response, whereas those from patients with Hashimoto’s thyroiditis (HT) do not [[64]].Mutations associated with impaired peripheral T cell toleranceAutoreactive T cells
thyrotoxicosis 975 cut-offs regarding dates were imposed. We used the terms “Graves’ Disease” or “Basedow” or “ thyrotoxicosis ” together with the terms “etiology”, “pathophysiology”, “immunodeficiency”, “causality”,
thyrotoxicosis 7993 cut-offs regarding dates were imposed. We used the terms “Graves’ Disease” or “Basedow” or “ thyrotoxicosis ” together with the terms “etiology”, “pathophysiology”, “immunodeficiency”, “causality”,
thyrotoxicosis 10007 demonstrated racial variations in prevalence; indeed, African Americans were more likely to develop thyrotoxicosis (odds ratio (OR) 2.9, 95% confidence interval 1.5–5.7) compared to Caucasians, whereas there was no
type 1 diabetes mellitus 2967 typesProtein/SynapseGeneMechanismAssociation with Graves’ diseaseReferenceSelective IgA deficiencyCeliac disease, type 1 diabetes mellitus , impaired mucosal defense, most common PIDB cellsGranulocytesLigation with its receptor (FcαRI) leads
type 1 diabetes mellitus 7664 thrombocytopenic purpura, MFG-E8 Milk fat globule epidermal growth factor 8, PID primary immunodeficiency, T1DM type 1 diabetes mellitus , TR thyrotropin relatedMain textLiterature search and inclusion criteriaRelevant studies were identified
type 1 diabetes mellitus 32356 gastrointestinal tract and airways. Of note, considerable numbers of subjects develop AIDs such as celiac disease, type 1 diabetes mellitus , SLE, and GD [[95]]. Selective IgA deficiency is not due to mutations in the gene encoding for IgA,

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