Monogenic autoimmune diseases of the endocrine system.

2.50
Hdl Handle:
http://hdl.handle.net/11287/620287
Title:
Monogenic autoimmune diseases of the endocrine system.
Authors:
Johnson, M. B.; Hattersley, Andrew T.; Flanagan, S. E.
Abstract:
The most common endocrine diseases, type 1 diabetes, hyperthyroidism, and hypothyroidism, are the result of autoimmunity. Clustering of autoimmune endocrinopathies can result from polygenic predisposition, or more rarely, may present as part of a wider syndrome due to a mutation within one of seven genes. These monogenic autoimmune diseases show highly variable phenotypes both within and between families with the same mutations. The average age of onset of the monogenic forms of autoimmune endocrine disease is younger than that of the common polygenic forms, and this feature combined with the manifestation of other autoimmune diseases, specific hallmark features, or both, can inform clinicians as to the relevance of genetic testing. A genetic diagnosis can guide medical management, give an insight into prognosis, inform families of recurrence risk, and facilitate prenatal diagnoses.
Citation:
Monogenic autoimmune diseases of the endocrine system. 2016, 4 (10):862-72 Lancet Diabetes Endocrinol
Publisher:
Elsevier
Journal:
The Lancet. Diabetes & Endocrinology
Issue Date:
Oct-2016
URI:
http://hdl.handle.net/11287/620287
DOI:
10.1016/S2213-8587(16)30095-X
PubMed ID:
27474216
Additional Links:
https://linkinghub.elsevier.com/retrieve/pii/S2213-8587(16)30095-X
Type:
Journal Article
Language:
en
ISSN:
2213-8595
Appears in Collections:
Diabetes/Endocrine Services; 2016 RD&E publications

Full metadata record

DC FieldValue Language
dc.contributor.authorJohnson, M. B.en
dc.contributor.authorHattersley, Andrew T.en
dc.contributor.authorFlanagan, S. E.en
dc.date.accessioned2017-03-14T15:38:41Z-
dc.date.available2017-03-14T15:38:41Z-
dc.date.issued2016-10-
dc.identifier.citationMonogenic autoimmune diseases of the endocrine system. 2016, 4 (10):862-72 Lancet Diabetes Endocrinolen
dc.identifier.issn2213-8595-
dc.identifier.pmid27474216-
dc.identifier.doi10.1016/S2213-8587(16)30095-X-
dc.identifier.urihttp://hdl.handle.net/11287/620287-
dc.description.abstractThe most common endocrine diseases, type 1 diabetes, hyperthyroidism, and hypothyroidism, are the result of autoimmunity. Clustering of autoimmune endocrinopathies can result from polygenic predisposition, or more rarely, may present as part of a wider syndrome due to a mutation within one of seven genes. These monogenic autoimmune diseases show highly variable phenotypes both within and between families with the same mutations. The average age of onset of the monogenic forms of autoimmune endocrine disease is younger than that of the common polygenic forms, and this feature combined with the manifestation of other autoimmune diseases, specific hallmark features, or both, can inform clinicians as to the relevance of genetic testing. A genetic diagnosis can guide medical management, give an insight into prognosis, inform families of recurrence risk, and facilitate prenatal diagnoses.en
dc.language.isoenen
dc.publisherElsevieren
dc.relation.urlhttps://linkinghub.elsevier.com/retrieve/pii/S2213-8587(16)30095-Xen
dc.rightsArchived with thanks to The Lancet. Diabetes & endocrinologyen
dc.subjectWessex Classification Subject Headings::Endocrinologyen
dc.titleMonogenic autoimmune diseases of the endocrine system.en
dc.typeJournal Articleen
dc.identifier.journalThe Lancet. Diabetes & Endocrinologyen
dc.type.versionPublisheden

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