Monogenic autoimmune diseases of the endocrine system
Figure 1_mechanisms underlying the pathogenesis of monogenic autoimmune endocrine disease.pptx (134.4Kb) Figure 2_ infogram features of disorders.pptx (398.1Kb) Introduction_review_article_final_submitted_version.docx (322.1Kb) Introduction_review_article_supplementary_tables.docx (95.23Kb)
Lancet Diabetes & Endocrinology
Reason for embargo
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.
ATH is supported by a Wellcome Trust Senior Investigator award and SEF has a Sir Henry Dale Fellowship jointly funded by the Wellcome Trust and the Royal Society (Grant Number: 105636/Z/14/Z).
This is the author accepted manuscript. The final version is available from the publisher via the DOI in this record.
Vol. 4, pp. 862 - 872
Place of publication