Endocrinopathies in Inborn Errors of Immunity

Inborn errors of immunity (IEI), caused by hereditary or genetic defects, are a group of more than 400 disorders, in which the immune system, including lymphocytes, neutrophils, macrophages, and complements, does not function properly. The endocrine system is frequently affected by IEI as an associa...

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Autores principales:	Kei Takasawa, Hirokazu Kanegane, Kenichi Kashimada, Tomohiro Morio
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	endocrinopathy thyroiditis diabetes mellitus growth failure inborn errors of immunity (IEIs) HCT Immunologic diseases. Allergy RC581-607
Acceso en línea:	https://doaj.org/article/5664f9a57e6e44948dd4868ea359551c
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spelling	oai:doaj.org-article:5664f9a57e6e44948dd4868ea359551c2021-11-30T12:44:24ZEndocrinopathies in Inborn Errors of Immunity1664-322410.3389/fimmu.2021.786241https://doaj.org/article/5664f9a57e6e44948dd4868ea359551c2021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fimmu.2021.786241/fullhttps://doaj.org/toc/1664-3224Inborn errors of immunity (IEI), caused by hereditary or genetic defects, are a group of more than 400 disorders, in which the immune system, including lymphocytes, neutrophils, macrophages, and complements, does not function properly. The endocrine system is frequently affected by IEI as an associated clinical feature and a complex network of glands which regulate many important body functions, including growth, reproduction, homeostasis, and energy regulation. Most endocrine disorders associated with IEI are hypofunction which would be treated with supplementation therapy, and early diagnosis and appropriate management are essential for favorable long-term outcomes in patients with IEI. In this review, we aimed to comprehensively summarize and discuss the current understanding on the clinical features and the pathophysiology of endocrine disorders in IEI. This review is composed with three parts. First, we discuss the two major pathophysiology of endocrinopathy in IEI, autoimmune response and direct effects of the responsible genes. Next, the details of each endocrinopathy, such as growth failure, hypothyroidism, hypoparathyroidism, adrenal insufficiency, diabetes mellitus (DM) are specified. We also illustrated potential endocrinopathy due to hematopoietic stem cell transplantation, including hypogonadism and adrenal insufficiency due to glucocorticoid therapy.Kei TakasawaHirokazu KaneganeKenichi KashimadaTomohiro MorioFrontiers Media S.A.articleendocrinopathythyroiditisdiabetes mellitusgrowth failureinborn errors of immunity (IEIs)HCTImmunologic diseases. AllergyRC581-607ENFrontiers in Immunology, Vol 12 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	endocrinopathy thyroiditis diabetes mellitus growth failure inborn errors of immunity (IEIs) HCT Immunologic diseases. Allergy RC581-607
spellingShingle	endocrinopathy thyroiditis diabetes mellitus growth failure inborn errors of immunity (IEIs) HCT Immunologic diseases. Allergy RC581-607 Kei Takasawa Hirokazu Kanegane Kenichi Kashimada Tomohiro Morio Endocrinopathies in Inborn Errors of Immunity
description	Inborn errors of immunity (IEI), caused by hereditary or genetic defects, are a group of more than 400 disorders, in which the immune system, including lymphocytes, neutrophils, macrophages, and complements, does not function properly. The endocrine system is frequently affected by IEI as an associated clinical feature and a complex network of glands which regulate many important body functions, including growth, reproduction, homeostasis, and energy regulation. Most endocrine disorders associated with IEI are hypofunction which would be treated with supplementation therapy, and early diagnosis and appropriate management are essential for favorable long-term outcomes in patients with IEI. In this review, we aimed to comprehensively summarize and discuss the current understanding on the clinical features and the pathophysiology of endocrine disorders in IEI. This review is composed with three parts. First, we discuss the two major pathophysiology of endocrinopathy in IEI, autoimmune response and direct effects of the responsible genes. Next, the details of each endocrinopathy, such as growth failure, hypothyroidism, hypoparathyroidism, adrenal insufficiency, diabetes mellitus (DM) are specified. We also illustrated potential endocrinopathy due to hematopoietic stem cell transplantation, including hypogonadism and adrenal insufficiency due to glucocorticoid therapy.
format	article
author	Kei Takasawa Hirokazu Kanegane Kenichi Kashimada Tomohiro Morio
author_facet	Kei Takasawa Hirokazu Kanegane Kenichi Kashimada Tomohiro Morio
author_sort	Kei Takasawa
title	Endocrinopathies in Inborn Errors of Immunity
title_short	Endocrinopathies in Inborn Errors of Immunity
title_full	Endocrinopathies in Inborn Errors of Immunity
title_fullStr	Endocrinopathies in Inborn Errors of Immunity
title_full_unstemmed	Endocrinopathies in Inborn Errors of Immunity
title_sort	endocrinopathies in inborn errors of immunity
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/5664f9a57e6e44948dd4868ea359551c
work_keys_str_mv	AT keitakasawa endocrinopathiesininbornerrorsofimmunity AT hirokazukanegane endocrinopathiesininbornerrorsofimmunity AT kenichikashimada endocrinopathiesininbornerrorsofimmunity AT tomohiromorio endocrinopathiesininbornerrorsofimmunity
_version_	1718406562559557632

Endocrinopathies in Inborn Errors of Immunity

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