Endocrinopathies in Inborn Errors of Immunity

• Published in: Frontiers in immunology Vol. 12; p. 786241
• Main Authors: Takasawa, Kei, Kanegane, Hirokazu, Kashimada, Kenichi, Morio, Tomohiro
• Format: Journal Article
• Language: English
• Published: Switzerland Frontiers Media S.A 23.11.2021
• Subjects: Animals; Autoimmunity - genetics; diabetes mellitus; Disease Models, Animal; Endocrine System Diseases - chemically induced; Endocrine System Diseases - genetics; Endocrine System Diseases - immunology; endocrinopathy; Glucocorticoids - administration & dosage; Glucocorticoids - adverse effects; growth failure; HCT; Hematopoietic Stem Cell Transplantation - adverse effects; Humans; Immunology; inborn errors of immunity (IEIs); Primary Immunodeficiency Diseases - complications; Primary Immunodeficiency Diseases - genetics; Primary Immunodeficiency Diseases - immunology; Primary Immunodeficiency Diseases - therapy; thyroiditis; HCT; growth failure; inborn errors of immunity (IEIs); diabetes mellitus; thyroiditis; endocrinopathy
• ISSN: 1664-3224; 1664-3224
• DOI: 10.3389/fimmu.2021.786241

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.