ArticleJournal of Korean medical science2025
Endocrine Disorders in Patients With Inborn Errors of Immunity.
Article in Journal of Korean medical science, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- When to consider an inborn error of immunity: clues for physicians.Internal medicine journal · 2026Review
- Thyroid nodule and autoimmune thyroid disease frequency in adults with inborn errors of immunity: a case-control study.BMC immunology · 2026Article
- Prevalence, associated clinical factors, and genetic characteristics of endocrinopathies in common variable immunodeficiency: a retrospective study of 95 adult patients from a single tertiary care center.Frontiers in immunology · 2026Observational
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Authors and funding
17 authors.
Funding
Abstract
backgroundHuman inborn errors of immunity (IEIs) include disorders characterized by aberrant function or development of the immune system. Recently, interest in the immune and endocrine systems has increased. We aimed to investigate endocrine disorders in patients with IEIs.
methodsData on patients with IEIs diagnosed from 1994 to 2021 at Samsung Medical Center, Seoul, Korea were reviewed. Each IEI was classified according to the International Union of Immunological Societies classification, and endocrine issues were reviewed.
resultsOf the 169 patients with IEIs, an endocrine evaluation was performed in 130 (76.9%). Thirty-five of the 130 patients (27% of the evaluated group) were diagnosed with at least one endocrine disorder, representing approximately 20% of all IEI patients with cumulative incidence of 32.3% at 20 years and 39.8% at 40 years. Patients with 'diseases of immune dysregulation' showed the highest proportion of endocrine disorders. Additionally, six of these 35 patients had two distinct endocrine conditions. Thyroid involvement was most commonly observed (n = 15), followed by hypogonadism (n = 8), adrenal insufficiency (n = 7), growth hormone deficiency (n = 6), hypoparathyroidism (n = 3), and diabetes (n = 2).
conclusionWe described endocrine disorders in patients with IEIs in Korea. About 20% of IEI patients had endocrine problems. Endocrine evaluations should be considered in IEI patients.
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