Endocrine Disorders in Patients With Inborn Errors of Immunity

Human 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.

Data 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.

Of 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).

We 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.