Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a case series and experience from a UK tertiary paediatric hospital

Abstract

Objectives: Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a multi-system autoimmune disorder caused by AIRE gene variants. Diagnosis can be challenging and often delayed. A specialised clinic for children and young people with APECED established in 2024 at Bristol Royal Hospital for Children, recruited patients from South-West England. We describe the diagnostic journey, disease progression and management challenges for 4 patients with APECED.

Case presentation: All cases had a history of fungal nail infections and chronic mucocutaneous candidiasis preceding the development of endocrinopathy. Hypoparathyroidism was the most common endocrine presentation (n=3). Two patients had pancreatic exocrine dysfunction requiring pancreatic enzyme replacement. One patient had primary ovarian insufficiency (POI) aged 11. One female without evidence of POI was referred to fertility services to discuss fertility preservation. Immunomodulation was used in 2 patients; 1 received sirolimus, rituximab, corticosteroids, mycophenolate followed by ruxolitinib and 1 patient recently started ruxolitinib.

Conclusions: Inter-speciality working is important to detect and manage a range of comorbidities as new immunomodulatory therapies that aim to prevent disease progression are emerging. Proactive screening for certain autoantibodies such as 21-OH can help predict patients at risk of certain endocrinopathies and may provide an opportunity for early intervention to prevent long-term morbidity.

Keywords: APECED; APS-1; autoimmunity; hypoparathyroidism; primary adrenal insufficiency; primary ovarian insufficiency.