Delayed diagnosis of STAT1 gain-of-function variant in a patient with multiple endocrine autoimmunity and recurrent fungal infections

This case report describes a 54-year-old woman with multiple endocrine autoimmune pathologies and recurrent mucocutaneous Candida spp. infections that were inappropriately attributed to her glycemic control. Following an allergic reaction over four decades later, the patient was referred to clinical...

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Bibliographic Details
Main Authors: Sydney Sparanese, Rae Brager, David Fahmy, Jenny Garkaby
Format: Article
Language:English
Published: Bioscientifica 2025-07-01
Series:Endocrinology, Diabetes & Metabolism Case Reports
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Online Access:https://edm.bioscientifica.com/view/journals/edm/2025/3/EDM-25-0054.xml
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