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hrp0094p2-109 | Diabetes and insulin | ESPE2021

Clinical Case of Cystic Fibrosis-like and APECED-like Syndrome due to Gain-of-Function Variant in STAT1

Vasilev Teodor , Johnson Matthew , Yaneva Natasha , Slavcheva Olga , Modeva Iskra , Hattersley Andrew , Savova Radka ,

Background: STAT1 mutations can cause an extensive spectrum of disease, varying from severe bacterial and viral infections to mild disseminated mycobacterial disease, also chronic mucocutaneous candidiasis. Many patients present with autoimmune manifestations as type 1 diabetes, hypothyroidism and systemic lupus erythematosus. There are risks of cancers and cerebral aneurysms.Aim: To present the clinical manifes...

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Clinical Case of Cystic Fibrosis-like and APECED-like Syndrome due to Gain-of-Function Variant in STAT1

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