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CaSR-autoantibodies may cause auto-immune hypercalcemia through either simple blocking or biased properties. The phenotype of this rare disease is most often acquired hypocalciuric hypercalcemia (AAH) (Minanbres JCEM 2020, Makita JCI insight 2022), but sometimes hyperparathyroidism (Pelletier-Morel Intern Med 2008), in elderly. Gender, auto-immune context is variable. Blood calcium may fluctuate, and acute exacerbations may be successfully treated with predni...

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ea0063oc7.5 | Endocrine Connections 1 | ECE2019

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) syndrome: French prospective study in a cohort of 25 patients

Humbert Linda , Dubucquoi Sylvain , Kemp Helen , Veber Pascale Saugier , Fabien Nicole , Top Isabelle Raymond , Bauters Catherine Cardot , Cartigny Maryse , Delemer Brigitte , Docao Christine , Penfornis Alfred , Guignat Laurence , Kerlan Veronique , Lefevbre Herve , Chabre Olivier , Vanhove Laura , Sendid Boualem , Carel Jean-Claude , Souchon Perre-Francois , Weil Jacques , Vantyghem Marie-Christine , Wemeau Jean-Louis , Proust-Lemoine Emmanuelle

Background: APECED syndrome is a rare monogenic disease caused by homozygous mutation of AIRE gene. It classically presents with chronic mucocutaneous candidiasis (CMC), hypoparathyroidism (HP), and adrenal insufficiency (AI) with an early onset in childhood. Non-endocrine manifestations as ectodermic dystrophy, asplenism and pneumonitis are also observed but their incidence remains unknown and their mechanisms not well understood. APECED has been poorly reported in France alt...

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Endocrine Abstracts

Hypercalcemia with positive calcium-sensing receptor (casr) autoantibodies

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) syndrome: French prospective study in a cohort of 25 patients

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