Article

Dual genetic diagnoses: AIRE and FOXRED1-Related Syndromes in two brothers

2026-02-11

Abstract excerpt

<title>Abstract</title> <p> Autoimmune polyglandular syndrome type 1 (APS-1) is a rare autosomal recessive disorder caused by mutations in the <italic>AIRE</italic> gene. While the classic triad of chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenal insufficiency defines the syndrome, its phenotypic spectrum can be broad and complex. While a single genetic etiology is typically assumed, the co-o...

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Literature Corpus work: 4aa953ba-5618-50e0-9aed-d216c8f74b7e
DOI: 10.21203/rs.3.rs-8551715/v1

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