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Trio-based exome sequencing and high-resolution HLA typing in families of patients with autoimmune adrenal insufficiency and autoimmune polyglandular syndrome.

PloS one - 1 Jan 2024

Buianova Anastasiia, Yukina Marina, Cheranev Valery, Suchalko Oleg, Shmitko Anna, Samitova Alina, Nuralieva Nurana, Kulagina Elena, Savvateeva Elena, Troshina Ekaterina, Rebrikov Denis, Gryadunov Dmitry, Korostin Dmitriy

Abstract excerpt

Autoimmune adrenal insufficiency (AAI) is a rare disease. This research evaluates three patients with AAI, including autoimmune polyglandular syndrome (APS) type 2. Two patients had APS or AAI during childhood, and one had a history of endocrine autoimmune disease, indicating a possible hereditary basis of the condition. Trio-based exome sequencing and high-resolution HLA typing were employed to analyze patients...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 39423205
DOI: 10.1371/journal.pone.0312335
PMCID: PMC11488712

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