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

• Published in: PloS one Vol. 19; no. 10; p. e0312335
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 18.10.2024
• Subjects: Addison Disease - genetics; Addison Disease - immunology; Adolescent; Adrenal insufficiency; Adult; Age; AIRE Protein; Alleles; Analysis; Antibodies; Antigens; Autoimmune diseases; Autoimmunity; Cancer; Care and treatment; Children; Diagnosis; Disease; Endocrine disorders; Endocrine gland diseases; Endocrinology; Exome Sequencing; Families & family life; Female; Females; Gene frequency; Gene sequencing; Genetic aspects; Genetic Predisposition to Disease; Goiter; Haplotypes; Health aspects; High resolution; Histocompatibility antigen HLA; Histocompatibility Testing; Hospitalization; Humans; Hypertension; Hypothyroidism; Immunology; Laboratories; Male; Medical history; Patients; Pedigree; Polyendocrinopathies, Autoimmune - genetics; Polyendocrinopathies, Autoimmune - immunology; Population genetics; Risk assessment; Tissue typing; Transcription Factors - genetics; Ulcers; Whole genome sequencing; Russia; United States > US; Germany

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 b...