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Population genetics and functions of the autoimmune regulator (AIRE)

✍ Scribed by Kumar, Pradeep G; Laloraya, Malini; She, Jin-Xiong


Book ID
123359074
Publisher
Elsevier Science
Year
2002
Tongue
English
Weight
248 KB
Volume
31
Category
Article
ISSN
0889-8529

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APECED mutations in the autoimmune regul
✍ Maarit Heino; PΓ€rt Peterson; Jun Kudoh; Nobuyoshi Shimizu; Stylianos E. Antonara πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 336 KB

Autoimmune polyendocrinopathy candidiasis-ectodermal dystrophy (APECED) is a rare recessively inherited disorder caused by mutations in the AIRE (autoimmune regulator) gene. APECED is characterized by variable combinations of endocrine autoimmune diseases such as Addisons disease, hypoparathyroidism