Article
Underlying IPEX Syndrome in a Patient With Idiopathic Juvenile Arthritis and Vitiligo
2021-06-30
Abstract excerpt
<title>Abstract</title> <p>IPEX syndrome (MIM #304790) also known as immune dysregulation, polyendocrinopathy, enteropathy, X-linked is a monogenic inborn error of immunity due to loss-of-function mutations in the forkhead box 3 (FOXP3) gene. This gene is crucial for the development, maturation and maintenance of CD4<sup>+ </sup>regulatory T (T-reg) cells. Various phenomenon mainly of autoimmune origin are charac...
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Identifiers and source
- Literature Corpus work
- 7930edb5-ff72-561c-b3a0-316d61629b16
- DOI
- 10.21203/rs.3.rs-649742/v1
