March 2026 in “JID Innovations” Aire mutation reduces alopecia areata, while Notch4 mutation prevents it in mice.
June 2025 in “British Journal of Dermatology” Ruxolitinib helped a woman with a genetic mutation regrow her hair and improved her health.
26 citations
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September 2009 in “Clinical genetics” Arab APS1 patients have unique and recurrent AIRE gene mutations.
6 citations
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January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
31 citations
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May 2021 in “Journal of endocrinological investigation” APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.