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.
May 2026 in “Journal of Human Immunity” Ruxolitinib reduced inflammation and improved symptoms in APECED patients but may cause anemia and weight gain.
December 2025 in “Journal of Human Immunity” JAK inhibitors may help improve symptoms in adults with APECED.
January 2026 in “Clinical and Experimental Dermatology” Ruxolitinib helped a patient with alopecia areata regrow hair.
4 citations
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April 2007 in “Journal of Pediatric Gastroenterology and Nutrition” A liver transplant patient with APECED had a rare VZV recurrence and pneumonia, treated successfully, but later died from other infections.