6 citations
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January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This report details the case of an 11-year-old girl with APECED syndrome carrying a unique homozygous mutation in the AIRE gene, the first of its kind documented.
May 2026 in “Journal of Human Immunity” In this study, researchers found that the JAK1/2 inhibitor ruxolitinib helped normalize tissue-specific autoimmunity in APECED patients by reducing inflammation and immune cell accumulation, but it was also linked to subclinical side effects like anemia and weight gain.
December 2025 in “Journal of Human Immunity” In this case report, a 37-year-old patient with APECED showed significant clinical improvement, including hair regrowth and resolution of skin issues, after 11 months of treatment with ruxolitinib, highlighting the potential of JAK inhibitors in managing this complex autoimmune disease.
January 2026 in “Clinical and Experimental Dermatology” In this case report, complete hair regrowth was observed in a patient with autoimmune-related alopecia areata after treatment with a Janus kinase inhibitor, suggesting its potential effectiveness for both genetic and sporadic forms of the condition.
January 2024 in “Biomedicines” This review discussed the cutaneous manifestations of APECED, highlighting chronic mucocutaneous candidiasis, alopecia areata, and vitiligo, while emphasizing the importance of early detection and monitoring for accurate diagnosis and patient care in various populations.