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<p>Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED/APS-1) is a monogenic disorder of failed central tolerance. Interferon-γ-driven inflammation in APECED underlies multiorgan autoimmunity and chronic mucocutaneous candidiasis and is targetable with JAK1/2 inhibition. Whether early cytokine blockade can avert irreversible endocrine failure is currently unknown. Here, we describe two individuals with APECED who developed evolving autoimmune hypoparathyroidism and hypergonadotropic hypogonadism. Treatment with the JAK1/2 inhibitor ruxolitinib halted progression and reversed biochemical and clinical abnormalities, preserving parathyroid and gonadal function. These findings provide clinical evidence that timely JAK-STAT pathway inhibition can intercept evolving endocrine autoimmunity in APECED. More broadly, they advance a disease-interception paradigm in which early, pathway-directed cytokine blockade may alter the natural history of autoimmune endocrinopathies.</p>

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Ruxolitinib prevents irreversible autoimmune endocrinopathies in APECED

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年8月1日

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  • Joseph Pechacek,
  • Taura Webb,
  • Lucas dos Santos Dias,
  • Rachel Wu,
  • Heather Moorman,
  • Princess Barber,
  • Lindsey B. Rosen,
  • Peter D. Burbelo,
  • Benjamin Colton,
  • Herodes Guzman,
  • Maria Sacta,
  • Shana E. McCormack,
  • Aaron Bennett,
  • Kathleen Loomes,
  • Neil Romberg,
  • Niamh McGrath,
  • Steven M. Holland,
  • Theo Heller,
  • Karen K. Winer,
  • Stefania Pittaluga,
  • Michail S. Lionakis

摘要

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED/APS-1) is a monogenic disorder of failed central tolerance. Interferon-γ-driven inflammation in APECED underlies multiorgan autoimmunity and chronic mucocutaneous candidiasis and is targetable with JAK1/2 inhibition. Whether early cytokine blockade can avert irreversible endocrine failure is currently unknown. Here, we describe two individuals with APECED who developed evolving autoimmune hypoparathyroidism and hypergonadotropic hypogonadism. Treatment with the JAK1/2 inhibitor ruxolitinib halted progression and reversed biochemical and clinical abnormalities, preserving parathyroid and gonadal function. These findings provide clinical evidence that timely JAK-STAT pathway inhibition can intercept evolving endocrine autoimmunity in APECED. More broadly, they advance a disease-interception paradigm in which early, pathway-directed cytokine blockade may alter the natural history of autoimmune endocrinopathies.