As we close out 2021 and look forward optimistically to 2022, I share with you two articles, both from our NIH study team.  The first article shows the great progress they’ve made diagnosing and treating APECED pneumonitis.  The second article provides a comprehensive and thorough, but not overly technical, review of the disorder.  This is a great article to share with your care team, especially teams who are new to APS Type 1.

An AIREless Breath: Pneumonitis Caused by Impaired Central Immune Tolerance

APECED pneumonitis can be life threatening when left untreated.  Periodic screening which includes chest CT and other measures is the key to early diagnosis.  This disease can be treated effectively if caught in its early stages.

“Recent work has drawn attention to the development of life-threatening non-endocrine manifestations such as autoimmune pneumonitis, which has previously been poorly recognized and under-reported. In this review, we present the clinical, radiographic, autoantibody, and pulmonary function abnormalities associated with APECED pneumonitis, we highlight the cellular and molecular basis of the autoimmune attack in the AIRE-deficient lung, and we provide a diagnostic and a therapeutic roadmap for patients with APECED pneumonitis.”

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy

“In this review, we present our current knowledge of the genetic and immunological underpinnings of AIRE deficiency and discuss the clinical presentation, diagnostic criteria, and management of APECED patients.”

If you needed to pick one article to share with a physician who was unfamiliar with APS Type 1/APECED in order to quickly bring that doctor up to speed, this would be the article to choose.  It is comprehensive, and thorough, without becoming overly technical.   The article clearly reflects the vast wealth of knowledge and experience the doctors and researchers at the NIH have painstakingly acquired over the past ten years regarding this challenging disorder, as well the breakthroughs in treatment they have achieved. It covers the following areas:

  • Genetics of APECED (AIRE mutations)
  • Pathogenesis of Aire Deficiency including subsections on: 
    • AIRE-Deficient T Lymphocytes
    • Tissue Antigen-Specific Autoantibodies
    • Autoantibodies Against Type-I Interferons (IFNs)
    • COVID-19 Infection and Vaccination in APECED Patients 
    • Autoantibodies Against Type-17 Cytokines, IFN-γ-Driven Defects in Oral Epithelial Barrier, and Chronic Mucocutaneous Candidiasis (CMC)
  • Clinical Presentation and Diagnosis of APECED
  • Clinical Management of APECED Patients, including subsections on:
    • Surveillance for New Manifestations
    • Management of CMC
    • Management of Endocrine Manifestations
    • Management of Non-endocrine Manifestations

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