AIP抗体;AIP Antibody—艾普蒂

Antibodies against autoimmune regulator (AIRE) or type 1 interferons (IFNs) are closely associated with Autoimmune Polyendocrine Syndrome Type 1 (APS-1), a rare monogenic disorder caused by mutations in the *AIRE* gene. APS-1 is characterized by autoimmune destruction of multiple endocrine organs (e.g., adrenal glands, pancreas) and non-endocrine tissues. A hallmark of APS-1 is the presence of neutralizing autoantibodies against type 1 IFNs (α/ω), detected in nearly all patients. These antibodies emerge early in life, often preceding clinical symptoms, and serve as a sensitive diagnostic marker. They may impair IFN signaling, contributing to immune dysregulation and susceptibility to chronic mucocutaneous candidiasis. Additionally, autoantibodies targeting organ-specific antigens (e.g., adrenal enzymes, pancreatic β-cells) drive tissue-specific autoimmunity. Beyond APS-1. anti-IFN antibodies are also observed in thymic tumors and occasionally in other autoimmune conditions, but their pathogenicity and clinical relevance vary. Research into these antibodies enhances understanding of immune tolerance mechanisms and aids in developing targeted therapies for APS-1 and related disorders.