Tobin Joshua M, Cooper Megan A
Department of Pediatrics, Division of Rheumatology/Immunology, Washington University in St. Louis, St. Louis, MO, 63119.
J Hum Immun. 2025 Sep 1;1(3). doi: 10.70962/jhi.20250034. Epub 2025 Jul 23.
Inborn errors of immunity (IEI) are monogenic disorders of the immune system that frequently present with autoimmunity or autoinflammation, necessitating multi-specialty care. In many cases, patients may present for rheumatologic evaluation prior to a genetic diagnosis, highlighting the need for recognition of an underlying IEI with immune dysregulation. Here, we review IEI that can present with rheumatologic and autoimmune complications and the role of genetic testing for establishing a molecular diagnosis and devising personalized treatment plans to improve patient outcomes.
遗传性免疫缺陷病（IEI）是免疫系统的单基因疾病，常表现为自身免疫或自身炎症，需要多专科护理。在许多情况下，患者可能在基因诊断之前就进行了风湿病学评估，这凸显了识别潜在的伴有免疫失调的IEI的必要性。在此，我们综述了可伴有风湿病学和自身免疫并发症的IEI，以及基因检测在建立分子诊断和制定个性化治疗方案以改善患者预后方面的作用。
