Galletta Francesca, Gambadauro Antonella, Foti Randazzese Simone, Passanisi Stefano, Sinatra Vito, Caminiti Lucia, Zirilli Giuseppina, Manti Sara
Pediatric Unit, Department of Human Pathology in Adult and Developmental Age 'Gaetano Barresi', University of Messina, 98124 Messina, Italy.
Life (Basel). 2024 Oct 18;14(10):1329. doi: 10.3390/life14101329.
Elevated serum IgE levels serve as a critical marker for uncovering hidden immunological disorders, particularly inborn errors of immunity (IEIs), which are often misdiagnosed as common allergic conditions. IgE, while typically associated with allergic diseases, plays a significant role in immune defense, especially against parasitic infections. However, extremely high levels of IgE can indicate more severe conditions, such as Hyper-IgE syndromes (HIES) and disorders with similar features, including Omenn syndrome, Wiskott-Aldrich syndrome, and IPEX syndrome. Novel insights into the genetic mutations responsible for these conditions highlight their impact on immune regulation and the resulting clinical features, including recurrent infections, eczema, and elevated IgE. This narrative review uniquely integrates recent advances in the genetic understanding of IEIs and discusses how these findings impact both diagnosis and treatment. Additionally, emerging therapeutic strategies, such as hematopoietic stem cell transplantation (HSCT) and gene therapies, are explored, underscoring the potential for personalized treatment approaches. Emphasizing the need for precise diagnosis and tailored interventions aims to enhance patient outcomes and improve the quality of care for those with elevated IgE levels and associated immunological disorders.
血清IgE水平升高是发现潜在免疫紊乱的关键标志物，尤其是遗传性免疫缺陷病（IEIs），这类疾病常被误诊为常见的过敏病症。IgE通常与过敏性疾病相关，但在免疫防御中发挥重要作用，特别是针对寄生虫感染。然而，IgE水平极高可能表明存在更严重的病症，如高IgE综合征（HIES）以及具有相似特征的疾病，包括奥门综合征、威斯科特-奥尔德里奇综合征和免疫失调多内分泌腺病肠病X连锁综合征（IPEX综合征）。对导致这些病症的基因突变的新认识凸显了它们对免疫调节的影响以及由此产生的临床特征，包括反复感染、湿疹和IgE升高。这篇叙述性综述独特地整合了对IEIs遗传学理解的最新进展，并讨论了这些发现如何影响诊断和治疗。此外，还探讨了新兴的治疗策略，如造血干细胞移植（HSCT）和基因疗法，强调了个性化治疗方法的潜力。强调精确诊断和量身定制干预措施的必要性，旨在改善患者预后，并提高对IgE水平升高及相关免疫紊乱患者的护理质量。
