婴儿暂时性低丙种球蛋白血症：重新审视一个旧实体。

文献信息

中文摘要

引言： 婴儿暂时性低丙种球蛋白血症（THI）是幼儿期最常见的原发性抗体缺陷之一，其特征为体液免疫成熟延迟，大多数患者免疫球蛋白G（IgG）水平可自发恢复正常。尽管THI传统上被认为是一种良性、自限性疾病，但越来越多的证据表明，它是一种异质性免疫学状况，具有可变的临床表现、免疫异常和长期结局。
涵盖领域： 本叙述性综述总结了通过PubMed/MEDLINE检索从数据库建立至2026年7月期间使用与THI相关术语所识别的证据，并辅以对参考文献列表的人工筛查。临床表现范围从无症状疾病到反复呼吸道感染、喘息、中耳炎、鼻窦炎、特应性疾病，以及较少见的自身免疫或炎症性并发症。一个主要的临床挑战是在幼儿期将THI与持续性原发性抗体缺陷，特别是普通变异型免疫缺陷病区分开来。由于只有在免疫球蛋白水平恢复正常后才能回顾性确立明确诊断，因此仔细的纵向临床和免疫学随访仍然至关重要。
专家意见： 免疫表型分析和分子谱分析的进展正在增进我们对THI发病机制的理解，并可能有助于识别能够区分暂时性免疫延迟与进展性原发性免疫缺陷的生物标志物，从而支持更早诊断和更个体化的随访。

英文摘要

INTRODUCTION: Transient hypogammaglobulinemia of infancy (THI) is one of the most common primary antibody deficiencies presenting in early childhood and is characterized by delayed maturation of humoral immunity with spontaneous normalization of immunoglobulin G (IgG) levels in most patients. Although THI has traditionally been considered a benign, self-limited disorder, increasing evidence suggests that it represents a heterogeneous immunologic condition with variable clinical manifestations, immune abnormalities, and long-term outcomes.
AREAS COVERED: This narrative review summarizes evidence identified through PubMed/MEDLINE searches from database inception to July 2026 using terms related to THI, supplemented by manual screening of reference lists. Clinical manifestations range from asymptomatic disease to recurrent respiratory tract infections, wheezing, otitis media, sinusitis, atopic disease, and, less commonly, autoimmune or inflammatory complications. A major clinical challenge is differentiating THI from persistent primary antibody deficiencies, particularly common variable immunodeficiency, during early childhood. Because definitive diagnosis can only be established retrospectively after normalization of immunoglobulin levels, careful longitudinal clinical and immunologic follow-up remains essential.
EXPERT OPINION: Advances in immunophenotyping and molecular profiling are improving our understanding of THI pathogenesis and may facilitate the identification of biomarkers that distinguish transient immune delay from evolving primary immunodeficiency, supporting earlier diagnosis and more individualized follow-up.