Nguyen Diem-Tran I, Grimes Amanda, Mahoney Donald, Faro Sebastian, Shearer William T, Miller Aaron L, Rider Nicholas L
Department of Pediatrics, Baylor College of Medicine, Houston, TX, United States.
Section of Hematology and Oncology, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, United States.
Front Pediatr. 2021 Jul 7;9:648022. doi: 10.3389/fped.2021.648022. eCollection 2021.
Nuclear factor κappa-B (NFκB) is a family of transcription factors involved in regulating inflammation and immunity. Mutations in the pathway are associated with primary immune defects and underlie the most common monogenic etiology of common variable immunodeficiency (CVID). However, little is known about how defects or primary immunodeficiency (PID) complicate pregnancy. We present a previously healthy 34-year-old patient who suffered from poor wound healing and sterile sepsis during the post-partum period of each of her three pregnancies. She was otherwise asymptomatic, but her daughter developed Evans Syndrome (ES) with hypogammaglobulinemia prompting expanded genetic testing which revealed a novel monoallelic variant in . This case highlights that pregnancy-related complications of PID can be difficult to recognize and may portend adverse patient outcomes. For these reasons, guidance regarding diagnosis and management of women of childbearing age with PID is warranted.
核因子κB（NFκB）是一族参与调节炎症和免疫的转录因子。该信号通路中的突变与原发性免疫缺陷相关，并且是常见变异型免疫缺陷（CVID）最常见的单基因病因基础。然而，关于该信号通路缺陷或原发性免疫缺陷（PID）如何使妊娠复杂化，人们知之甚少。我们报告了一名此前健康的34岁患者，她在三次妊娠的产后期间均出现伤口愈合不良和无菌性败血症。除此之外她没有其他症状，但她的女儿患了伴有低丙种球蛋白血症的伊文氏综合征（ES），这促使进行了扩展基因检测，结果发现了一个新的单等位基因变异。该病例突出表明，PID与妊娠相关的并发症可能难以识别，并且可能预示着不良的患者预后。基于这些原因，有必要为患有PID的育龄妇女提供关于诊断和管理的指导。
