PDF(Pubmed)
Abstract：
Background: An unclassified primary antibody deficiency (unPAD) is a widely heterogeneous clinical entity, recently identified within the spectrum of Inborn Errors of Immunity (IEIs). Since unPAD has been traditionally considered as a mild condition, it has incorrectly received little attention, resulting in the paucity of extensive and comparable studies describing its natural history. To address the gaps in characterizing, understanding, and managing pediatric unPAD patients, the Italian Primary Immunodeficiency Network (IPINet) Ped-unPAD study has recently been launched. Methods: Seventeen IPINeT Centers have expressed interest to participate, and data collection is still on-going. Hereby, we anticipate preliminary key issues emerging from the first 110 enrolled patients, attending three IPINet Centers. Results: A proportion of unPAD patients have experienced a severe infectious phenotype, which required hospitalization in a quarter of patients and antibiotic prophylaxis or Immunoglobulin Replacement Therapy in approximately 10% of patients. In this partial cohort, a mean follow-up (FU) of 5 years confirmed unPAD diagnosis in fifty percent of cases, with the remaining being reclassified as the Transient Hypogammaglobulinemia of Infancy (25%) and other IEIs (25%), such as a Common Variable Immunodeficiency, Selective IgA deficiency, Selective IgM deficiency, and IgG3 subclass deficiency. Conclusions: Despite a phenotype overlap at diagnosis, clinicians should be aware that unPAD is a mutable condition that deserves comprehensive evaluation and long-term monitoring to dissect the final diagnosis for optimal treatment.
摘要：
背景：未分类的原发性抗体缺乏症（unPAD）是一种广泛异质性的临床实体，最近在先天免疫错误(IEI)范围内发现。由于unPAD传统上被认为是轻度疾病，它错误地受到了很少的关注，导致缺乏描述其自然历史的广泛和可比的研究。为了解决表征方面的差距，理解,管理儿科unpad患者，意大利原发性免疫缺陷网络(IPINet)Ped-unPAD研究最近启动.方法：17个IPINET中心表示有兴趣参与，数据收集仍在进行中。特此,我们预计首批110名入选患者会出现初步关键问题，参加了三个IPINet中心。结果：一定比例的unPAD患者经历了严重的感染表型，四分之一的患者需要住院治疗，大约10%的患者需要抗生素预防或免疫球蛋白替代疗法。在这个部分队列中，5年的平均随访（FU）在50％的病例中确认了未PAD的诊断，其余的被重新分类为婴儿短暂性低丙种球蛋白血症（25％）和其他IEI（25％），例如常见的可变免疫缺陷，选择性IgA缺乏症,选择性IgM缺乏症,和IgG3亚类缺乏症。结论：尽管诊断时存在表型重叠，临床医生应该意识到,unPAD是一种易变的病症,值得进行全面评估和长期监测,以剖析最终诊断,从而获得最佳治疗.
