Although recurrent infections in Rubinstein–Taybi syndrome (RSTS) are common, and probably multifactorial, immunological abnormalities have not been extensively described with only isolated cases or small case series of immune deficiency and dysregulation having been reported. The objective of this study was to investigate primary immunodeficiency (PID) and immune dysregulation in an international cohort of patients with RSTS. All published cases of RSTS were identified. The corresponding authors and researchers involved in the diagnosis of inborn errors of immunity or genetic syndromes were contacted to obtain up-to-date clinical and immunological information. Ninety-seven RSTS patients were identified. For 45 patients, we retrieved data from the published reports while for 52 patients, a clinical update was provided. Recurrent or severe infections, autoimmune/autoinflammatory complications, and lymphoproliferation were observed in 72.1%, 12.3%, and 8.2% of patients. Syndromic immunodeficiency was diagnosed in 46.4% of individuals. Despite the broad heterogeneity of immunodeficiency disorders, antibody defects were observed in 11.3% of subjects. In particular, these patients presented hypogammaglobulinemia associated with low B cell counts and reduction of switched memory B cell numbers. Immunoglobulin replacement therapy, antibiotic prophylaxis, and immunosuppressive treatment were employed in 16.4%, 8.2%, and 9.8% of patients, respectively. Manifestations of immune dysfunctions, affecting mostly B cells, are more common than previously recognized in patients with RSTS. Full immunological assessment is warranted in these patients, who may require detailed investigation and specific supportive treatment.

Graphical Abstract

尽管 Rubinstein-Taybi 综合征 (RSTS) 的复发性感染很常见，并且可能是多因素的，但尚未广泛描述免疫异常，仅报道了孤立病例或小病例系列的免疫缺陷和失调。本研究的目的是在国际 RSTS 患者队列中调查原发性免疫缺陷 (PID) 和免疫失调。确定了所有已发表的 RSTS 病例。联系了参与先天性免疫缺陷或遗传综合征诊断的相应作者和研究人员，以获取最新的临床和免疫学信息。确定了 97 名 RSTS 患者。对于 45 名患者，我们从已发表的报告中检索数据，而对于 52 名患者，提供了临床更新。在 72.1%、12.3% 和 8.2% 的患者中观察到复发或严重感染、自身免疫/自身炎症并发症和淋巴增生。46.4% 的个体被诊断为综合征性免疫缺陷。尽管免疫缺陷疾病具有广泛的异质性，但在 11.3% 的受试者中观察到抗体缺陷。特别是，这些患者表现出与 B 细胞计数低和转换记忆 B 细胞数量减少相关的低丙种球蛋白血症。分别有 16.4%、8.2% 和 9.8% 的患者接受了免疫球蛋白替代治疗、抗生素预防和免疫抑制治疗。免疫功能障碍的表现，主要影响 B 细胞，在 RSTS 患者中比以前认识到的更常见。这些患者需要进行全面的免疫学评估，

图形概要