Background

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare inborn error of immunity caused by mutations in the forkhead box P3 (FOXP3) gene.

Objective

In this study, we conducted a systematic review of patients with IPEX and IPEX-like syndrome to delineate differences in these 2 major groups.

Methods

The literature search was performed in PubMed, Web of Science, and Scopus databases, and demographic, clinical, immunologic, and molecular data were compared between the IPEX and IPEX-like groups.

Results

A total of 459 patients were reported in 148 eligible articles. Major clinical differences between patients with IPEX and IPEX-like syndrome were observed in rates of pneumonia (11% vs 31%, P < .001), bronchiectasis (0.3% vs 14%, P < .001), diarrhea (56% vs 42%, P = .020), and organomegaly (10% vs 23%, P = .001), respectively. Eosinophilia (95% vs 100%), low regulatory T-cell count (68% vs 50%), and elevated IgE (87% vs 61%) were the most prominent laboratory findings in patients with IPEX and IPEX-like syndrome, respectively. In the IPEX group, a lower mortality rate was observed among patients receiving hematopoietic stem cell transplantation (HSCT) (24%) compared with other patients (43%), P = .008; however, in the IPEX-like group, it was not significant (P = .189).

Conclusions

Patients with IPEX syndrome generally suffer from enteropathy, autoimmunity, dermatitis, eosinophilia, and elevated serum IgE. Despite similarities in their clinical presentations, patients with IPEX-like syndrome are more likely to present common variable immunodeficiency–like phenotype such as respiratory tract infections, bronchiectasis, and organomegaly. HSCT is currently the only curative therapy for both IPEX and IPEX-like syndrome and may result in favorable outcome.

中文翻译：

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免疫调节异常，多内分泌病，肠病，X连锁（IPEX）和IPEX样综合征的患者的临床，免疫学和遗传学特征。

背景

免疫失调，多内分泌病，肠病，X连锁（IPEX）综合征是由叉头盒P3（FOXP3）基因突变引起的罕见的先天性免疫错误。

目的

在这项研究中，我们对IPEX和类IPEX综合征患者进行了系统评价，以描述这两个主要组的差异。

方法

在PubMed，Web of Science和Scopus数据库中进行文献检索，并比较了IPEX和类IPEX组之间的人口统计学，临床，免疫学和分子数据。

结果

148篇合格文章共报道459例患者。IPEX和类IPEX综合征患者之间的主要临床差异在肺炎发生率（11％vs 31％，P <.001），支气管扩张（0.3％vs 14％，P <.001），腹泻（56％vs分别为42％（P  = .020）和器官增大（10％vs 23％，P  = .001）。嗜酸性粒细胞增多症（95％vs 100％），低调节性T细胞计数（68％vs 50％）和IgE升高（87％vs 61％）分别是IPEX和类IPEX综合征患者的实验室检查结果。 。在IPEX组中，接受造血干细胞移植（HSCT）的患者（24％）的死亡率低于其他患者（43％），P = .008; 但是，在类似IPEX的组中，这并不显着（P  = .189）。

结论

IPEX综合征患者通常患有肠病，自身免疫，皮炎，嗜酸性粒细胞增多和血清IgE升高。尽管临床表现相似，但IPEX样综合征的患者更可能表现出常见的可变免疫缺陷样表型，例如呼吸道感染，支气管扩张和器官增大。HSCT是目前治疗IPEX和IPEX样综合症的唯一疗法，可能会带来良好的疗效。