Abstract：
ELF4 deficiency has been recently recognized as a novel disorder within the spectrum of inborn errors of immunity (IEIs), specifically categorized as a \"disease of immune dysregulation.\" Cases of this condition, reported by our team and others, are very limited worldwide. As such, our current knowledge of this new disease remains preliminary. This review aims to provide a brief overview of the clinical manifestations, pathogenesis, and treatment strategies for this novel IEI.
A comprehensive review was conducted after an extensive literature search in the PubMed/Medline database and websites concerning transcriptional factor ELF4 and reports concerning patients with ELF4 deficiency. Our search strategy was \"ELF4 OR ETS-related transcription factor Elf-4 OR EL4-like factor 4 OR myeloid Elf-1-like factor\" as of the time of manuscript submission.
The current signature manifestations of ELF4 deficiency disorder are recurrent and prolonged oral ulcer, abdominal pain, and diarrhea in pediatric males. In some cases, immunodeficiency and autoimmunity can also be prominent. Targeted Sanger sequencing or whole exome sequencing can be used to detect variation in ELF4 gene. Western blotting for ELF4 expression of the patient\'s cells can confirm the pathogenic effect of the variant. To fully confirm the pathogenicity of the variant, further functional test is strongly advised. Glucocorticoid and biologics are the mainstream management of ELF4 deficiency disorder.
Pediatric males presenting with recurring ulcerations in digestive tract epithelium with or without recurrent fever should be suspected of DEX. When atypical presentations are prominent, variations in ELF4 gene should be carefully evaluated functionally due to the complex nature of ELF4 function. Experience of treating DEX includes use of glucocorticoid and biologics and more precise treatment needs more patients to identify and further mechanistic study.
A comprehensive review was conducted after an extensive literature search in the PubMed/Medline database and websites concerning transcriptional factor ELF4 and reports concerning patients with ELF4 deficiency. Our search strategy was \"ELF4 OR ETS-related transcription factor Elf-4 OR EL4-like factor 4 OR myeloid Elf-1-like factor\" as of the time of manuscript submission.
The current signature manifestations of ELF4 deficiency disorder are recurrent and prolonged oral ulcer, abdominal pain, and diarrhea in pediatric males. In some cases, immunodeficiency and autoimmunity can also be prominent. Targeted Sanger sequencing or whole exome sequencing can be used to detect variation in ELF4 gene. Western blotting for ELF4 expression of the patient\'s cells can confirm the pathogenic effect of the variant. To fully confirm the pathogenicity of the variant, further functional test is strongly advised. Glucocorticoid and biologics are the mainstream management of ELF4 deficiency disorder.
Pediatric males presenting with recurring ulcerations in digestive tract epithelium with or without recurrent fever should be suspected of DEX. When atypical presentations are prominent, variations in ELF4 gene should be carefully evaluated functionally due to the complex nature of ELF4 function. Experience of treating DEX includes use of glucocorticoid and biologics and more precise treatment needs more patients to identify and further mechanistic study.
摘要：
背景：ELF4缺乏症最近被认为是先天性免疫错误（IEI）范围内的一种新型疾病，特别归类为“免疫失调的疾病”。\"这种情况下，由我们的团队和其他人报告，在世界范围内非常有限。因此，我们目前对这种新疾病的了解仍是初步的。这篇综述旨在对其临床表现进行简要概述，发病机制，以及这种新型IEI的治疗策略。
方法：在PubMed/Medline数据库和有关转录因子ELF4的网站以及有关ELF4缺陷患者的报告中进行了广泛的文献检索后，进行了全面的综述。截至投稿时，我们的搜索策略为“ELF4或ETS相关转录因子Elf-4或EL4样因子4或髓样Elf-1样因子”。
结果：目前ELF4缺乏症的主要表现是复发性和长期口腔溃疡，腹痛,小儿男性腹泻。在某些情况下,免疫缺陷和自身免疫也是突出的。靶向Sanger测序或全外显子组测序可用于检测ELF4基因的变异。患者细胞ELF4表达的蛋白质印迹可以证实该变体的致病作用。为了充分确认变异体的致病性，强烈建议进一步的功能测试。糖皮质激素和生物制剂是治疗ELF4缺乏症的主流方法。
结论：出现消化道上皮复发性溃疡伴或不伴反复发热的儿童男性应怀疑DEX。当非典型表现突出时，由于ELF4功能的复杂性，ELF4基因的变异应仔细评估功能。治疗DEX的经验包括使用糖皮质激素和生物制剂，更精确的治疗需要更多的患者来识别和进一步的机理研究。
方法：在PubMed/Medline数据库和有关转录因子ELF4的网站以及有关ELF4缺陷患者的报告中进行了广泛的文献检索后，进行了全面的综述。截至投稿时，我们的搜索策略为“ELF4或ETS相关转录因子Elf-4或EL4样因子4或髓样Elf-1样因子”。
结果：目前ELF4缺乏症的主要表现是复发性和长期口腔溃疡，腹痛,小儿男性腹泻。在某些情况下,免疫缺陷和自身免疫也是突出的。靶向Sanger测序或全外显子组测序可用于检测ELF4基因的变异。患者细胞ELF4表达的蛋白质印迹可以证实该变体的致病作用。为了充分确认变异体的致病性，强烈建议进一步的功能测试。糖皮质激素和生物制剂是治疗ELF4缺乏症的主流方法。
结论：出现消化道上皮复发性溃疡伴或不伴反复发热的儿童男性应怀疑DEX。当非典型表现突出时，由于ELF4功能的复杂性，ELF4基因的变异应仔细评估功能。治疗DEX的经验包括使用糖皮质激素和生物制剂，更精确的治疗需要更多的患者来识别和进一步的机理研究。
