Current understanding of ELF4 deficiency: a novel inborn error of immunity

作者全名：Du, Hong-Qiang; Zhao, Xiao-Dong

作者地址：[Du, Hong-Qiang; Zhao, Xiao-Dong] Chongqing Med Univ, Natl Clin Res Ctr Child Hlth & Disorders, Chongqing Key Lab Child Rare Dis Infect & Immun,Mi, Key Lab Child Dev & Disorders,Childrens Hosp,Dept, Zhongshan Er Rd 136Yuzhong Dist, Chongqing, Peoples R China

通信作者：Zhao, XD (通讯作者)，Chongqing Med Univ, Natl Clin Res Ctr Child Hlth & Disorders, Chongqing Key Lab Child Rare Dis Infect & Immun,Mi, Key Lab Child Dev & Disorders,Childrens Hosp,Dept, Zhongshan Er Rd 136Yuzhong Dist, Chongqing, Peoples R China.

来源：WORLD JOURNAL OF PEDIATRICS

ESI学科分类：CLINICAL MEDICINE

WOS号：WOS:001220398300001

JCR分区：Q1

影响因子：6.1

年份：2024

卷号：20

期号：5

开始页：444

结束页：450

文献类型：Review

关键词：ELF4 transcription factor; Immune dysregulation; Inborn errors of immunity; Mechanism; Recurrent infections

摘要：BackgroundELF4 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.Data sourcesA 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.ResultsThe 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.ConclusionsPediatric 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.

基金机构：National Natural Science Foundation of China

基金资助正文：The authors thank all DEX patients and their families, all the doctors who are dedicated to providing care to DEX patients, as well as the scientific teams who are committed to researching DEX.