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

作　　者：Hong-Qiang Du Xiao-Dong Zhao 

机构地区：[1]Department of Rheumatology&Immunology,National Clinical Research Center for Child Health and Disorders,Ministry of Education Key Laboratory of Child Development and Disorders,Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity,Children’s Hospital of Chongqing Medical University,Zhongshan Er Road 136Yuzhong District,Chongqing,China

出　　处：《World Journal of Pediatrics》2024年第5期444-450,共7页世界儿科杂志（英文版）

基　　金：funded by National Natural Science Foundation of China(82101908,82371823);Postdoc Fund of Chongqing Natural Science Foundation(cstc2021jcyj-bshX0226).

摘　　要：Background 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.Data sources 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.Results 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.Conclusions 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.

关 键 词：ELF4 transcription factor Immune dysregulation Inborn errors of immunity Mechanism Recurrent infections 

分 类 号：R593.3[医药卫生—内科学]