Two Cases of Behcet's Disease-Like Syndrome with Gene Deficiency in ELF4

VernacularTitle:ELF4基因缺陷的类白塞病样综合征2例报告
Author: Nan WANG ¹ ; Yongmei XIE ; Zhiling WANG
Author Information

1. 四川大学华西第二医院儿科 (成都 610041);出生缺陷与相关妇儿疾病教育部重点实验室(四川大学) (成都 610041);四川大学华西临床医学院 (成都 610041)
Keywords: ELF4 gene; Diseases of immune dysregulation; Behecet's disease; Crohn's disease
From: Journal of Sichuan University (Medical Sciences) 2024;55(3):756-761
CountryChina
Language:Chinese
Abstract: The patient 1,a 13-year-old boy,was admitted due to"recurrent oral ulcers for 3 years,abdominal pain for 8 months,and perianal ulcers for 10 days";The patient 2,a 3-year-old boy,was admitted due to"recurrent abdominal pain,diarrhea,and fever for over 3 months".Genetic testing of both patients revealed"deficiency in ELF4,X-linked"(DEX),and the patients were diagnosed with Behcet's disease-like syndrome due to deficiency in ELF4,accordingly.The patient 1 was successively given intravenous methylprednisolone pulses and oral prednisone and mesalazine for symptomatic treatment.The patient 2 was successively treated with corticosteroids combined with enteral nutrition,as well as oral mercaptopurine.Subsequently,both patients showed improvements in symptoms and were discharged.