X-linked Deficiency in ELF4 in Females with Skewed X Chromosome Inactivation.

IF 7.2 2区医学 Q1 IMMUNOLOGY

Journal of Clinical Immunology Pub Date : 2025-02-20 DOI:10.1007/s10875-025-01866-2

Rongtao Zhao, Zhuo Zhang, Shiyue Mei, Li Sun, Qianlu Zhang, Qianying Lv, Fang Zhou, Gan Sun, Lina Zhou, Xuemei Tang, Yunfei An, Zhifeng Liu, Xiaodong Zhao, Hongqiang Du

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Abstract

Deficiency in ELF4, X-linked (DEX) is a newly identified monogenic autoinflammatory disease. Most reported cases are male, leading to the recognition of DEX being primarily limited to male patients. Here we described 3 pediatric female patients with DEX from 3 unrelated families, who are all heterozygous for ELF4 mutations (c.320_c.321insA, c.329delA and c.685 A > G). Similar to reported male DEX patients, the main clinical features include recurring oral ulcers, abdominal pain and diarrhea with colonoscopy showing ulcers in the colon. Meanwhile, novel and effective treatment strategies, such as the use of the biologic vedolizumab and exclusive enteral nutrition (EEN), have provided additional options for the treatment of DEX. Finally, we observed skewed X chromosome inactivation patterns in all three female patients, with over-inactivation of the X chromosome carrying the wild-type allele confirmed in two of them.

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扭曲X染色体失活女性ELF4的X连锁缺失。

缺乏ELF4， x连锁（DEX）是一种新发现的单基因自身炎症性疾病。大多数报告的病例为男性，导致对DEX的认识主要局限于男性患者。本研究报告了3例来自3个不相关家族的儿童女性DEX患者，均为ELF4杂合突变（c.320_c.）。c.329delA和c.685a bbbbg)。与报道的男性DEX患者相似，主要临床特征为复发性口腔溃疡、腹痛和腹泻，结肠镜检查显示结肠溃疡。同时，新的和有效的治疗策略，如使用生物vedolizumab和独家肠内营养（EEN），为DEX的治疗提供了额外的选择。最后，我们在所有三名女性患者中观察到扭曲的X染色体失活模式，其中两名患者证实携带野生型等位基因的X染色体过度失活。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Clinical Immunology 医学-免疫学

CiteScore

12.20

自引率

9.90%

发文量

218

审稿时长

2 months

期刊介绍： The Journal of Clinical Immunology publishes impactful papers in the realm of human immunology, delving into the diagnosis, pathogenesis, prognosis, or treatment of human diseases. The journal places particular emphasis on primary immunodeficiencies and related diseases, encompassing inborn errors of immunity in a broad sense, their underlying genotypes, and diverse phenotypes. These phenotypes include infection, malignancy, allergy, auto-inflammation, and autoimmunity. We welcome a broad spectrum of studies in this domain, spanning genetic discovery, clinical description, immunologic assessment, diagnostic approaches, prognosis evaluation, and treatment interventions. Case reports are considered if they are genuinely original and accompanied by a concise review of the relevant medical literature, illustrating how the novel case study advances the field. The instructions to authors provide detailed guidance on the four categories of papers accepted by the journal.