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

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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Publication Details

Journal
Journal of Clinical Immunology
Published
2025-02-20
DOI
https://doi.org/10.1007/s10875-025-01866-2
Citations
2
Primary Topic
Genetics and Neurodevelopmental Disorders
Type
article
Field-Weighted Citation Impact
3.63

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article

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

Shiyue Mei, Gan Sun, Lina Zhou, Fang Zhou et al.
2 citations
Journal of Clinical Immunology
Genetics and Neurodevelopmental Disorders
3.63
article

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

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

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.

Journal of Clinical ImmunologyVol. 45(1)
Zhengzhou University (CN), Nanjing Children's Hospital (CN), Zhengzhou Children's Hospital (CN), Second Affiliated Hospital of Nanjing Medical University (CN), Children's Hospital of Fudan University (CN), Children's Hospital of Chongqing Medical University (CN), Nanjing Medical University (CN), Chongqing Medical University (CN)
National Natural Science Foundation of China, Chongqing Medical University, Nanjing Medical University
Zero hunger
Openalex Percentile: Top 9%
Genetics and Neurodevelopmental Disorders
3.63
DOIOpen Access PDFOpenAlex
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