Evidence map›Paper›PMID 39976696›Full record

ArticleJournal of clinical immunology2025

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

Rongtao Zhao, Zhuo Zhang, Shiyue Mei, Li Sun, Qianlu Zhang, Qianying Lv, Fang Zhou, Gan Sun, Lina Zhou, Xuemei Tang and 4 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of clinical immunology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Clinical manifestations of Armfield syndrome in females with heterozygous FAM50A variants and skewed X-chromosome inactivation.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026
    Article
  2. A truncatingFrontiers in immunology · 2026
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors.

Rongtao Zhao *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 Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China.
Zhuo Zhang *Department of Gastroenterology, Children's Hospital of Nanjing Medical University, Nanjing, China.
Shiyue Mei *Henan Key Laboratory of Children's Genetics and Metabolic Diseases, Department of Gastroenterology, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou, China.
Li Sun *Department of Rheumatology, Children's Hospital of Fudan University, National Pediatric Medical Center of China, (Shanghai), China.
Qianlu Zhang *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 Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China.
Qianying LvDepartment of Rheumatology, Children's Hospital of Fudan University, National Pediatric Medical Center of China, (Shanghai), China.
Fang ZhouHenan Key Laboratory of Children's Genetics and Metabolic Diseases, Department of Gastroenterology, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou, China.
Gan SunDepartment 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 Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China.
Lina ZhouDepartment 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 Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China.
Xuemei TangDepartment 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 Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China.
Yunfei AnDepartment 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 Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China.
Zhifeng LiuDepartment of Gastroenterology, Children's Hospital of Nanjing Medical University, Nanjing, China. liu8917@163.com.
Xiaodong ZhaoDepartment 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 Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China. zhaoxd530@aliyun.com.
Hongqiang DuDepartment 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 Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China. doctordo@aliyun.com.

Funding

Chongqing High-End Medical Talent Program for Young and Middle-Aged Professionals YXGD202422CQMU Program for Youth Innovation in Future Medicine W0100Henan Medical Education Research Project Wjlx2022148National Natural Science Foundation of China 81701125National Natural Science Foundation of China 82101908National Natural Science Foundation of China 82371823
6 · The paper itself

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.

Indexed as

DNA-Binding ProteinsGenetic Diseases, X-LinkedX Chromosome InactivationChildChromosomes, Human, XFemaleHumansMutationPedigreeDNA-Binding ProteinsAutoinflammatory diseaseELF4 deficiencyFemale carrierInborn errors of immunitySkewed X chromosome inactivation

Identifiers

PMID39976696
PMCPMC11842529

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.