Evidence map›Paper›PMID 37831401›Full record

ArticleJournal of clinical immunology2023

An Atypical Incontinentia Pigmenti Female with Persistent Mucocutaneous Hyperinflammation and Immunodeficiency Caused by a Novel Germline IKBKG Missense Mutation.

Wenjun Mou, Zhipeng Zhao, Liwei Gao, Libing Fu, Jia Li, Anxia Jiao, Yun Peng, Tong Yu, Yan Guo, Lanqin Chen and 7 more

Abstract readCase Reports
PubMed Publisher
In one paragraph

Article in Journal of clinical immunology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.9field-weighted citation impact, top 13% of its field
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

6 citing papers in PubMed, 6 citations in OpenAlex.

  1. Review
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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

17 authors at 1 institution in 1 country.

Wenjun MouLaboratory of Tumor Immunology, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China.
Zhipeng ZhaoDepartment of Pulmonology, Beijing Children's Hospital, Capital Medical University, National Clinical Research Center of Respiratory Diseases, National Center for Children's Health, Beijing, 100045, China.
Liwei GaoDepartment of Pulmonology, Beijing Children's Hospital, Capital Medical University, National Clinical Research Center of Respiratory Diseases, National Center for Children's Health, Beijing, 100045, China.
Libing FuDepartment of Pathology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China.
Jia LiDepartment of Pathology, Beijing Tiantan Hospital, Capital Medical University, Beijing, 100070, China.
Anxia JiaoDepartment of Interventional Pulmonology, Beijing Children's Hospital, Capital Medical University, National Clinical Research Center of Respiratory Diseases, National Center for Children's Health, Beijing, 100045, China.
Yun PengDepartment of Radiology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China.
Tong YuDepartment of Radiology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China.
Yan GuoDepartment of Pulmonology, Beijing Children's Hospital, Capital Medical University, National Clinical Research Center of Respiratory Diseases, National Center for Children's Health, Beijing, 100045, China.
Lanqin ChenDepartment of Pulmonology, Beijing Children's Hospital, Capital Medical University, National Clinical Research Center of Respiratory Diseases, National Center for Children's Health, Beijing, 100045, China.
Hao WangDepartment of Pulmonology, Beijing Children's Hospital, Capital Medical University, National Clinical Research Center of Respiratory Diseases, National Center for Children's Health, Beijing, 100045, China.
Jun LiuDepartment of Pulmonology, Beijing Children's Hospital, Capital Medical University, National Clinical Research Center of Respiratory Diseases, National Center for Children's Health, Beijing, 100045, China.
Qiang QinDepartment of Pulmonology, Beijing Children's Hospital, Capital Medical University, National Clinical Research Center of Respiratory Diseases, National Center for Children's Health, Beijing, 100045, China.
Baoping XuDepartment of Pulmonology, Beijing Children's Hospital, Capital Medical University, National Clinical Research Center of Respiratory Diseases, National Center for Children's Health, Beijing, 100045, China.
Xiuyun LiuDepartment of Pulmonology, Beijing Children's Hospital, Capital Medical University, National Clinical Research Center of Respiratory Diseases, National Center for Children's Health, Beijing, 100045, China. liuxiu_yun@126.com.
Jianxin HeDepartment of Pulmonology, Beijing Children's Hospital, Capital Medical University, National Clinical Research Center of Respiratory Diseases, National Center for Children's Health, Beijing, 100045, China. hejianxin1970@126.com.
Jingang GuiLaboratory of Tumor Immunology, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China. guijingang@bch.com.cn.ORCID http://orcid.org/0000-0003-3431-8749
Capital Medical University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

While most missense mutations of the IKBKG gene typically result in Ectodermal Dysplasia with Immunodeficiency, there have been rare reported instances of missense mutations of the IKBKG gene causing both Incontinentia Pigmenti (IP) and immunodeficiency in female patients. In this study, we described an atypical IP case in a 19-year-old girl, characterized by hyperpigmented and verrucous skin areas over the entire body. Remarkably, she experienced recurrent red papules whenever she had a feverish upper respiratory tract infection. Immunohistochemical staining unveiled a substantial accumulation of CD68

Indexed as

Immunologic Deficiency SyndromesIncontinentia PigmentiChildFemaleHEK293 CellsHumansI-kappa B KinaseLeukocytes, MononuclearLipopolysaccharidesMutation, MissenseTumor Necrosis Factor-alphaYoung AdultI-kappa B KinaseIKBKG protein, humanLipopolysaccharidesTumor Necrosis Factor-alphaCytokines and chemokinesImmunodeficiencyIncontinentia PignentiMucocutaneous hyperinflammationX-chromosome inactivation

Identifiers

PMID37831401
OpenAlexW4387597910

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.