Evidence map›Paper›PMID 36776842›Full record

ArticleFrontiers in immunology2023

Clinical and immunological features of an APLAID patient caused by a novel mutation in

Qi Peng, Dong Luo, Yi Yang, Yinghua Zhu, Qingming Luo, Huan Chen, Dapeng Chen, Zhongjun Zhou, Xiaomei Lu

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in immunology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.4field-weighted citation impact, top 17% 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

4 citing papers in PubMed, 6 citations in OpenAlex.

  1. Review
  2. Article
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  4. Review
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

9 authors at 4 institutions in 2 countries.

Qi PengDepartment of Genetic Medicine, Dongguan Children's Hospital Affiliated to Guangdong Medical University, Dongguan, China.
Dong LuoDepartment of Genetic Medicine, Dongguan Children's Hospital Affiliated to Guangdong Medical University, Dongguan, China.
Yi YangDepartment of Medical and Molecular Genetics, Dongguan Institute of Pediatrics, Dongguan, China.
Yinghua ZhuDepartment of Genetic Medicine, Dongguan Children's Hospital Affiliated to Guangdong Medical University, Dongguan, China.
Qingming LuoDepartment of Medical and Molecular Genetics, Dongguan Institute of Pediatrics, Dongguan, China.
Huan ChenDepartment of Gastroenterology, Guangzhou Women and Children' s Medical Center, Guangzhou, China.
Dapeng ChenCompartive Medicine Department of Researching and Teaching, Dalian Medical University, Dalian, China.
Zhongjun ZhouFaculty of Medicine, School of Biomedical Sciences, The University of Hong Kong, Hong Kong, Hong Kong SAR, China.
Xiaomei LuDepartment of Genetic Medicine, Dongguan Children's Hospital Affiliated to Guangdong Medical University, Dongguan, China.
Dongguan People’s Hospital · CNDalian Medical University · CNGuangzhou Women and Children Medical Center · CNUniversity of Hong Kong · HK

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: The APLAID syndrome is a rare primary immunodeficiency caused by gain-of-function mutations in the Methods: To determine the genetic cause of our patient, WES and bioinformatics analysis were performed. Flow cytometry was used for phenotyping immune cell populations in peripheral blood. Cytokines released into plasma were analyzed using protein chip technology. The PBMCs of patient and a healthy child were subjected to single-cell RNA-sequencing analysis. Results: The patient carried a novel Conclusions: We present the first case of APLAID with severely reduced myeloid dendritic cells carrying a novel

Indexed as

Autoimmune DiseasesInflammatory Bowel DiseasesChildHumansMutationPhospholipase C gammaSyndromePhospholipase C gammaAPLAIDautoinflammation diseaseNGSphospholipase Cγ2PLCG2

Identifiers

PMID36776842
PMCPMC9911665
OpenAlexW4318200411

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.