Evidence map›Paper›PMID 42327742›Full record

ArticleFrontiers in immunology2026

Rui Gan, Guangzhao Li, Lina Zhou, Li Wang, Rongxin Dai, Xuemei Tang, Junfeng Wu, Yanjun Jia, Qing Zhou, Xiaodong Zhao and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in immunology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

11 authors.

Rui Gan *Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Children and Adolescents' Health and Diseases, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China.
Guangzhao Li *Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Children and Adolescents' Health and Diseases, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China.
Lina ZhouChongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Children and Adolescents' Health and Diseases, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China.
Li WangDepartment of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Children and Adolescents' Health and Diseases, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China.
Rongxin DaiDepartment of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Children and Adolescents' Health and Diseases, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China.
Xuemei TangDepartment of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Children and Adolescents' Health and Diseases, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China.
Junfeng WuDepartment of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Children and Adolescents' Health and Diseases, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China.
Yanjun JiaChongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Children and Adolescents' Health and Diseases, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China.
Qing ZhouLife Sciences Institute, Zhejiang University, Hangzhou, China.
Xiaodong ZhaoDepartment of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Children and Adolescents' Health and Diseases, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China.
Yunfei AnDepartment of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Children and Adolescents' Health and Diseases, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Germline monoallelic gain-of-function (GOF) variants in Methods: We studied four unrelated patients with Results: Clinical severity ranged from recurrent sinopulmonary infections onset in adolescence to severe infantile multisystem disease with bacterial, fungal, and opportunistic infections. All patients exhibited ectodermal abnormalities, and one had autoantibodies. Despite marked clinical heterogeneity, all four patients showed a qualitatively convergent lymphocyte phenotype characterized by expanded naïve T-cell and B-cell compartments and reduced memory and effector subsets. PHA-induced CD4 Conclusion: These findings broaden the clinical and genotypic spectrum of N-terminal IκBα GOF disease, identify a consistent immune phenotype characterized by expanded naïve and contracted memory lymphocyte compartments, and support defective regulated IκBα degradation and impaired lymphocyte maturation as shared features of N-terminal IκBα GOF disease.

Indexed as

Immunologic Deficiency SyndromesNF-KappaB Inhibitor alphaAdolescentB-LymphocytesChildChild, PreschoolEctodermal DysplasiaFemaleGain of Function MutationHEK293 CellsHumansImmunophenotypingInfantMalePhenotypeNF-KappaB Inhibitor alphaNFKBIA protein, humanectodermal dysplasia with immunodeficiencyinborn errors of immunityIκBαNFKBIANF-κB

Identifiers

PMID42327742
PMCPMC13278860

What OpenQuestion holds

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Registered trials

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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.