Evidence map›Paper›PMID 42012563›Full record

ArticleJournal of clinical immunology2026

Antigen Microarray Reveals Broad and Subclinical Autoimmunity in Patients with Inborn Errors of Immunity.

Wenjun Zhang, Bijun Sun, Wenjie Wang, Ke Zhu, Qi Wu, Luyao Liu, Chenghao Wang, Feifan Xiao, Qinhua Zhou, Xiaochuan Wang and 1 more

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In one paragraph

Article in Journal of clinical 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.

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1 · What the graph read from it

What it found

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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

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3 · Its place in the literature

Who cites it

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4 · The record

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5 · Who and what money

Authors and funding

11 authors.

Wenjun Zhang *Department of Clinical Immunology, National Children Medical Center, Children's Hospital of Fudan University, Shanghai, 201102, China.
Bijun Sun *Department of Clinical Immunology, National Children Medical Center, Children's Hospital of Fudan University, Shanghai, 201102, China.
Wenjie Wang *Department of Clinical Immunology, National Children Medical Center, Children's Hospital of Fudan University, Shanghai, 201102, China.
Ke ZhuDepartment of Clinical Immunology, National Children Medical Center, Children's Hospital of Fudan University, Shanghai, 201102, China.
Qi WuDepartment of Clinical Immunology, National Children Medical Center, Children's Hospital of Fudan University, Shanghai, 201102, China.
Luyao LiuDepartment of Clinical Immunology, National Children Medical Center, Children's Hospital of Fudan University, Shanghai, 201102, China.
Chenghao WangDepartment of Clinical Immunology, National Children Medical Center, Children's Hospital of Fudan University, Shanghai, 201102, China.
Feifan XiaoDepartment of Clinical Immunology, National Children Medical Center, Children's Hospital of Fudan University, Shanghai, 201102, China.
Qinhua ZhouDepartment of Clinical Immunology, National Children Medical Center, Children's Hospital of Fudan University, Shanghai, 201102, China.
Xiaochuan WangDepartment of Clinical Immunology, National Children Medical Center, Children's Hospital of Fudan University, Shanghai, 201102, China.
Jinqiao SunDepartment of Clinical Immunology, National Children Medical Center, Children's Hospital of Fudan University, Shanghai, 201102, China. jinqiaosun@fudan.edu.cn.

Funding

National Key Research and Development Program of China 2022YFC2704905Shanghai Municipal Health Commission Talent Program 2022XD024
6 · The paper itself

Abstract

purposeThe inborn errors of immunity (IEIs) are a group of heterogeneous disorders. Although autoimmunity frequently coexists with IEIs, the manifestations vary greatly across different disorders. Most cases are recognized only after clinical symptoms emerge, impacting outcomes. However, limited research has been reported on how to achieve early identification. In this study, we aim to identify early or subclinical autoimmune reactivity and associated immunological patterns in patients with IEIs, and to explore differences among various IEI genotypes.

methodsThe clinical records and laboratory data of 26 patients were reviewed. Immunophenotypes were evaluated by multiparametric flow cytometry. Genetic findings were confirmed by whole-exome sequencing (WES). Autoantibodies were detected via antigen microarray analysis.

resultsWe focused on several types of inborn errors of immunity that are prone to autoimmune diseases including 5 CD40LG mutations, 4 RAG1/2 mutations, 1 IL2RG mutation, 1 DOCK8 mutation, 1 SH2D1A mutation, 1 FAS mutation, 1 FOXP3 mutation, 1 TNFAIP3 mutation, 6 STAT3 gain-of-function (GOF) mutations, 3 STAT3 loss-of-function (LOF) mutations, and 2 CTLA4 mutations. Approximately 31% had clinical autoimmune manifestations, while several asymptomatic patients showed elevated autoantibodies. Some patients exhibited broad IgG and/or IgM autoantibody profiles targeting nuclear, cell membrane, and organ-specific antigens, which were associated with certain clinical features or immune subsets, such as increased double-negative T (DNT) cells and marginal zone B (MZB) cells.

conclusionAntigen microarrays may enable early identification of autoimmune risk in IEI patients even before symptoms arise. Patients with genotypes such as STAT3 GOF were more likely to develop autoimmunity. The breadth of IgM autoantibodies correlated positively with MZB cell frequency, and higher DNT cell levels were significantly associated with clinical autoimmunity, suggesting potential utility for early risk stratification.

Indexed as

Autoimmune DiseasesAutoimmunityAdolescentAutoantibodiesChildChild, PreschoolExome SequencingFemaleGenetic Predisposition to DiseaseHumansImmunophenotypingInfantMaleMutationAutoantibodiesAntigen microarrayAutoimmunityDouble-negative T cellsInborn errors of immunityMarginal zone B cells

Identifiers

PMID42012563
PMCPMC13230254

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