Evidence map›Paper›PMID 42799887›Full record

ArticleHuman genetics2026

Clinical, immunological, and molecular characteristics of severe combined immune deficiency in China.

Feifan Xiao, Qinhua Zhou, Chenghao Wang, Haili Yao, Jia Hou, Bijun Sun, Wenjing Ying, Xiaoying Hui, Lipin Liu, Liangyan Zou and 9 more

Abstract read
PubMed Publisher
In one paragraph

Article in Human genetics, 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

19 authors.

Feifan XiaoDepartment of Clinical Immunology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China.
Qinhua ZhouDepartment of Clinical Immunology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China.
Chenghao WangDepartment of Clinical Immunology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China.
Haili YaoDepartment of Clinical Immunology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China.
Jia HouDepartment of Clinical Immunology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China.
Bijun SunDepartment of Clinical Immunology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China.
Wenjing YingDepartment of Clinical Immunology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China.
Xiaoying HuiDepartment of Clinical Immunology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China.
Lipin LiuDepartment of Clinical Immunology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China.
Liangyan ZouDepartment of Clinical Immunology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China.
Luyao LiuDepartment of Clinical Immunology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China.
Ying WangDepartment of Clinical Immunology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China.
Xiaowen QianDepartment of Hematology/Oncology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China.
Xiaowen ZhaiDepartment of Hematology/Oncology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China.
Bingbing WuCenter for Molecular Medicine, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China.
Wenhao ZhouKey Laboratory of Birth Defects, Children's Hospital of Fudan University, Shanghai, 201102, China.
Jinqiao SunDepartment of Clinical Immunology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China. jinqiaosun@fudan.edu.cn.
Wenjie WangDepartment of Clinical Immunology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China. amazingmm@163.com.
Xiaochuan WangDepartment of Clinical Immunology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China. xchwang@shmu.edu.cn.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Severe combined immunodeficiency (SCID) is an inborn error of immunity. The clinical and genetic characteristics of SCID remain poorly characterized in China. This study aimed to analyze the clinical, immunological, and molecular features of the largest cohort of SCID patients from a single center in China. This retrospective study was conducted at the Children's Hospital of Fudan University. Patients diagnosed with SCID between January 2013 and May 2025 were enrolled. A total of 148 patients were included. The mean age at disease onset was 10.7 months, while the mean age at diagnosis was 18.9 months. The most common clinical manifestations included pneumonia (95.3%), diarrhea (52.0%), and hepatomegaly (43.9%). Genetic testing was performed in 134 patients, among whom 121 received a genetic diagnosis, yielding a molecular diagnostic rate of 90.3% (121/134). Variants in 12 distinct genes were identified. The most frequently implicated genes were IL2RG (34.7%), RAG1 (22.3%), RAG2 (9.1%), and LIG4 (8.3%). These four genes accounted for 74.4% of the diagnosed cases. Among the 66 patients who underwent hematopoietic stem cell transplantation, the mortality rate was 36.1% (13/36) in the typical SCID group and 41.4% (12/29) in the atypical group. In conclusion, this study reports the largest cohort of SCID patients in China. Our analysis outlines the clinical, immunological, and genetic spectrum of the disease.

Indexed as

Severe Combined ImmunodeficiencyChild, PreschoolChinaDNA-Binding ProteinsDNA Ligase ATPFemaleGenetic TestingHematopoietic Stem Cell TransplantationHomeodomain ProteinsHumansInfantMaleMutationNuclear ProteinsRetrospective StudiesDNA-Binding ProteinsDNA Ligase ATPHomeodomain ProteinsNuclear ProteinsRAG-1 proteinRAG2 protein, human

Identifiers

PMID42799887

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.