Evidence map›Paper›PMID 38775840›Full record

ArticleJournal of clinical immunology2024

A Novel Homozygous RHOH Variant Associated with T Cell Dysfunction and Recurrent Opportunistic Infections.

Jingyu Zhou, Mengqing Qian, Ning Jiang, Jing Wu, Xiaoqian Feng, Meiping Yu, Qing Min, Haoxin Xu, Yixuan Yang, Qingluan Yang and 7 more

Abstract readCase Reports
PubMed Publisher
In one paragraph

Article in Journal of clinical immunology, 2024. 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

17 authors.

Jingyu Zhou *Department of Infectious Diseases, Shanghai Key Laboratory of Infectious Diseases and Biosafety Emergency Response, National Medical Center for Infectious Diseases, Huashan Hospital, Shanghai Medical College, Fudan University, 12 M. Wulumuqi Road, Shanghai, 200040, China.
Mengqing Qian *Department of Infectious Diseases, Shanghai Key Laboratory of Infectious Diseases and Biosafety Emergency Response, National Medical Center for Infectious Diseases, Huashan Hospital, Shanghai Medical College, Fudan University, 12 M. Wulumuqi Road, Shanghai, 200040, China.
Ning Jiang *Department of Infectious Diseases, Shanghai Key Laboratory of Infectious Diseases and Biosafety Emergency Response, National Medical Center for Infectious Diseases, Huashan Hospital, Shanghai Medical College, Fudan University, 12 M. Wulumuqi Road, Shanghai, 200040, China.
Jing Wu *Department of Infectious Diseases, Shanghai Key Laboratory of Infectious Diseases and Biosafety Emergency Response, National Medical Center for Infectious Diseases, Huashan Hospital, Shanghai Medical College, Fudan University, 12 M. Wulumuqi Road, Shanghai, 200040, China.
Xiaoqian FengDepartment of Immunology, School of Basic Medical Sciences, Fudan University, Room 921, West #13 building, 130 Dong'an road, Shanghai, 200032, China.
Meiping YuDepartment of Clinical Immunology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Qing MinDepartment of Clinical Immunology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Haoxin XuDepartment of Infectious Diseases, Shanghai Key Laboratory of Infectious Diseases and Biosafety Emergency Response, National Medical Center for Infectious Diseases, Huashan Hospital, Shanghai Medical College, Fudan University, 12 M. Wulumuqi Road, Shanghai, 200040, China.
Yixuan YangDepartment of Infectious Diseases, Shanghai Key Laboratory of Infectious Diseases and Biosafety Emergency Response, National Medical Center for Infectious Diseases, Huashan Hospital, Shanghai Medical College, Fudan University, 12 M. Wulumuqi Road, Shanghai, 200040, China.
Qingluan YangDepartment of Infectious Diseases, Shanghai Key Laboratory of Infectious Diseases and Biosafety Emergency Response, National Medical Center for Infectious Diseases, Huashan Hospital, Shanghai Medical College, Fudan University, 12 M. Wulumuqi Road, Shanghai, 200040, China.
Feiran ZhouDepartment of Infectious Diseases, Shanghai Key Laboratory of Infectious Diseases and Biosafety Emergency Response, National Medical Center for Infectious Diseases, Huashan Hospital, Shanghai Medical College, Fudan University, 12 M. Wulumuqi Road, Shanghai, 200040, China.
Lingyun ShaoDepartment of Infectious Diseases, Shanghai Key Laboratory of Infectious Diseases and Biosafety Emergency Response, National Medical Center for Infectious Diseases, Huashan Hospital, Shanghai Medical College, Fudan University, 12 M. Wulumuqi Road, Shanghai, 200040, China.
Haoxiang ZhuDepartment of Infectious Diseases, Shanghai Key Laboratory of Infectious Diseases and Biosafety Emergency Response, National Medical Center for Infectious Diseases, Huashan Hospital, Shanghai Medical College, Fudan University, 12 M. Wulumuqi Road, Shanghai, 200040, China.
Yun YangDepartment of Infectious Diseases and Hepatic Diseases, the First People's Hospital of Yunnan Province, Yunnan, 650034, China.
Ji-Yang WangDepartment of Immunology, School of Basic Medical Sciences, Fudan University, Room 921, West #13 building, 130 Dong'an road, Shanghai, 200032, China. wang@fudan.edu.cn.
Qiaoling RuanDepartment of Infectious Diseases, Shanghai Key Laboratory of Infectious Diseases and Biosafety Emergency Response, National Medical Center for Infectious Diseases, Huashan Hospital, Shanghai Medical College, Fudan University, 12 M. Wulumuqi Road, Shanghai, 200040, China. qlruan07@fudan.edu.cn.
Wenhong ZhangDepartment of Infectious Diseases, Shanghai Key Laboratory of Infectious Diseases and Biosafety Emergency Response, National Medical Center for Infectious Diseases, Huashan Hospital, Shanghai Medical College, Fudan University, 12 M. Wulumuqi Road, Shanghai, 200040, China.

Funding

National Natural Science Foundation of China 32330033National Natural Science Foundation of China 82271794
6 · The paper itself

Abstract

RHOH, an atypical small GTPase predominantly expressed in hematopoietic cells, plays a vital role in immune function. A deficiency in RHOH has been linked to epidermodysplasia verruciformis, lung disease, Burkitt lymphoma and T cell defects. Here, we report a novel germline homozygous RHOH c.245G > A (p.Cys82Tyr) variant in a 21-year-old male suffering from recurrent, invasive, opportunistic infections affecting the lungs, eyes, and brain. His sister also succumbed to a lung infection during early adulthood. The patient exhibited a persistent decrease in CD4

Indexed as

HomozygoteOpportunistic InfectionsHumansJurkat CellsLymphocyte ActivationMalePedigreeReceptors, Antigen, T-CellRecurrenceT-LymphocytesYoung AdultZAP-70 Protein-Tyrosine KinaseReceptors, Antigen, T-CellZAP-70 Protein-Tyrosine KinaseOpportunistic infectionPrimary immunodeficiencyRHOHT cellTCR signaling

Identifiers

PMID38775840

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.