Evidence map›Paper›PMID 40751765›Full record

ArticleJournal of clinical immunology2025

A Novel R140S γc Variant Alters Cellular Distribution, Reduces Surface Expression, and Impairs Cytokine Signaling in Atypical X-SCID.

Lulu Dong, Bijun Sun, Qing Min, Xin Meng, Yaxuan Li, Meiping Yu, Zichao Wen, Xuzhe Wu, Ziying Hu, Runyun Zhang and 10 more

Abstract read
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In one paragraph

Article in Journal of clinical immunology, 2025. 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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0citing papers 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

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4 · The record

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5 · Who and what money

Authors and funding

20 authors.

Lulu Dong *Department of Immunology, School of Basic Medical Sciences, Fudan University, Shanghai, 200032, China.
Bijun Sun *Department of Clinical Immunology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Qing MinShanghai Sci-Tech Inno Center for Infection & Immunity, Shanghai, 200052, China.
Xin MengDepartment of Infectious Diseases, Huashan Hospital, Fudan University, Shanghai, China.
Yaxuan LiDepartment of Immunology, School of Basic Medical Sciences, Fudan University, Shanghai, 200032, China.
Meiping YuDepartment of Clinical Immunology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Zichao WenDepartment of Immunology, School of Basic Medical Sciences, Fudan University, Shanghai, 200032, China.
Xuzhe WuDepartment of Immunology, School of Basic Medical Sciences, Fudan University, Shanghai, 200032, China.
Ziying HuDepartment of Microbiology and Immunology, College of Basic Medical Sciences, Zhengzhou University, Zhengzhou, China.
Runyun ZhangDepartment of Immunology, School of Basic Medical Sciences, Fudan University, Shanghai, 200032, China.
Xiaoqian FengState Key Laboratory of Genetic Engineering, Shanghai Institute of Infectious Disease and Biosecurity, School of Life Sciences, Fudan University, Shanghai, China.
Yingying LuanDepartment of Immunology, School of Basic Medical Sciences, Fudan University, Shanghai, 200032, China.
Chunhui LuDepartment of Immunology, School of Basic Medical Sciences, Fudan University, Shanghai, 200032, China.
Wenjie WangDepartment of Clinical Immunology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Xiaoying HuiDepartment of Clinical Immunology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Jia HouDepartment of Clinical Immunology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Jinqiao SunDepartment of Clinical Immunology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Shen CaiLaboratory of Medical Molecular Virology (MOE/NHC/CAMS), SBMS, SHMC of Fudan University, Shanghai, China.
Xiaochuan WangDepartment of Clinical Immunology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China. xchwang@shmu.edu.cn.
Ji-Yang WangDepartment of Immunology, School of Basic Medical Sciences, Fudan University, Shanghai, 200032, China. wang@fudan.edu.cn.

Funding

Major Research Plan of the National Natural Science Foundation of China 32330033the National Natural Science Foundation for Young Scholar 82202013; 82402110the National Natural Science Foundation of China 32270932
6 · The paper itself

Abstract

The interleukin-2 receptor γ (IL-2Rγ, or γc) is a crucial component of several cytokine receptor complexes. Deficiencies in γc lead to X-linked severe combined immunodeficiency (X-SCID), characterized by recurrent infections due to the absence or dysfunction of T and NK cells, and nonfunctional B cells. Missense variants in the γc extracellular region are linked to atypical X-SCID with normal counts of T, B, and NK cells and less severe symptoms, yet the underlying cellular and molecular mechanisms are not well understood. This study describes a case of atypical X-SCID with a missense variant (c.420 A > T, p.R140S) in the γc extracellular domain, associated with recurrent bacterial, fungal, and viral infections. We found that the R140S variant leads to reduced surface expression and variably affects cytokine receptor signaling. Specifically, STAT5 phosphorylation and proliferation in CD4

Indexed as

CytokinesInterleukin Receptor Common gamma SubunitSignal TransductionX-Linked Combined Immunodeficiency DiseasesHumansMaleMutation, MissensePhosphorylationSTAT5 Transcription FactorCytokinesIL2RG protein, humanInterleukin Receptor Common gamma SubunitSTAT5 Transcription FactorCommon γ chainCytokine receptor signalingInborn errors of immunityLymphocyte activationX-SCID

Identifiers

PMID40751765
PMCPMC12317921

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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.