第一单位：
Translational and Clinical Research Institute, Newcastle University, NE2 4HH Newcastle upon Tyne, UK.
作者：
Rui,Chen [1]
;
Elena,Lukianova [2]
;
Ina Schim,van der Loeff [3]
;
Jarmila Stremenova,Spegarova [1]
;
Joseph D P,Willet [1]
;
Kieran D,James [4]
;
Edward J,Ryder [2]
;
Helen,Griffin [1]
;
Hanna,IJspeert [5]
;
Akshada,Gajbhiye [6]
;
Frederic,Lamoliatte [6]
;
Jose L,Marin-Rubio [6]
;
Lisa,Woodbine [7]
;
Henrique,Lemos [1]
;
David J,Swan [1]
;
Valeria,Pintar [1]
;
Kamal,Sayes [1]
;
Elias R,Ruiz-Morales [2]
;
Simon,Eastham [2]
;
David,Dixon [6]
;
Martin,Prete [2]
;
Elena,Prigmore [2]
;
Penny,Jeggo [7]
;
Joan,Boyes [8]
;
Andrew,Mellor [1]
;
Lei,Huang [1]
;
Mirjam,van der Burg [5]
;
Karin R,Engelhardt [1]
;
Asbjørg,Stray-Pedersen [9]
;
Hans Christian,Erichsen [10]
;
Andrew R,Gennery [3]
;
Matthias,Trost [6]
;
David J,Adams [2]
;
Graham,Anderson [4]
;
Anna,Lorenc [2]
;
Gosia,Trynka [11]
;
Sophie,Hambleton [3]
作者单位：
Translational and Clinical Research Institute, Newcastle University, NE2 4HH Newcastle upon Tyne, UK.
[1]
Wellcome Sanger Institute, Wellcome Genome Campus, CB10 1SA Hinxton, UK.
[2]
Translational and Clinical Research Institute, Newcastle University, NE2 4HH Newcastle upon Tyne, UK.;Great North Children's Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, NE1 4LP Newcastle upon Tyne, UK.
[3]
Institute of Immunology and Immunotherapy, University of Birmingham. B15 2TT Birmingham, UK.
[4]
Department of Immunology, Erasmus University Medical Center, Rotterdam 3000 CA, Netherlands.
[5]
Biosciences Institute, Newcastle University, NE2 4HH Newcastle upon Tyne, UK.
[6]
Genome Damage and Stability Centre, University of Sussex, BN1 9RQ Brighton, UK.
[7]
Faculty of Biological Sciences, University of Leeds, LS2 9JT Leeds, UK.
[8]
Norwegian National Unit for Newborn Screening, Division of Pediatric and Adolescent Medicine, Oslo University Hospital, Oslo 0424, Norway.
[9]
Division of Pediatric and Adolescent Medicine, Oslo University Hospital and Institute of Clinical Medicine, University of Oslo, Oslo 0424, Norway.
[10]
Wellcome Sanger Institute, Wellcome Genome Campus, CB10 1SA Hinxton, UK.;Open Targets, Wellcome Genome Campus, CB10 1SA Hinxton, UK.
[11]
主题词
近亲(Consanguinity);磷蛋白类(Phosphoproteins);重症联合免疫缺陷(Severe Combined Immunodeficiency);纯合子(Homozygote);突变, 误义(Mutation, Missense);T淋巴细胞(T-Lymphocytes);B-淋巴细胞(B-Lymphocytes);同源盒结构域蛋白质类(Homeodomain Proteins);细胞核仁(Cell Nucleolus);疾病模型, 动物(Disease Models, Animal);系谱(Pedigree);细胞系(Cell Line);小鼠, 近交C57BL(Mice, Inbred C57BL);小鼠, 转基因(Mice, Transgenic);人类(Humans);男(雄)性(Male);女(雌)性(Female);婴儿, 新生(Infant, Newborn);婴儿(Infant);动物(Animals);小鼠(Mice)
DOI
10.1126/sciimmunol.ade5705
PMID
38787962
发布时间
2025-03-21
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