Humans Severe Combined Immunodeficiency / genetics Animals Mice V(D)J Recombination / immunology Male Female Infant B-Lymphocytes / immunology Homeodomain Proteins / genetics T-Lymphocytes / immunology Child, Preschool Mutation, Missense

Journal

Science immunology
ISSN: 2470-9468
Titre abrégé: Sci Immunol
Pays: United States
ID NLM: 101688624

Informations de publication

Date de publication:
24 May 2024
Historique:
medline: 24 5 2024
pubmed: 24 5 2024
entrez: 24 5 2024
Statut: ppublish

Résumé

Inborn errors of T cell development present a pediatric emergency in which timely curative therapy is informed by molecular diagnosis. In 11 affected patients across four consanguineous kindreds, we detected homozygosity for a single deleterious missense variant in the gene NudC domain-containing 3 (

Identifiants

DOI: 10.1126/sciimmunol.ade5705 PMID: 38787962
pubmed: 38787962
doi: 10.1126/sciimmunol.ade5705
doi:

Substances chimiques

RAG-1 protein 128559-51-3
Homeodomain Proteins 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

eade5705

Auteurs

Rui Chen (R)

Translational and Clinical Research Institute, Newcastle University, NE2 4HH Newcastle upon Tyne, UK.
ORCID: 0000-0003-2887-2751

Elena Lukianova (E)

Wellcome Sanger Institute, Wellcome Genome Campus, CB10 1SA Hinxton, UK.
ORCID: 0000-0003-3566-5873

Ina Schim van der Loeff (IS)

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.
ORCID: 0000-0003-1196-6196

Jarmila Stremenova Spegarova (JS)

Translational and Clinical Research Institute, Newcastle University, NE2 4HH Newcastle upon Tyne, UK.
ORCID: 0000-0002-0710-9266

Joseph D P Willet (JDP)

Translational and Clinical Research Institute, Newcastle University, NE2 4HH Newcastle upon Tyne, UK.

Kieran D James (KD)

Institute of Immunology and Immunotherapy, University of Birmingham. B15 2TT Birmingham, UK.
ORCID: 0000-0001-8811-6996

Edward J Ryder (EJ)

Wellcome Sanger Institute, Wellcome Genome Campus, CB10 1SA Hinxton, UK.
ORCID: 0000-0002-1799-9899

Helen Griffin (H)

Translational and Clinical Research Institute, Newcastle University, NE2 4HH Newcastle upon Tyne, UK.
ORCID: 0000-0002-5288-3322

Hanna IJspeert (H)

Department of Immunology, Erasmus University Medical Center, Rotterdam 3000 CA, Netherlands.

Akshada Gajbhiye (A)

Biosciences Institute, Newcastle University, NE2 4HH Newcastle upon Tyne, UK.
ORCID: 0000-0002-6525-7603

Frederic Lamoliatte (F)

Biosciences Institute, Newcastle University, NE2 4HH Newcastle upon Tyne, UK.

Jose L Marin-Rubio (JL)

Biosciences Institute, Newcastle University, NE2 4HH Newcastle upon Tyne, UK.
ORCID: 0000-0002-7682-0190

Lisa Woodbine (L)

Genome Damage and Stability Centre, University of Sussex, BN1 9RQ Brighton, UK.

Henrique Lemos (H)

Translational and Clinical Research Institute, Newcastle University, NE2 4HH Newcastle upon Tyne, UK.

David J Swan (DJ)

Translational and Clinical Research Institute, Newcastle University, NE2 4HH Newcastle upon Tyne, UK.

Valeria Pintar (V)

Translational and Clinical Research Institute, Newcastle University, NE2 4HH Newcastle upon Tyne, UK.
ORCID: 0009-0003-1591-4075

Kamal Sayes (K)

Translational and Clinical Research Institute, Newcastle University, NE2 4HH Newcastle upon Tyne, UK.

Elias R Ruiz-Morales (ER)

Wellcome Sanger Institute, Wellcome Genome Campus, CB10 1SA Hinxton, UK.
ORCID: 0000-0002-5801-6190

Simon Eastham (S)

Wellcome Sanger Institute, Wellcome Genome Campus, CB10 1SA Hinxton, UK.

David Dixon (D)

Biosciences Institute, Newcastle University, NE2 4HH Newcastle upon Tyne, UK.
ORCID: 0000-0002-5904-9074

Martin Prete (M)

Wellcome Sanger Institute, Wellcome Genome Campus, CB10 1SA Hinxton, UK.
ORCID: 0000-0002-5946-821X

Elena Prigmore (E)

Wellcome Sanger Institute, Wellcome Genome Campus, CB10 1SA Hinxton, UK.
ORCID: 0000-0001-8870-0316

Penny Jeggo (P)

Genome Damage and Stability Centre, University of Sussex, BN1 9RQ Brighton, UK.

Joan Boyes (J)

Faculty of Biological Sciences, University of Leeds, LS2 9JT Leeds, UK.
ORCID: 0000-0002-8705-9827

Andrew Mellor (A)

Translational and Clinical Research Institute, Newcastle University, NE2 4HH Newcastle upon Tyne, UK.
ORCID: 0000-0002-9553-6160

Lei Huang (L)

Translational and Clinical Research Institute, Newcastle University, NE2 4HH Newcastle upon Tyne, UK.
ORCID: 0000-0002-1996-944X

Mirjam van der Burg (M)

Department of Immunology, Erasmus University Medical Center, Rotterdam 3000 CA, Netherlands.
ORCID: 0000-0002-1510-3104

Karin R Engelhardt (KR)

Translational and Clinical Research Institute, Newcastle University, NE2 4HH Newcastle upon Tyne, UK.
ORCID: 0000-0001-8513-9682

Asbjørg Stray-Pedersen (A)

Norwegian National Unit for Newborn Screening, Division of Pediatric and Adolescent Medicine, Oslo University Hospital, Oslo 0424, Norway.
ORCID: 0000-0002-9168-0878

Hans Christian Erichsen (HC)

Division of Pediatric and Adolescent Medicine, Oslo University Hospital and Institute of Clinical Medicine, University of Oslo, Oslo 0424, Norway.

Andrew R Gennery (AR)

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.
ORCID: 0000-0002-6218-1324

Matthias Trost (M)

Biosciences Institute, Newcastle University, NE2 4HH Newcastle upon Tyne, UK.
ORCID: 0000-0002-5732-700X

David J Adams (DJ)

Wellcome Sanger Institute, Wellcome Genome Campus, CB10 1SA Hinxton, UK.
ORCID: 0000-0001-9490-0306

Graham Anderson (G)

Institute of Immunology and Immunotherapy, University of Birmingham. B15 2TT Birmingham, UK.
ORCID: 0000-0002-2917-4085

Anna Lorenc (A)

Wellcome Sanger Institute, Wellcome Genome Campus, CB10 1SA Hinxton, UK.
ORCID: 0000-0002-1406-7607

Gosia Trynka (G)

Wellcome Sanger Institute, Wellcome Genome Campus, CB10 1SA Hinxton, UK.
Open Targets, Wellcome Genome Campus, CB10 1SA Hinxton, UK.
ORCID: 0000-0002-6955-9529

Sophie Hambleton (S)

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.
ORCID: 0000-0001-7954-3267

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains ›
questionsmedicales.fr › Maladies du système immunitaire › Déficits immunitaires › Maladies d'immunodéficience primaire › Immunodéficience combinée grave ›
questionsmedicales.fr › Eucaryotes › Animaux ›
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris ›
questionsmedicales.fr › Phénomènes génétiques › Recombinaison génétique › Recombinaison V(D)J ›
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson ›
questionsmedicales.fr › Systèmes sanguin et immunitaire › Système immunitaire › Leucocytes › Agranulocytes › Lymphocytes › Lymphocytes B ›
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines de liaison à l'ADN › Protéines à homéodomaine ›
questionsmedicales.fr › Systèmes sanguin et immunitaire › Système immunitaire › Leucocytes › Agranulocytes › Lymphocytes › Lymphocytes T ›
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Enfant d'âge préscolaire ›
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation faux-sens ›