A deep intronic splice-altering

Humans AIRE Protein Polyendocrinopathies, Autoimmune / genetics Transcription Factors / genetics Oligonucleotides, Antisense Introns / genetics Female Exons / genetics Male RNA Splicing / genetics Adult Child Adolescent Pedigree Cell Line Base Sequence Mutation / genetics

Journal

Science translational medicine
ISSN: 1946-6242
Titre abrégé: Sci Transl Med
Pays: United States
ID NLM: 101505086

Informations de publication

Date de publication:
18 Sep 2024
Historique:
medline: 18 9 2024
pubmed: 18 9 2024
entrez: 18 9 2024
Statut: ppublish

Résumé

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a life-threatening monogenic autoimmune disorder primarily caused by biallelic deleterious variants in the autoimmune regulator (

Identifiants

DOI: 10.1126/scitranslmed.adk0845 PMID: 39292801
pubmed: 39292801
doi: 10.1126/scitranslmed.adk0845
doi:

Substances chimiques

AIRE Protein 0
Transcription Factors 0
Oligonucleotides, Antisense 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

eadk0845

Auteurs

Sebastian Ochoa (S)

Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA.
ORCID: 0000-0001-6334-110X

Amy P Hsu (AP)

Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA.
ORCID: 0000-0001-6841-2122

Andrew J Oler (AJ)

Bioinformatics and Computational Biosciences Branch, Office of Cyber Infrastructure and Computational Biology, NIAID, NIH, Bethesda, MD 20892, USA.
ORCID: 0000-0002-6310-0434

Dhaneshwar Kumar (D)

Immunoregulation Section, Kidney Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, MD 20892, USA.
ORCID: 0000-0003-3307-3065

Daniel Chauss (D)

Immunoregulation Section, Kidney Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, MD 20892, USA.
ORCID: 0000-0002-8343-0860

Jan Piet van Hamburg (JP)

Departments of Rheumatology and Clinical Immunology and Experimental Immunology, Amsterdam UMC, University of Amsterdam, Amsterdam, 1105 AZ, Netherlands.
ORCID: 0000-0002-6760-4648

Gustaaf G van Laar (GG)

Departments of Rheumatology and Clinical Immunology and Experimental Immunology, Amsterdam UMC, University of Amsterdam, Amsterdam, 1105 AZ, Netherlands.
ORCID: 0000-0002-3065-1002

Vasileios Oikonomou (V)

Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA.
ORCID: 0000-0002-7553-0159

Sundar Ganesan (S)

Biological Imaging Section, Research Technologies Branch, NIAID, NIH, Bethesda, MD 20892, USA.

Elise M N Ferré (EMN)

Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA.
ORCID: 0000-0002-3285-7768

Monica M Schmitt (MM)

Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA.

Tom DiMaggio (T)

Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA.
ORCID: 0000-0002-3051-5553

Princess Barber (P)

Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA.
ORCID: 0009-0004-4921-7697

Gregory M Constantine (GM)

Laboratory of Parasitic Diseases, NIAID, NIH, Bethesda, MD 20892, USA.
ORCID: 0000-0001-5379-9475

Lindsey B Rosen (LB)

Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA.
ORCID: 0000-0001-5894-3878

Paul G Auwaerter (PG)

Sherrilyn and Ken Fisher Center for Environmental Infectious Diseases, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
ORCID: 0000-0002-8273-9057

Bhumika Gandhi (B)

Division of Internal Medicine-Pediatrics, Department of Medicine, Medstar Georgetown University Hospital, Washington, DC 20007, USA.
ORCID: 0009-0009-3025-5104

Jennifer L Miller (JL)

Division of Pediatric Endocrinology, Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.
ORCID: 0000-0002-5207-8091

Rachel Eisenberg (R)

Division of Allergy and Immunology, Department of Pediatrics, Montefiore Medical Center, Bronx, NY 10467, USA.

Arye Rubinstein (A)

Division of Allergy and Immunology, Department of Pediatrics, Montefiore Medical Center, Bronx, NY 10467, USA.
Department of Microbiology and Immunology, Montefiore Medical Center, Bronx, NY 10467, USA.

Edith Schussler (E)

Division of Pulmonary, Allergy, and Immunology, Department of Pediatrics, Weill Cornell Medicine, New York, NY 10065, USA.
ORCID: 0009-0000-9492-3073

Erjola Balliu (E)

Department of Endocrinology, Diabetes and Metabolism, Lakeland Regional Health Grasslands Campus, Lakeland, FL 33803, USA.
ORCID: 0009-0003-0740-3013

Vandana Shashi (V)

Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA.
Undiagnosed Diseases Network, Duke University Medical Center, Durham, NC 27710, USA.
ORCID: 0000-0002-5011-7501

Olaf Neth (O)

Inborn Errors of Immunity Laboratory, Biomedicine Institute in Seville (IBiS), University of Seville/CSIC, "Red de Investigación Translacional en Infectología Pediátrica," Paediatric Infectious Diseases, Rheumatology and Immunology Unit, Virgen del Rocío University Hospital, Seville 41013, Spain.
ORCID: 0000-0001-5018-0466

Peter Olbrich (P)

Inborn Errors of Immunity Laboratory, Biomedicine Institute in Seville (IBiS), University of Seville/CSIC, "Red de Investigación Translacional en Infectología Pediátrica," Paediatric Infectious Diseases, Rheumatology and Immunology Unit, Virgen del Rocío University Hospital, Seville 41013, Spain.
Departamento de Farmacología, Pediatría y Radiología, Facultad de Medicina, Universidad de Sevilla, Seville 41004, Spain.
ORCID: 0000-0001-9853-7903

Kim My Le (KM)

Translational Immunology Research Program, University of Helsinki, Helsinki 00014, Finland.
Pediatric Research Center, New Children's Hospital, University of Helsinki and HUS Helsinki University Hospital, Helsinki 00290, Finland.
ORCID: 0000-0001-8960-7164

Nanni Mamia (N)

Pediatric Research Center, New Children's Hospital, University of Helsinki and HUS Helsinki University Hospital, Helsinki 00290, Finland.
ORCID: 0009-0002-0562-1845

Saila Laakso (S)

Pediatric Research Center, New Children's Hospital, University of Helsinki and HUS Helsinki University Hospital, Helsinki 00290, Finland.
Folkhälsan Research Center, Helsinki 00250, Finland.
Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki 00014, Finland.
ORCID: 0000-0002-5588-7855

Pasi I Nevalainen (PI)

JJP Biologics, Warsaw 00-728, Poland.
ORCID: 0000-0002-7397-6122

Juha Grönholm (J)

Translational Immunology Research Program, University of Helsinki, Helsinki 00014, Finland.
Pediatric Research Center, New Children's Hospital, University of Helsinki and HUS Helsinki University Hospital, Helsinki 00290, Finland.
ORCID: 0000-0002-4190-0000

Mikko R J Seppänen (MRJ)

Translational Immunology Research Program, University of Helsinki, Helsinki 00014, Finland.
Pediatric Research Center, New Children's Hospital, University of Helsinki and HUS Helsinki University Hospital, Helsinki 00290, Finland.
European Reference Network Rare Immunodeficiency Autoinflammatory and Autoimmune Diseases Network (ERN RITA) Core Center, Utrecht, 3584 CX, Netherlands.
ORCID: 0000-0001-9733-3650

Louis Boon (L)

JJP Biologics, Warsaw 00-728, Poland.
ORCID: 0000-0002-0937-9171

Gulbu Uzel (G)

Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA.
ORCID: 0009-0003-0700-694X

Luis M Franco (LM)

Functional Immunogenomics Unit, Systemic Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD 20892, USA.
ORCID: 0000-0002-0540-5942

Theo Heller (T)

Liver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, MD 20892, USA.
ORCID: 0000-0002-2643-6289

Karen K Winer (KK)

Pediatric Growth and Nutrition Branch, National Institute of Child Health and Human Development, NIH, Bethesda, MD 20892, USA.
ORCID: 0000-0001-8261-5188

Rajarshi Ghosh (R)

Centralized Sequencing Program, Division of Intramural Research, NIAID, NIH, Bethesda, MD 20892, USA.

Bryce A Seifert (BA)

Centralized Sequencing Program, Division of Intramural Research, NIAID, NIH, Bethesda, MD 20892, USA.
ORCID: 0000-0001-7970-3611

Magdalena Walkiewicz (M)

Centralized Sequencing Program, Division of Intramural Research, NIAID, NIH, Bethesda, MD 20892, USA.

Luigi D Notarangelo (LD)

Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA.
ORCID: 0000-0002-8335-0262

Qing Zhou (Q)

Inflammatory Disease Section, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.

Ivona Askentijevich (I)

Inflammatory Disease Section, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
ORCID: 0000-0002-6564-7214

William Gahl (W)

Medical Genetics Branch, National Human Genome Research Institute, and NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA.
ORCID: 0000-0002-2494-6752

Cliffton L Dalgard (CL)

Department of Anatomy, Physiology, and Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA.
American Genome Center, Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA.
ORCID: 0000-0003-2025-8239

Lalith Perera (L)

Genome Integrity and Structural Biology Laboratory, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, NC 27709, USA.
ORCID: 0000-0003-0823-1631

Behdad Afzali (B)

Immunoregulation Section, Kidney Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, MD 20892, USA.
ORCID: 0000-0003-2968-1156

Sander W Tas (SW)

Departments of Rheumatology and Clinical Immunology and Experimental Immunology, Amsterdam UMC, University of Amsterdam, Amsterdam, 1105 AZ, Netherlands.

Steven M Holland (SM)

Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA.
ORCID: 0000-0003-3207-5464

Michail S Lionakis (MS)

Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA.
ORCID: 0000-0003-4994-9500

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › A deep intronic splice-altering
questionsmedicales.fr › Maladies du système immunitaire › Maladies auto-immunes › Polyendocrinopathies auto-immunes › A deep intronic splice-altering
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › A deep intronic splice-altering
questionsmedicales.fr › Actions chimiques et utilisations › Utilisations spécialisées de produits chimiques › Produits chimiques de laboratoire › Sondes moléculaires › Sondes d'acide nucléique › Éléments antisens (génétique) › Oligonucléotides antisens › A deep intronic splice-altering
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Composants de gène › Introns › A deep intronic splice-altering
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Composants de gène › Exons › A deep intronic splice-altering
questionsmedicales.fr › Phénomènes génétiques › Régulation de l'expression des gènes › Maturation post-transcriptionnelle des ARN › Épissage des ARN › A deep intronic splice-altering
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › A deep intronic splice-altering
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › A deep intronic splice-altering
questionsmedicales.fr › Personnes › Tranches d'âge › Adolescent › A deep intronic splice-altering
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Pedigree › A deep intronic splice-altering
questionsmedicales.fr › Cellules › Cellules cultivées › Lignée cellulaire › A deep intronic splice-altering
questionsmedicales.fr › Sciences de l'information › Sources d'information › Services d'information › Documentation › Données de séquences moléculaires › Séquence nucléotidique › A deep intronic splice-altering
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › A deep intronic splice-altering