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Curation of gene-disease relationships in primary antibody deficiencies using the ClinGen validation framework
A. Nieto-Patlán, J. Ross, S. Mohan, MK. Paczosa, R. Soliman, O. Sarmento, E. Aliu, L. Thiyagarajan, A. Chandra, C. Picard, K. Warnatz, S. Jolles, H. Lesmana, PJ. Maglione, CD. Platt, A. Sediva, KE. Sullivan, K. Zhang, F. Raval, SG. Tangye, RS. Abraham
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články
- MeSH
- databáze genetické MeSH
- genetická predispozice k nemoci MeSH
- lidé MeSH
- primární imunodeficience * genetika MeSH
- syndromy imunologické nedostatečnosti * genetika MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
BACKGROUND: The Clinical Genome Resource (ClinGen) is an international collaborative effort among scientists and clinicians, diagnostic and research laboratories, and the patient community. Using a standardized framework, ClinGen has established guidelines to classify gene-disease relationships as definitive, strong, moderate, and limited on the basis of available scientific and clinical evidence. When the genetic and functional evidence for a gene-disease relationship has conflicting interpretations or contradictory evidence, they can be disputed or refuted. OBJECTIVE: We assessed genes related to primary antibody deficiencies. METHODS: The ClinGen Antibody Deficiencies Gene Curation Expert Panel, using the ClinGen framework, classified genes related to primary antibody deficiency that primarily affect B-cell development and/or function, and that account for the largest proportion of inborn errors of immunity or primary immunodeficiencies. RESULTS: The expert panel curated a total of 65 genes associated with humoral immune defects to validate 74 gene-disease relationships. Of these, 40 were classified as definitive, 1 as strong, 16 as moderate, 15 as limited, and 2 as disputed. The curation process involved reviewing 490 patient records and 3546 associated human phenotype ontology entries. The 3 most frequently observed terms related to primary antibody deficiency were decreased circulating antibody level, pneumonia, and lymphadenopathy. CONCLUSIONS: These curations (publicly available at ClinicalGenome.org) represent the first effort to provide a comprehensive genetic and phenotypic revision of genetic disorders affecting humoral immunity, as reviewed and approved by experts in the field.
Boston Children's Hospital Boston Mass
Departamento de Genética Hospital Infantil de México Federico Gómez Mexico City Mexico
Department of Genetics University of North Carolina School of Medicine Chapel Hill NC
Department of Immunology University Hospital Zurich Zurich Switzerland
Department of Medicine Boston University Chobanian and Avedisian School of Medicine Boston Mass
Department of Medicine University of Cambridge Cambridge United Kingdom
Department of Pediatrics Baylor College of Medicine Houston Tex
Garvan Institute of Medical Research Darlinghurst Australia
GoBroad Healthcare Group GoBroad Clinical Research Center Boren Hospital Beijing China
Immunodeficiency Centre for Wales University Hospital of Wales Cardiff United Kingdom
Invitae Corporation San Francisco Calif
Milton S Hershey Medical Center Hershey Pa
Motol University Hospital and the 2nd Faculty of Medicine Charles University Prague Czech Republic
Nationwide Children's Hospital Columbus Ohio
Queen Mary University of London London United Kingdom
School of Clinical Medicine Faculty of Medicine and Health UNSW Sydney Sydney Australia
School of Clinical Medicine University of New South Wales Sydney Australia
Sydney Children's Hospitals Network Sydney Australia
Citace poskytuje Crossref.org
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- $a Nieto-Patlán, Alejandro $u Department of Pediatrics, Baylor College of Medicine, Houston, Tex; Department of Allergy, Immunology and Rheumatology, Center for Human Immunobiology, Texas Children's Hospital, Houston, Tex; Departamento de Genética, Hospital Infantil de México Federico Gómez, Mexico City, Mexico
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