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Case report and review of the literature: immune dysregulation in a large familial cohort due to a novel pathogenic RELA variant.
Lecerf, Kelsey; Koboldt, Daniel C; Kuehn, Hye Sun; Jayaraman, Vijayakumar; Lee, Kristy; Mihalic Mosher, Theresa; Yonkof, Jennifer R; Mori, Mari; Hickey, Scott E; Franklin, Samuel; Drew, Joanne; Akoghlanian, Shoghik; Sivaraman, Vidya; Rosenzweig, Sergio D; Wilson, Richard K; Abraham, Roshini S.
Afiliação
  • Lecerf K; Division of Allergy and Immunology, Department of Pediatrics, Nationwide Children's Hospital.
  • Koboldt DC; Division of Allergy and Immunology, Department of Otolaryngology, The Ohio State University Wexner Medical Center.
  • Kuehn HS; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.
  • Jayaraman V; Immunology Service, Department of Laboratory Medicine, NIH Clinical Center, Bethesda, MD.
  • Lee K; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.
  • Mihalic Mosher T; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.
  • Yonkof JR; Department of Pathology, The Ohio State University Wexner College of Medicine, Columbus, OH.
  • Mori M; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.
  • Hickey SE; Ambry Genetics, Aliso Viejo, CA.
  • Franklin S; Department of Pediatrics, Toledo Children's Hospital, Toledo.
  • Drew J; Division of Genetic and Genomic Medicine.
  • Akoghlanian S; Division of Genetic and Genomic Medicine.
  • Sivaraman V; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.
  • Rosenzweig SD; Division of Pediatric Rheumatology, Department of Pediatrics.
  • Wilson RK; Division of Pediatric Rheumatology, Department of Pediatrics.
  • Abraham RS; Division of Pediatric Rheumatology, Department of Pediatrics.
Rheumatology (Oxford) ; 62(1): 347-359, 2022 12 23.
Article em En | MEDLINE | ID: mdl-35412596
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2022 Tipo de documento: Article