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Inborn errors of immunity: A field without frontiers.
Bucciol, Giorgia; Delafontaine, Selket; Meyts, Isabelle; Poli, Cecilia.
Afiliação
  • Bucciol G; Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium.
  • Delafontaine S; Laboratory for Inborn Errors of Immunity, KU Leuven, Leuven, Belgium.
  • Meyts I; Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium.
  • Poli C; Laboratory for Inborn Errors of Immunity, KU Leuven, Leuven, Belgium.
Immunol Rev ; 322(1): 15-27, 2024 Mar.
Article em En | MEDLINE | ID: mdl-38062988
The study of primary immunodeficiencies or inborn errors of immunity continues to drive our knowledge of the function of the human immune system. From the outset, the study of inborn errors has focused on unraveling genetic etiologies and molecular mechanisms. Aided by the continuous growth in genetic diagnostics, the field has moved from the study of an infection dominated phenotype to embrace and unravel diverse manifestations of autoinflammation, autoimmunity, malignancy, and severe allergy in all medical disciplines. It has now moved from the study of ultrarare presentations to producing meaningful impact in conditions as diverse as inflammatory bowel disease, neurological conditions, and hematology. Beyond offering immunogenetic diagnosis, the study of underlying inborn errors of immunity in these conditions points to targeted treatment which can be lifesaving.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Autoimunidade / Neoplasias Limite: Humans Idioma: En Ano de publicação: 2024 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Autoimunidade / Neoplasias Limite: Humans Idioma: En Ano de publicação: 2024 Tipo de documento: Article