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Clinical and biochemical footprints of inherited metabolic diseases. XII. Immunological defects.
de Boer, Lonneke; Cambi, Alessandra; Verhagen, Lilly M; de Haas, Paola; van Karnebeek, Clara D M; Blau, Nenad; Ferreira, Carlos R.
Afiliação
  • de Boer L; Radboud University Medical Center, Amalia Children's Hospital, Nijmegen, the Netherlands. Electronic address: Lonneke.deBoer@radboudumc.nl.
  • Cambi A; Department of Medical BioSciences, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Verhagen LM; Radboud University Medical Center, Amalia Children's Hospital, Nijmegen, the Netherlands; Laboratory of Medical Immunology, Radboud Institute for Molecular Life Sciences, Radboud Center for Infectious Diseases, Radboud University Medical Center, Nijmegen, the Netherlands.
  • de Haas P; Department of Medical BioSciences, Radboud University Medical Center, Nijmegen, the Netherlands.
  • van Karnebeek CDM; Departments of Pediatrics and Human Genetics, Emma Center for Personalized Medicine, Amsterdam University Medical Centers, Amsterdam, the Netherlands.
  • Blau N; Division of Metabolism, University Children's Hospital, Zurich, Switzerland. Electronic address: nenad.blau@kispi.uzh.ch.
  • Ferreira CR; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States of America. Electronic address: carlos.ferreira@nih.gov.
Mol Genet Metab ; 139(1): 107582, 2023 05.
Article em En | MEDLINE | ID: mdl-37087816
Immunological problems are increasingly acknowledged manifestations in many inherited metabolic diseases (IMDs), ranging from exaggerated inflammation, autoimmunity and abnormal cell counts to recurrent microbial infections. A subgroup of IMDs, the congenital disorders of glycosylation (CDG), includes CDG types that are even classified as primary immunodeficiencies. Here, we reviewed the list of metabolic disorders reported to be associated with various immunological defects and identified 171 IMDs accompanied by immunological manifestations. Most IMDs are accompanied by immune dysfunctions of which immunodeficiency and infections, innate immune defects, and autoimmunity are the most common abnormalities reported in 144/171 (84%), 44/171 (26%) and 33/171 (19%) of IMDs with immune system involvement, respectively, followed by autoinflammation 17/171 (10%). This article belongs to a series aiming at creating and maintaining a comprehensive list of clinical and metabolic differential diagnoses according to organ system involvement.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Metabólicas Limite: Humans Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2023 Tipo de documento: Article País de publicação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Metabólicas Limite: Humans Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2023 Tipo de documento: Article País de publicação: Estados Unidos