دورية أكاديمية
أعرض في EDS

HFE Related Hemochromatosis: Uncovering the Inextricable Link between Iron Homeostasis and the Immunological System.

التفاصيل البيبلوغرافية
العنوان: HFE Related Hemochromatosis: Uncovering the Inextricable Link between Iron Homeostasis and the Immunological System.
المؤلفون: Porto G; Hematology, Centro Hospitalar Universitário do Porto (CHUP), 4099-001 Porto, Portugal. gporto@ibmc.up.pt.; Basic & Clinical Research on Iron Biology, Instituto de Investigação e Inovação em Saúde (I3S) & Instituto de Biologia Molecular e Celular (IBMC), 4200-135 Porto, Portugal. gporto@ibmc.up.pt.; Molecular Pathology and Immunology, Instituto de Ciências Biomédicas Abel Salazar (ICBAS), Universidade do Porto, 4050-313 Porto, Portugal. gporto@ibmc.up.pt., Cruz E; Hematology, Centro Hospitalar Universitário do Porto (CHUP), 4099-001 Porto, Portugal.; Basic & Clinical Research on Iron Biology, Instituto de Investigação e Inovação em Saúde (I3S) & Instituto de Biologia Molecular e Celular (IBMC), 4200-135 Porto, Portugal., Teles MJ; Hematology, Centro Hospitalar Universitário do Porto (CHUP), 4099-001 Porto, Portugal.; Clinical Pathology, Centro Hospitalar Universitário de S. João (CHUSJ), 4200-319 Porto, Portugal., de Sousa M; Basic & Clinical Research on Iron Biology, Instituto de Investigação e Inovação em Saúde (I3S) & Instituto de Biologia Molecular e Celular (IBMC), 4200-135 Porto, Portugal.
المصدر: Pharmaceuticals (Basel, Switzerland) [Pharmaceuticals (Basel)] 2019 Aug 22; Vol. 12 (3). Date of Electronic Publication: 2019 Aug 22.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101238453 Publication Model: Electronic Cited Medium: Print ISSN: 1424-8247 (Print) Linking ISSN: 14248247 NLM ISO Abbreviation: Pharmaceuticals (Basel) Subsets: PubMed not MEDLINE
أسماء مطبوعة: Original Publication: Basel, Switzerland : MDPI, c2004-
مستخلص: The HFE gene (OMIM 235200), most commonly associated with the genetic iron overload disorder Hemochromatosis, was identified by Feder et al. in 1996, as a major histocompatibilty complex (MHC) class I like gene, first designated human leukocyte antigen-H (HLA-H). This discovery was thus accomplished 20 years after the realization of the first link between the then "idiopathic" hemochromatosis and the human leukocyte antigens (HLA). The availability of a good genetic marker in subjects homozygous for the C282Y variant in HFE (hereditary Fe), the reliability in serum markers such as transferrin saturation and serum ferritin, plus the establishment of noninvasive methods for the estimation of hepatic iron overload, all transformed hemochromatosis into a unique age related disease where prevention became the major goal. We were challenged by the finding of iron overload in a 9-year-old boy homozygous for the C282Y HFE variant, with two brothers aged 11 and 5 also homozygous for the mutation. We report a 20 year follow-up during which the three boys were seen yearly with serial determinations of iron parameters and lymphocyte counts. This paper is divided in three sections: Learning, applying, and questioning. The result is the illustration of hemochromatosis as an age related disease in the transition from childhood to adult life and the confirmation of the inextricable link between iron overload and the cells of the immune system.
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معلومات مُعتمدة: Norte-01-0145-FEDER-000012 FEDER funds Norte 2020 Portugal Regional Operational Programme
فهرسة مساهمة: Keywords: CD8+ T cells; HFE; MHC; T lymphocytes; hemochromatosis; natural history; prevention
تواريخ الأحداث: Date Created: 20190825 Latest Revision: 20200929
رمز التحديث: 20221213
مُعرف محوري في PubMed: PMC6789554
DOI: 10.3390/ph12030122
PMID: 31443397
قاعدة البيانات: MEDLINE
الوصف
تدمد:1424-8247
DOI:10.3390/ph12030122