9 documents found, page 1 of 1

HFE Related Hemochromatosis: Uncovering the Inextricable Link between Iron Home...

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 leuk...

Molecular analysis of iron overload in beta2-microglobulin-deficient mice.

Beta2-microglobulin knockout (beta2m-/-) mice represent an instructive model of spontaneous iron overload resembling genetic hemochromatosis. The mechanism of iron accumulation in this mouse model may be more complex than involving the MHC class I-like protein HFE. We report that beta2m-deficient mice, like Hfe-/- mice, lack the adaptive hepatic hepcidin mRNA increase to iron overload. The inverse correlation o...

A study of some hepatic immunological markers, iron load and virus genotype in ...

BACKGROUND/AIMS: Host factors that may influence progression of hepatitis C infection to chronic hepatitis include T-cell responses and iron accumulation. We evaluated the hepatic expression of immunological markers relevant for a cytotoxic response in relation to viral and HFE genotype. METHODS: Frozen liver biopsies were obtained at diagnosis from 28 HFE genotyped patients. Sections stained for CD8, MHC-I, be...

Increased hepatic iron in mice lacking classical MHC class I molecules.

Iron accumulation in the liver in hereditary hemochromatosis (HH) has been shown to be highly variable. Some studies point to the importance of major histocompatibility complex (MHC) class I (MHC-I) and CD8(+) cells as modifiers of iron overload. In this report, using mice knockout for H2K(b-/-) and H2D(b-/-) genes, it is demonstrated that lack of classical MHC-I molecules results in a spontaneous increase of n...

Hepatic damage in C282Y homozygotes relates to low numbers of CD8+ cells in the...

BACKGROUND: Although most Caucasian patients with hereditary haemochromatosis (HH) show the same mutation in the HFE gene, the phenotypic expression of the disease varies greatly. We have previously shown that patients with HH who have high iron stores have low numbers of circulating CD8+ T lymphocytes. PATIENTS AND METHODS: Liver and peripheral blood were studied in 37 C282Y homozygous HH patients; nine normal...

Iron and the paradox of disease

Influência do fenótipo HLA e da razão CD4/CD8 na expressão da Doença hepática e...

Investigative medicine in Portugal: illustrations and lessons

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Spleen lymphocyte subpopulations in patients with Hodgkin's disease.

Estudaram-se as populações linfocitária em bacos de 5 doentes com doença de Hodgkin e num individuo normal. Nos bacos patológicos observou-se um aumento do número de células null e uma diminuição da resposta ao mitogénio Concanavalina A, com manutenção da resposta a fitohemaglutinina. Por separação das células em gradientes de densidade isolou-se uma população celular incapaz de responder a Concanavalina A.