Invariant Natural Killer T Cells are Reduced in Hereditary Hemochromatosis Patients

Maia, Maria Luz; Pereira, Cátia; Melo, Graça; Pinheiro, Inês; Exley, Mark A.; Porto, Graça; Macedo, Mário

doi:10.1007/s10875-014-0118-0

Cited by 8 publications

(2 citation statements)

References 34 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Recently, a study comparing HH patients and control individuals reported reduced numbers of circulating iNKT in HH patients . Untreated patients had more prominent defects in iNKT cells that were reflected in levels of serum ferritin and Tf saturation.…”

Section: Hfe Functions In the Immune Systemmentioning

confidence: 99%

The hemochromatosis protein HFE 20 years later: An emerging role in antigen presentation and in the immune system

Reuben

Chung

Lapointe

et al. 2017

Immunity Inflam & Disease

View full text Add to dashboard Cite

IntroductionSince its discovery, the hemochromatosis protein HFE has been primarily defined by its role in iron metabolism and homeostasis, and its involvement in the genetic disease termed hereditary hemochromatosis (HH). While HH patients are typically afflicted by dysregulated iron levels, many are also affected by several immune defects and increased incidence of autoimmune diseases that have thereby implicated HFE in the immune response. Growing evidence has supported an immunological role for HFE with recent studies describing HFE specifically as it relates to MHC I antigen presentation.Methods/ResultsHere, we present a comprehensive overview of the relationship between iron metabolism, HFE, and the immune system to better understand the origin and cause of immune defects in HH patients. We further describe the role of HFE in MHC I antigen presentation and its potential to impair autoimmune responses in homeostatic conditions, a mechanism which may be exploited by tumors to evade immune surveillance.ConclusionOverall, this increased understanding of the role of HFE in the immune response sets the stage for better treatment and management of HH and other iron‐related diseases, as well as of the immune defects related to this condition.

show abstract

Section: Hfe Functions In the Immune Systemmentioning

confidence: 99%

The hemochromatosis protein HFE 20 years later: An emerging role in antigen presentation and in the immune system

Reuben

Chung

Lapointe

et al. 2017

Immunity Inflam & Disease

View full text Add to dashboard Cite

show abstract

“…Consequently, increased iron levels in the blood stream are observed [1,4,5]. The altered immunological status observed in HFE-associated HH patients is mainly due to iron overload, leading, for example, to lower levels of circulating invariant natural killer cells [20] or lower levels of cytokine production in macrophages [21]. In C282Y HH patients, the lower levels of expression of MHC class I molecules shown in peripheral mononuclear cells have been attributed to impaired intracellular trafficking due to HFE failing to bind to β2-microglobulin [22,23].…”

Section: Introductionmentioning

confidence: 99%

Cytokine and Gene Expression Profiling in Patients with <b><i>HFE</i></b>-Associated Hereditary Hemochromatosis according to Genetic Profile

et al. 2020

View full text Add to dashboard Cite

Background: Hemochromatosis gene (HFE)-associated hereditary hemochromatosis (HH) is characterized by downregulation of hepcidin synthesis, leading to increased intestinal iron absorption. Objectives: The objectives were to characterize and elucidate a possible association between gene expression profile, hepcidin levels, disease severity, and markers of inflammation in HFE-associated HH patients. Methods: Thirty-nine HFE-associated HH patients were recruited and assigned to 2 groups according to genetic profile: C282Y homozygotes in 1 group and patients with H63D, as homozygote or in combination with C282Y, in the other group. Eleven healthy first-time blood donors were recruited as controls. Gene expression was characterized from peripheral blood cells, and inflammatory cytokines and hepcidin-25 isoform were quantified in serum. Biochemical disease characteristics were recorded. Results: Elevated levels of interleukin 8 were observed in a significant higher proportion of patients than controls. In addition, compared to controls, gene expression of ζ-globin was significantly increased among C282Y homozygote patients, while gene expression of matrix metalloproteinase 8, and other neutrophil-secreted proteins, was significantly upregulated in patients with H63D. Conclusion: Different disease signatures may characterize HH patients according to their HFE genetic profile. Studies on larger populations, including analyses at protein level, are necessary to confirm these findings.

show abstract

Ferroptosis contributes to immunosuppression

He,

Yuan,

Luo

et al. 2024

Front. Med.

View full text Add to dashboard Cite

Invariant Natural Killer T Cells are Reduced in Hereditary Hemochromatosis Patients

Abstract: Altogether, our results demonstrate that HH patients have reduced numbers of iNKT cells and that these are influenced by iron overload.

Cited by 8 publications

References 34 publications

The hemochromatosis protein HFE 20 years later: An emerging role in antigen presentation and in the immune system

The hemochromatosis protein HFE 20 years later: An emerging role in antigen presentation and in the immune system

Cytokine and Gene Expression Profiling in Patients with <b><i>HFE</i></b>-Associated Hereditary Hemochromatosis according to Genetic Profile

Ferroptosis contributes to immunosuppression

Contact Info

Product

Resources

About