Cutaneous T-cell lymphoma as a unique presenting malignancy in X-linked magnesium defect with EBV infection and neoplasia (XMEN) disease

Freeman, Catherine; Wright, Benjamin L.; Bauer, Cindy S.; Rukasin, Christine; Chiang, Samuel C.C.; Marsh, Rebecca; Taylor, Steve M.; Jacobsen, Jeffrey; Miller, Holly; Badia, Priscila

doi:10.1016/j.clim.2021.108722

Cited by 5 publications

(9 citation statements)

References 6 publications

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“…Associated malignancy Effect on immune system CVID Gastric malignancies 17,19,21 Lymphoma 17,[19][20][21] Reduced T-lymphocyte proliferation 5,16,[19][20][21] Impaired B-cell activity 5,17,[19][20][21] SCID Leukaemia 6,45,47 EBV-associated lymphomas 43,44,52 Decreased T-cells and B-cells 6,45,47 Variable effect on NK cells (may be normal, may be decreased) 6,45,52 XMEN EBV-associated lymphomas [56][57][58] Impaired T-cell and NK cell function 7,[56][57][58] Wiskott-Aldrich Syndrome Haematological malignancies 8,68 Impaired T-cell, 8, 68 B-cell 9,68 and NK cell function 9,68,69,74 Ataxia Telangiectasia Leukaemia 83,84 Lymphoma [82][83]…”

Section: Inborn Error Of Immunitymentioning

confidence: 99%

“…X-linked immunodeficiency with magnesium defect, EBV infection and neoplasm (XMEN) is an X-linked disorder, resulting from a loss of function (LOF) mutation of the MAGT1 magnesium transporter. 56,57 XMEN was first reported in 2011. 58 As of January 2022, there have been 45 reported cases.…”

Section: X-linked Immunodeficiency With Magnesium Defect Ebv Infectio...mentioning

confidence: 99%

“…60,63 MAGT1 is ubiquitously expressed, allowing intracellular magnesium homeostasis. 7,56 Though the importance of magnesium for T-cell function has been known for decades, 7 the role of MAGT1 has been better characterised through studying XMEN. 57 MAGT1 allows the rapid influx of magnesium into T-cells following T-cell receptor (TCR) engagement.…”

Section: X-linked Immunodeficiency With Magnesium Defect Ebv Infectio...mentioning

confidence: 99%

“…LOF mutations in MAGT1 cause defective T-cell signalling, characterised by decreased magnesium and calcium influx, and delayed and diminished phospholipase C-γ phosphorylation and activation. 7,56,63 The MAGT1 defect also causes a chronic decrease in basal Mg 2+ concentration. 57 This reduces expression of the NK group 2D (NKG2D) receptor.…”

Section: X-linked Immunodeficiency With Magnesium Defect Ebv Infectio...mentioning

confidence: 99%

“…This facilitates tumour surveillance, anti-tumour and anti-EBV effects. 7,56,57,63 In XMEN, these processes are impaired. Mutations in MAGT1 have been linked to hypoglycosylation of NKG2D, leading to its insufficient expression.…”

Section: X-linked Immunodeficiency With Magnesium Defect Ebv Infectio...mentioning

confidence: 99%

See 4 more Smart Citations

Malignancy‐associated immune responses: Lessons from human inborn errors of immunity

Aliyath,

Eni‐Olotu,

Donaldson

et al. 2023

Immunology

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It is widely understood that cancer is a significant cause of morbidity and mortality worldwide. Despite numerous available treatments, prognosis for many remains poor, thus, the development of novel therapies remains essential. Given the incredible success of many immunotherapies in this field, the important contribution of the immune system to the control, and elimination, of malignancy is clear. While many immunotherapies target higher‐order pathways, for example, through promoting T‐cell activation via immune checkpoint blockade, the potential to target specific immunological pathways is largely not well researched. Precisely understanding how immunity can be tailored to respond to specific challenges is an exciting idea with great potential, and may trigger the development of new therapies for cancer. Inborn Errors of Immunity (IEI) are a group of rare congenital disorders caused by gene mutations that result in immune dysregulation. This heterogeneous group, spanning widespread, multisystem immunopathology to specific immune cell defects, primarily manifest in immunodeficiency symptoms. Thus, these patients are particularly susceptible to life‐threatening infection, autoimmunity and malignancy, making IEI an especially complex group of diseases. While precise mechanisms of IEI‐induced malignancy have not yet been fully elucidated, analysis of these conditions can highlight the importance of particular genes, and downstream immune responses, in carcinogenesis and may help inform mechanisms which can be utilised in novel immunotherapies. In this review, we examine the links between IEIs and cancer, establishing potential connections between immune dysfunction and malignancy and suggesting roles for specific immunological mechanisms involved in preventing carcinogenesis, thus, guiding essential future research focused on cancer immunotherapy and providing valuable insight into the workings of the immune system in both health and disease.

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Section: Inborn Error Of Immunitymentioning

confidence: 99%

Section: X-linked Immunodeficiency With Magnesium Defect Ebv Infectio...mentioning

confidence: 99%

Section: X-linked Immunodeficiency With Magnesium Defect Ebv Infectio...mentioning

confidence: 99%

Section: X-linked Immunodeficiency With Magnesium Defect Ebv Infectio...mentioning

confidence: 99%

Section: X-linked Immunodeficiency With Magnesium Defect Ebv Infectio...mentioning

confidence: 99%

See 3 more Smart Citations

Malignancy‐associated immune responses: Lessons from human inborn errors of immunity

Aliyath,

Eni‐Olotu,

Donaldson

et al. 2023

Immunology

View full text Add to dashboard Cite

show abstract

HLH and Recurrent EBV Lymphoma as the presenting manifestation of MAGT1 Deficiency: A Systematic Review of the Expanding Disease Spectrum

Golloshi,

Mitchell,

Kumar

et al. 2024

J Clin Immunol

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Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review

Biglari,

Moghaddam,

Tabatabaiefar

et al. 2024

Genetics in Medicine

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Cutaneous T-cell lymphoma as a unique presenting malignancy in X-linked magnesium defect with EBV infection and neoplasia (XMEN) disease

Cited by 5 publications

References 6 publications

Malignancy‐associated immune responses: Lessons from human inborn errors of immunity

Malignancy‐associated immune responses: Lessons from human inborn errors of immunity

HLH and Recurrent EBV Lymphoma as the presenting manifestation of MAGT1 Deficiency: A Systematic Review of the Expanding Disease Spectrum

Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review

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