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Magnesium Transporter 1 Deficiency

MAGT1 deficiency, also known as XMEN disease, is a rare genetic disorder caused by mutations in the MAGT1 gene. This gene codes for a protein that transports magnesium ions across cell membranes, and its deficiency leads to impaired magnesium homeostasis and subsequent immune system dysfunction

Prevalence

0.1/100,000

50–150

US Estimated

80–200

Europe Estimated

Age of Onset

ICD-10

D84.9

Inheritance

Autosomal dominant

Autosomal recessive

Mitochondrial/Multigenic

X-linked dominant

X-linked recessive

5 Facts you should know

FACT

1

Due to overlapping features like hypogammaglobulinemia, recurrent infections, and EBV-related complications, MAGT1 deficiency may go unrecognized without genetic testing

FACT

2

Some patients may exhibit mild neurodevelopmental delays, facial dysmorphism, or gastrointestinal symptoms, suggesting a broader systemic impact of MAGT1 dysfunction

FACT

3

Despite the intracellular magnesium defect, blood magnesium levels can appear normal, which may delay suspicion of MAGT1-related pathology

FACT

4

MAGT1 deficiency primarily affects males and may present in adolescence or adulthood, although childhood-onset is also observed

FACT

5

Management focuses on monitoring EBV levels, treating lymphoproliferative complications, and supportive care; hematopoietic stem cell transplantation is under investigation in severe cases

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MAGT1 Deficiency is also known as...

MAGT1 Deficiency is also known as:

  • XMEN Disease (X-linked Immunodeficiency with Magnesium Defect, Epstein–Barr Virus Infection, and Neoplasia)

  • MAGT1-related Immunodeficiency

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Common signs and symptoms

Recurrent viral infections

especially chronic EBV

Reduced CD4+ and NKG2D+ T cells

Chronic fatigue or lymphoproliferation

Increased risk of EBV-associated lymphomas

Impaired magnesium uptake into immune cells

Mild hypomagnesemia

Susceptibility to other herpesviruses

Delayed or abnormal antibody responses

Current treatments

Antiviral therapies

to manage EBV and other infections

Immunoglobulin replacement therapy

in some cases

Magnesium supplementation

though cellular uptake remains impaired

Hematopoietic stem cell transplant (HSCT)

considered in severe cases

Monitoring for malignancies

particularly EBV-related lymphomas

See full disease profile