X-linked Immunodeficiency With Magnesium Defect, Epstein-barr Virus Infection And Neoplasia

Description

X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is a rare combined T and B cell immunodeficiency characterized by recurrent sinopulmonary and viral infections, persistent elevated Epstein-Barr virus (EBV) viremia and increased susceptibility to EBV-associated B-cell lymphoproliferative disorders. Immunological analyses show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias.

Clinical Features

Phenotypes and symptoms related to X-linked Immunodeficiency With Magnesium Defect, Epstein-barr Virus Infection And Neoplasia

  • Neoplasm
  • Immunodeficiency
  • Recurrent infections
  • Lymphoma
  • Lymphopenia
  • Recurrent viral infections
  • Decreased proportion of CD4-positive T cells
  • Decreased T cell activation

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

X-linked Immunodeficiency With Magnesium Defect, Epstein-barr Virus Infection And Neoplasia Is also known as combined immunodeficiency due to magt1 deficiency, cid due to magt1 deficiency, xmen.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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X-linked Immunodeficiency With Magnesium Defect, Epstein-barr Virus Infection And Neoplasia Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS XLID Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TAF1, TIMM8A, TSPAN7, MED12, UBE2A, USP9X, ZMYM3, ZNF41, ZNF711 , (...)

View the complete list with 94 more genes
Specificity
1 %
Genes
100 %
MAGT1 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

MAGT1
Specificity
100 %
Genes
100 %
Autoimmune Lymphoproliferative Syndrome Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

FAS, FASLG, CASP10, CASP8, MAGT1, FADD, ITK, KRAS, NRAS
Specificity
12 %
Genes
100 %
Hemophagocytic Lymphohistiocytosis Panel by next generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

SH2D1A, SLC7A7, STX11, STXBP2, CD27, LYST, UNC13D, MAGT1, GATA2, AP3B1, XIAP, ITK, BLOC1S6, PRF1, RAB27A
Specificity
7 %
Genes
100 %
Autoimmune Lymphoproliferative Syndrome Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

FAS, FASLG, CASP10, CASP8, MAGT1, FADD, ITK, KRAS, NRAS
Specificity
12 %
Genes
100 %
Hemophagocytic Lymphohistiocytosis Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

SH2D1A, SLC7A7, STX11, STXBP2, CD27, LYST, UNC13D, MAGT1, AP3B1, XIAP, ITK, BLOC1S6, PRF1, RAB27A
Specificity
8 %
Genes
100 %
MAGT1 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

MAGT1
Specificity
100 %
Genes
100 %
Tier 2: Hereditary Lymphoma and Immunodeficiency Panel.

By Genetic Services Laboratory University of Chicago (United States).

BLM, SH2D1A, BRCA1, BRCA2, STXBP2, FAS, CD27, FASLG, WAS, IKZF1, CASP10, CARD11, TNFRSF13B, ADA, DOCK8, CTLA4, MAGT1, ITK, NBN, NF1 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

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