Chronic Epstein-barr Virus Infection Syndrome

Description

Chronic Epstein-Barr virus infection syndrome is a rare infectious disease characterized by familial, primary, chronic Epstein-Barr virus infection which typically manifests with persistent mononucleosis-like signs and symptoms, in the absence of secondary immunodeficiency.

Clinical Features

Top most frequent phenotypes and symptoms related to Chronic Epstein-barr Virus Infection Syndrome

  • Global developmental delay
  • Neoplasm
  • Failure to thrive
  • Anemia
  • Hepatomegaly
  • Fever
  • Fatigue
  • Splenomegaly
  • Immunodeficiency
  • Dilatation

And another 15 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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

Chronic Epstein-barr Virus Infection Syndrome Is also known as irf8 deficiency, autosomal recessive, epstein-barr virus, susceptibility to chronic infection by, immunodeficiency 32b, monocyte, dendritic cell, and natural killer cell deficiency, autosomal recessive, caebv syndrome, chronic ebv infection syndrome.

Researches and researchers

Doctors, researchs, and experts related to Chronic Epstein-barr Virus Infection Syndrome extracted from public data.

Chronic Epstein-barr Virus Infection Syndrome Experts map



Current Researchs and researchers

  • PARIS — Pr Sylvain LATOUR

    Investigator of research project

    • Institution/s:
      — Institut Imagine - INSERM U1163, IMAGINE - Institut des Maladies Génétiques
    • Research area/topic::

      Primary immunodeficiencies associated with susceptibility to Epstein Barr virus infection : studies from natural mutants to gene functions


  • HANNOVER — Pr Thomas F. SCHULZ

    Investigator of research project - Coordinator of research network - Director of department

    • Institution/s:
      — Zentrum Laboratoriumsmedizin, Medizinische Hochschule Hannover
    • Research area/topic::

      INCA : Research on the role of chronic Infections in the development of Cancer (FINISHED)


  • BIRMINGHAM — Dr Christopher P FOX

    Investigator of research project

    • Institution/s:
      — College of Medical and Dental Sciences, University of Birmingham
    • Research area/topic::

      Study to investigate the implications of Epstein Barr Virus (EBV)-related NK and T cell malignanciess on immune system cells and related types of cancer, through an analysis of patients' blood and and tissue samples



Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Chronic Epstein-barr Virus Infection Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Immunodeficiency type 32A, mycobacteriosis, autosomal dominant.

By Centogene AG - the Rare Disease Company (Germany).

IRF8
Specificity
100 %
Genes
100 %
Immunodeficiency type 32B, monocyte and dendritic cell deficiency, autosomal recessive.

By Centogene AG - the Rare Disease Company (Germany).

IRF8
Specificity
100 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company (Germany).

RMRP, BCS1L, BDNF, RPS19, RPS6KA3, SALL1, SCN1A, SCN2A, SFTPB, SFTPC, SFTPD, ST3GAL5, STIL, SIX1, SIX5, SLC16A1, SLCO1B1, SLCO1B3, SLC22A5, BRAF , (...)

View the complete list with 487 more genes
Specificity
1 %
Genes
100 %
New Born testing (CentoICU).

By Centogene AG - the Rare Disease Company (Germany).

RMRP, BCS1L, BDNF, RPS19, RPS6KA3, SALL1, SCN1A, SCN2A, SFTPB, SFTPC, SFTPD, ST3GAL5, STIL, SIX1, SIX5, SLC16A1, SLCO1B1, SLCO1B3, SLC22A5, BRAF , (...)

View the complete list with 487 more genes
Specificity
1 %
Genes
100 %
Defects of phagocytosis Panel.

By CeGaT GmbH (Germany).

STAT1, TAZ, TCIRG1, TCN2, TERT, WAS, WIPF1, ACTB, VPS45, HPS3, HPS4, HAX1, HPS5, DTNBP1, CEBPE, HPS6, SBDS, SLC35C1, BLOC1S3, VPS13B , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
Invitae Mendelian Susceptibility to Mycobacterial Disease Panel.

By Invitae (United States).

STAT1, STAT2, ACP5, TYK2, SAMHD1, IRAK4, ADAR, CYBB, ISG15, GATA2, IRF8, IFNGR1, IFNGR2, IL12B, IL12RB1, MYD88
Specificity
7 %
Genes
100 %
Invitae Primary Immunodeficiency Panel.

By Invitae (United States).

RMRP, RORC, SEMA3E, SH2D1A, SH3BP2, SLC7A7, SMARCAL1, BTK, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAPBP, TAZ, TBK1, TCN2 , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
IRF8.

By Fulgent Genetics Fulgent Genetics (United States).

IRF8
Specificity
100 %
Genes
100 %

We have 4 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12; SCAR12 SCHIZOPHRENIA; SCZD

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more