HLH with Epstein Barr Virus Susceptibility panel [13 genes]

Inherited HLH disorders can be triggered by exposure to EBV or other viruses. Genetic disruption in the genes contained in this panel have been associated with an inappropriate immune response to EBV virus infection, which frequently results in a severe and often lethal (mononucleosis) infection, dysgammaglobulinemia, lymphoproliferative disorders, or immunodeficiency, where anti-EBV therapies fail. The high mortality due to these infections and the high incidence of EBV in the general population highlight the importance of an early genetic diagnosis in HLH patients with a strong susceptibility for those infections. Genes associated with HLH have also been linked to other immune-related disorders, including ALPs and CID.

Clinical features

  • Histiocytosis
  • Low or absent NK, cytopenia
  • Lymphadenopathy
  • Cytokine production dysregulation
  • Prolonged fever
  • Predisposition to EBV infections

Prevalence

  • 1:50,000

Service benefits and management

  • Immunosuppressive therapy
  • Genetic counselling
  • Accurate diagnosis and phenotype-genotype correlation

CARMIL2, CD27, CD70, CTPS1, FAAP24, ITK, MAGT1, MCM4, PRF1, PRKCD, RASGRP1, SH2D1A, XIAP

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