Hemophagocytic lymphohistiocytosis (HLH) with Epstein-Barr virus (EBV) susceptibility [20 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.

  • Predisposition to EBV infections
  • Histiocytosis
  • Reduced or absent NK levels, cytopenia
  • Lymphadenopathy
  • Dysregulation of cytokine production
  • Prolonged fever

1:50.000

  • Diagnosis (ALPs and CID) and genetic counseling
  • Immunosuppressive therapy

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2. Sample collection

Three sample types: saliva, peripheral blood or genomic DNA

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5. Result: the report

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Hemophagocytic lymphohistiocytosis (HLH) with Epstein-Barr virus (EBV) susceptibility

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Technique: NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-202110287

Hemophagocytic lymphohistiocytosis (HLH) with Epstein-Barr virus (EBV) susceptibility: View panel
  • CARMIL2
  • CD27
  • CD70
  • CTPS1
  • FAAP24
  • IL2RA
  • IL2RB
  • ITK
  • MAGT1
  • MCM4
  • PRF1
  • PRKCD
  • RASGRP1
  • SH2D1A
  • TBK1
  • TNFRSF9
  • TRAF1
  • TRAF2
  • TRAF3
  • XIAP

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.