Development of EBV Related Diffuse Large B-cell Lymphoma in Deficiency of Adenosine Deaminase 2 with Uncontrolled EBV Infection

J Clin Immunol. 2024 May 17;44(5):118. doi: 10.1007/s10875-024-01712-x.


Deficiency of Adenosine Deaminase 2 (DADA2) patients presenting with primary immunodeficiency are at risk of uncontrolled EBV infection and secondary malignancies including EBV-related lymphoproliferative disorders (LPD). This paper describes the first case of EBV related diffuse large B-cell lymphoma in a patient with DADA2 and uncontrolled EBV infection. Consideration should be given to monitoring for EBV viraemia and to preventative EBV specific therapy in DADA2 and patients with at risk primary immunodeficiencies. A type I interferon (IFN) gene signature is associated with DADA2 though its association with immune dysregulation is unclear.

Keywords: Deficiency of Adenosine Deaminase 2; Diffuse Large B-cell Lymphoma; EBV.

Publication types

  • Case Reports

MeSH terms

  • Adenosine Deaminase* / deficiency
  • Adenosine Deaminase* / genetics
  • Epstein-Barr Virus Infections* / complications
  • Epstein-Barr Virus Infections* / diagnosis
  • Female
  • Hereditary Autoinflammatory Diseases
  • Herpesvirus 4, Human*
  • Humans
  • Intercellular Signaling Peptides and Proteins / deficiency
  • Intercellular Signaling Peptides and Proteins / genetics
  • Lymphoma, Large B-Cell, Diffuse* / diagnosis
  • Lymphoma, Large B-Cell, Diffuse* / etiology
  • Lymphoma, Large B-Cell, Diffuse* / genetics
  • Male


  • ADA2 protein, human

Supplementary concepts

  • deficiency of adenosine deaminase 2