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Case Reports
. 2024 May 17;44(5):118.
doi: 10.1007/s10875-024-01712-x.

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

Logan S Gardner  1   2   3 , Lachlin Vaughan  4   5 , Danielle T Avery  6 , Isabelle Meyts  7 , Cindy S Ma  6   8   9 , Stuart G Tangye  6   8   9 , Winny Varikatt  4   10 , Ming-Wei Lin  4   10   8
Affiliations
Case Reports

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

Logan S Gardner et al. J Clin Immunol. .

Abstract

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.

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Conflict of interest statement

No author have conflicts of interest related to the publishing of this article.

Figures

Fig. 1
Fig. 1
(a) CT scan through chest showing pulmonary granulomatous lesion (arrow head). (b) CT through abdomen showing lesions affecting the spleen (arrow heads) and liver (arrow). (c) PET scan though abdomen showing avid FDG lesions in the spleen (arrows) and liver (arrow head) in both organs. (d) Splenic biopsy (haematoxylin/eosin) showing large atypical lymphoid cells with an angiocentric growth. (e) Splenic biopsy CD30 stain highlighting the neoplastic B cells. (f) Splenic biopsy EBER stain. (g) Splenic biopsy CD20 stain showing neoplastic B cells with an angiocentric arrangement
Fig. 2
Fig. 2
Change in interferon score, EBV viral load and other clinical parameters during clinical presentation plotted against symptoms and key clinical events. Mild immune dysregulation consisted of cytopenias, raynauds and alopecia
See this image and copyright information in PMC

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