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

Logan S Gardner; Lachlin Vaughan; Danielle T Avery; Isabelle Meyts; Cindy S Ma; Stuart G Tangye; Winny Varikatt; Ming-Wei Lin

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

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

Authors

Logan S Gardner^{1

2

3}, Lachlin Vaughan^{4

5}, Danielle T Avery⁶, Isabelle Meyts⁷, Cindy S Ma^{6

8

9}, Stuart G Tangye^{6

8

9}, Winny Varikatt^{4

10}, Ming-Wei Lin^{4

10

8}

Affiliations

¹ School of Public Health and Preventive Medicine, Monash University, Clayton, Australia. [email protected].
² ICPMR, NSW Health Pathology, Westmead Hospital, Sydney, Australia. [email protected].
³ Department of Immunology, Westmead Hospital, Westmead, Sydney, Australia. [email protected].
⁴ ICPMR, NSW Health Pathology, Westmead Hospital, Sydney, Australia.
⁵ The Lowy Cancer Research Centre, Kensington, Australia.
⁶ Garvan Institute of Medical Research, Darlinghurst, Australia.
⁷ Department of Immunology and Microbiology, Laboratory for Inborn Errors of Immunity, Department of Pediatrics, University Hospitals Leuven and KU Leuven, Leuven, EU, Belgium.
⁸ Clinical Immunogenomics Research Consortium of Australasia (CIRCA), Darlinghurst, Australia.
⁹ Faculty of Medicine and Health, St Vincent's Clinical School, UNSW Sydney, Sydney, Australia.
¹⁰ Faculty of Medicine, University of Sydney, Camperdown, Australia.

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

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

Substances

ADA2 protein, human

Supplementary concepts

deficiency of adenosine deaminase 2