First occurrence of plasmablastic lymphoma in adenosine deaminase-deficient severe combined immunodeficiency disease patient and review of the literature

M Migliavacca, A Assanelli, M Ponzoni, R Pajno, Federica Barzaghi, Fabio Giglio, F Ferrua, M Frittoli, I Brigida, F Dionisio, R Nicoletti, M Casiraghi, MG Roncarolo, C Doglioni, J Peccatori, F Ciceri, MP Cicalese, A Aiuti

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Abstract

Adenosine deaminase-deficient severe combined immunodeficiency disease (ADA-SCID) is a primary immune deficiency characterized by mutations in the ADA gene resulting in accumulation of toxic compounds affecting multiple districts. Hematopoietic stem cell transplantation (HSCT) from a matched donor and hematopoietic stem cell gene therapy are the preferred options for definitive treatment. Enzyme replacement therapy (ERT) is used to manage the disease in the short term, while a decreased efficacy is reported in the medium-long term. To date, eight cases of lymphomas have been described in ADA-SCID patients. Here we report the first case of plasmablastic lymphoma occurring in a young adult with ADA-SCID on long-term ERT, which turned out to be Epstein-Barr virus associated. The patient previously received infusions of genetically modified T cells. A cumulative analysis of the eight published cases of lymphoma from 1992 to date, and the case here described, reveals a high mortality (89%). The most common form is diffuse large B-cell lymphoma, which predominantly occurs in extra nodal sites. Seven cases occurred in patients on ERT and two after haploidentical HSCT. The significant incidence of immunodeficiency-associated lymphoproliferative disorders and poor survival of patients developing this complication highlight the priority in finding a prompt curative treatment for ADA-SCID. © 2018 Migliavacca, Assanelli, Ponzoni, Pajno, Barzaghi, Giglio, Ferrua, Frittoli, Brigida, Dionisio, Nicoletti, Casiraghi, Roncarolo, Doglioni, Peccatori, Ciceri, Cicalese and Aiuti.
Original languageEnglish
Article number113
JournalFrontiers in Immunology
Volume9
DOIs
Publication statusPublished - 2018

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