TY - JOUR
T1 - Case report
T2 - XMEN disease: a patient with recurrent Hodgkin lymphoma and immune thrombocytopenia
AU - de Groot, Pieter F.
AU - Kwakernaak, Arjan J.
AU - van Leeuwen, Ester M.M.
AU - van Spaendonk, Rosalina M.L.
AU - Kooi, Evert Jan
AU - de Jong, Daphne
AU - Kuijpers, Taco W.
AU - Zijlstra, Josée M.
AU - de Bree, Godelieve J.
N1 - Funding Information: The authors declare that no financial support was received for the research, authorship, and/or publication of this article. Publisher Copyright: Copyright © 2023 de Groot, Kwakernaak, van Leeuwen, van Spaendonk, Kooi, de Jong, Kuijpers, Zijlstra and de Bree.
PY - 2023
Y1 - 2023
N2 - Here we present the case of a 28-year-old man with X-linked immunodeficiency with magnesium defect, Epstein–Barr virus (EBV) infection and neoplasia (XMEN) disease. He presented with immune thrombocytopenia within 1 year after successful autologous hematopoietic stem cell transplantation for recurrent EBV-associated classical Hodgkin lymphoma (CHL). The combination of EBV- associated malignancy, autoimmunity, recurrent airway infections at young age and bronchiectasis, prompted immunological investigation for an inborn error of immunity (IEI). Genetic testing revealed XMEN disease. XMEN disease is characterized by a glycosylation defect due to mutations in the MAGT1 gene. Germline mutations in the MAGT1 gene disrupt glycosylation of the NKG2D receptor in immune cells, including natural killer and CD8-positive T cells, vital for immune surveillance, especially against EBV. Consequently, individuals with XMEN disease, are prone to EBV-associated lymphoproliferative disorders in addition to auto-immunity. Early recognition of adult onset IEI-related B-lymphoproliferative disorders, including CHL is of vital importance for treatment decisions, including (allogeneic) haematopoietic stem cell transplantation and family screening.
AB - Here we present the case of a 28-year-old man with X-linked immunodeficiency with magnesium defect, Epstein–Barr virus (EBV) infection and neoplasia (XMEN) disease. He presented with immune thrombocytopenia within 1 year after successful autologous hematopoietic stem cell transplantation for recurrent EBV-associated classical Hodgkin lymphoma (CHL). The combination of EBV- associated malignancy, autoimmunity, recurrent airway infections at young age and bronchiectasis, prompted immunological investigation for an inborn error of immunity (IEI). Genetic testing revealed XMEN disease. XMEN disease is characterized by a glycosylation defect due to mutations in the MAGT1 gene. Germline mutations in the MAGT1 gene disrupt glycosylation of the NKG2D receptor in immune cells, including natural killer and CD8-positive T cells, vital for immune surveillance, especially against EBV. Consequently, individuals with XMEN disease, are prone to EBV-associated lymphoproliferative disorders in addition to auto-immunity. Early recognition of adult onset IEI-related B-lymphoproliferative disorders, including CHL is of vital importance for treatment decisions, including (allogeneic) haematopoietic stem cell transplantation and family screening.
KW - Classical Hodgkin lymphoma (CHL)
KW - XMEN disease
KW - hematopoietic stem cell transplantation
KW - immune thrombocytopenia (ITP)
KW - inborn error of immunity
UR - http://www.scopus.com/inward/record.url?scp=85180690345&partnerID=8YFLogxK
U2 - https://doi.org/10.3389/fmed.2023.1264329
DO - https://doi.org/10.3389/fmed.2023.1264329
M3 - Article
C2 - 38143450
SN - 2296-858X
VL - 10
JO - Frontiers in Medicine
JF - Frontiers in Medicine
M1 - 1264329
ER -