Central Nervous System (CNS) T-Cell Lymphoma as the Presenting Manifestation of Late-Onset Combined Immunodeficiency

Late-onset combined immunodeficiency (LOCID), considered now a subset of common variable immunodeficiency (CVID) disorders, is characterized by a predominantly T-cell immune defect. LOCID has a distinct phenotype from CVID with a greater risk of lymphoproliferative complications. As compared to the...

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Main Authors: Anthony Jeffrey, Luke A. Coyle, Dishan Samaranayake, Therese Boyle, James Drummond, Suran L. Fernando
Format: Article
Language:English
Published: Wiley 2023-01-01
Series:Case Reports in Hematology
Online Access:http://dx.doi.org/10.1155/2023/6650410
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author Anthony Jeffrey
Luke A. Coyle
Dishan Samaranayake
Therese Boyle
James Drummond
Suran L. Fernando
author_facet Anthony Jeffrey
Luke A. Coyle
Dishan Samaranayake
Therese Boyle
James Drummond
Suran L. Fernando
author_sort Anthony Jeffrey
collection DOAJ
description Late-onset combined immunodeficiency (LOCID), considered now a subset of common variable immunodeficiency (CVID) disorders, is characterized by a predominantly T-cell immune defect. LOCID has a distinct phenotype from CVID with a greater risk of lymphoproliferative complications. As compared to the CVID cohort, LOCID patients also have increased rates of splenomegaly and granulomatous disease. We report a case of central nervous system (CNS) T-cell lymphoma in a 67-year-old male as the presenting manifestation of LOCID. The patient achieved a complete response to therapy after 4 cycles of MATRix (methotrexate, cytarabine, and thiotepa) and 2 cycles of ICE (etoposide, carboplatin, and ifosfamide) chemotherapy followed by CNS-directed autologous stem cell transplantation. Intravenous immunoglobulin replacement was commenced to address the underlying immunodeficiency. Pulmonary lesions consistent with a diagnosis of granulomatous and lymphocytic interstitial lung disease (GLILD) were identified as a second noninfectious complication of LOCID. The pulmonary lesions resolved after chemotherapy and immunoglobulin replacement. The patient remains well with no evidence of disease recurrence now more than 18 months after completion of therapy. This is the first reported case of T-cell lymphoma in an adult patient with LOCID. Further study is needed to elucidate the mechanisms of transformation of B- or T-cells to lymphoproliferation in primary immunodeficiency patients as well as research to inform evidence-based therapeutic strategies for this challenging cohort of patients.
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spelling doaj-art-0955236536d14ae79648acaeb44eb7a22025-08-20T03:55:29ZengWileyCase Reports in Hematology2090-65792023-01-01202310.1155/2023/6650410Central Nervous System (CNS) T-Cell Lymphoma as the Presenting Manifestation of Late-Onset Combined ImmunodeficiencyAnthony Jeffrey0Luke A. Coyle1Dishan Samaranayake2Therese Boyle3James Drummond4Suran L. Fernando5Department of HaematologyDepartment of HaematologyDepartment of HaematologyDepartment of Clinical Immunology and AllergyDepartment of RadiologyDepartment of MedicineLate-onset combined immunodeficiency (LOCID), considered now a subset of common variable immunodeficiency (CVID) disorders, is characterized by a predominantly T-cell immune defect. LOCID has a distinct phenotype from CVID with a greater risk of lymphoproliferative complications. As compared to the CVID cohort, LOCID patients also have increased rates of splenomegaly and granulomatous disease. We report a case of central nervous system (CNS) T-cell lymphoma in a 67-year-old male as the presenting manifestation of LOCID. The patient achieved a complete response to therapy after 4 cycles of MATRix (methotrexate, cytarabine, and thiotepa) and 2 cycles of ICE (etoposide, carboplatin, and ifosfamide) chemotherapy followed by CNS-directed autologous stem cell transplantation. Intravenous immunoglobulin replacement was commenced to address the underlying immunodeficiency. Pulmonary lesions consistent with a diagnosis of granulomatous and lymphocytic interstitial lung disease (GLILD) were identified as a second noninfectious complication of LOCID. The pulmonary lesions resolved after chemotherapy and immunoglobulin replacement. The patient remains well with no evidence of disease recurrence now more than 18 months after completion of therapy. This is the first reported case of T-cell lymphoma in an adult patient with LOCID. Further study is needed to elucidate the mechanisms of transformation of B- or T-cells to lymphoproliferation in primary immunodeficiency patients as well as research to inform evidence-based therapeutic strategies for this challenging cohort of patients.http://dx.doi.org/10.1155/2023/6650410
spellingShingle Anthony Jeffrey
Luke A. Coyle
Dishan Samaranayake
Therese Boyle
James Drummond
Suran L. Fernando
Central Nervous System (CNS) T-Cell Lymphoma as the Presenting Manifestation of Late-Onset Combined Immunodeficiency
Case Reports in Hematology
title Central Nervous System (CNS) T-Cell Lymphoma as the Presenting Manifestation of Late-Onset Combined Immunodeficiency
title_full Central Nervous System (CNS) T-Cell Lymphoma as the Presenting Manifestation of Late-Onset Combined Immunodeficiency
title_fullStr Central Nervous System (CNS) T-Cell Lymphoma as the Presenting Manifestation of Late-Onset Combined Immunodeficiency
title_full_unstemmed Central Nervous System (CNS) T-Cell Lymphoma as the Presenting Manifestation of Late-Onset Combined Immunodeficiency
title_short Central Nervous System (CNS) T-Cell Lymphoma as the Presenting Manifestation of Late-Onset Combined Immunodeficiency
title_sort central nervous system cns t cell lymphoma as the presenting manifestation of late onset combined immunodeficiency
url http://dx.doi.org/10.1155/2023/6650410
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