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Case report: Invasive fungal infection in a patient with a rare CVID-causing gene (TNFRSF13B) mutation undergoing AML treatment

Acute myeloid leukemia (AML) is a complex diagnosis that puts patients at a higher risk for developing infections, particularly invasive fungal infections (IFI). Mutations in TNFRSF13B have been shown to cause dysfunction in B-cell homeostasis and differentiation, making it a risk factor for develop...

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Autores principales: Tabak, Carine, Hyter, Stephen, Yacoub, Abdulraheem, Byrd, Kenneth, McGuirk, Joseph, Godwin, Andrew K., Abdelhakim, Haitham
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10050568/
https://www.ncbi.nlm.nih.gov/pubmed/37007115
http://dx.doi.org/10.3389/fonc.2023.1017230
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author Tabak, Carine
Hyter, Stephen
Yacoub, Abdulraheem
Byrd, Kenneth
McGuirk, Joseph
Godwin, Andrew K.
Abdelhakim, Haitham
author_facet Tabak, Carine
Hyter, Stephen
Yacoub, Abdulraheem
Byrd, Kenneth
McGuirk, Joseph
Godwin, Andrew K.
Abdelhakim, Haitham
author_sort Tabak, Carine
collection PubMed
description Acute myeloid leukemia (AML) is a complex diagnosis that puts patients at a higher risk for developing infections, particularly invasive fungal infections (IFI). Mutations in TNFRSF13B have been shown to cause dysfunction in B-cell homeostasis and differentiation, making it a risk factor for developing immunodeficiency syndromes. In this case, a male patient in his 40s presented to our emergency department (ED) with symptoms leading to a diagnosis of AML with concurrent mucormycosis of the lungs and sinuses. Targeted next generation sequencing (NGS) of the patient’s bone marrow showed, among other variants, a loss of function mutation in the TNFRSF13B gene. While most patients present with fungal infections after prolonged periods of neutropenia associated with AML treatment, this case presented with IFI at diagnosis without neutropenia suggesting an immunodeficiency syndrome. The concurrent IFI and AML diagnoses create a delicate balance between treatment of the infection and the malignancy. This case highlights the risk of infection in patients receiving chemotherapy, especially those with unrecognized immunodeficiency syndromes, and emphasizes the importance of NGS for prognosis and treatment.
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spelling pubmed-100505682023-03-30 Case report: Invasive fungal infection in a patient with a rare CVID-causing gene (TNFRSF13B) mutation undergoing AML treatment Tabak, Carine Hyter, Stephen Yacoub, Abdulraheem Byrd, Kenneth McGuirk, Joseph Godwin, Andrew K. Abdelhakim, Haitham Front Oncol Oncology Acute myeloid leukemia (AML) is a complex diagnosis that puts patients at a higher risk for developing infections, particularly invasive fungal infections (IFI). Mutations in TNFRSF13B have been shown to cause dysfunction in B-cell homeostasis and differentiation, making it a risk factor for developing immunodeficiency syndromes. In this case, a male patient in his 40s presented to our emergency department (ED) with symptoms leading to a diagnosis of AML with concurrent mucormycosis of the lungs and sinuses. Targeted next generation sequencing (NGS) of the patient’s bone marrow showed, among other variants, a loss of function mutation in the TNFRSF13B gene. While most patients present with fungal infections after prolonged periods of neutropenia associated with AML treatment, this case presented with IFI at diagnosis without neutropenia suggesting an immunodeficiency syndrome. The concurrent IFI and AML diagnoses create a delicate balance between treatment of the infection and the malignancy. This case highlights the risk of infection in patients receiving chemotherapy, especially those with unrecognized immunodeficiency syndromes, and emphasizes the importance of NGS for prognosis and treatment. Frontiers Media S.A. 2023-03-15 /pmc/articles/PMC10050568/ /pubmed/37007115 http://dx.doi.org/10.3389/fonc.2023.1017230 Text en Copyright © 2023 Tabak, Hyter, Yacoub, Byrd, McGuirk, Godwin and Abdelhakim https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Oncology
Tabak, Carine
Hyter, Stephen
Yacoub, Abdulraheem
Byrd, Kenneth
McGuirk, Joseph
Godwin, Andrew K.
Abdelhakim, Haitham
Case report: Invasive fungal infection in a patient with a rare CVID-causing gene (TNFRSF13B) mutation undergoing AML treatment
title Case report: Invasive fungal infection in a patient with a rare CVID-causing gene (TNFRSF13B) mutation undergoing AML treatment
title_full Case report: Invasive fungal infection in a patient with a rare CVID-causing gene (TNFRSF13B) mutation undergoing AML treatment
title_fullStr Case report: Invasive fungal infection in a patient with a rare CVID-causing gene (TNFRSF13B) mutation undergoing AML treatment
title_full_unstemmed Case report: Invasive fungal infection in a patient with a rare CVID-causing gene (TNFRSF13B) mutation undergoing AML treatment
title_short Case report: Invasive fungal infection in a patient with a rare CVID-causing gene (TNFRSF13B) mutation undergoing AML treatment
title_sort case report: invasive fungal infection in a patient with a rare cvid-causing gene (tnfrsf13b) mutation undergoing aml treatment
topic Oncology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10050568/
https://www.ncbi.nlm.nih.gov/pubmed/37007115
http://dx.doi.org/10.3389/fonc.2023.1017230
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