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Case report: Invasive fungal infection in a patient with a rare CVID-causing gene (TNFRSF13B) mutation undergoing AML
Carine Tabak1, Stephen Hyter1, Abdulraheem Yacoub1
1Division of Hematologic Malignancies and Cellular Therapeutics, University of Kansas School of Medicine, Kansas City, MO, United States.
Abstract:
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.
Insights
Acute myeloid leukemia (AML) patients face high infection risks. A case revealed a TNFRSF13B mutation linked to invasive fungal infections at AML diagnosis, highlighting the need for early immunodeficiency screening.
Area of Science:
- Hematology
- Infectious Diseases
- Genetics
Background:
- Acute myeloid leukemia (AML) increases susceptibility to infections, especially invasive fungal infections (IFI).
- TNFRSF13B mutations are associated with B-cell dysfunction and immunodeficiency.
- Early identification of immunodeficiency is crucial for managing AML patients.
Observation:
- A male patient in his 40s diagnosed with AML presented with concurrent pulmonary and sinus mucormycosis.
- Next-generation sequencing revealed a loss-of-function mutation in the TNFRSF13B gene.
- The patient had invasive fungal infections at diagnosis, preceding neutropenia, suggesting an underlying immunodeficiency.
Findings:
- The co-occurrence of AML and invasive fungal infections at diagnosis, without neutropenia, points to a potential immunodeficiency syndrome.
- A TNFRSF13B mutation was identified as a contributing factor to the patient's compromised immune status.
- This case underscores the complex interplay between malignancy, treatment, and immune function.
Implications:
- Early detection of immunodeficiency syndromes in AML patients is critical for timely intervention.
- Next-generation sequencing plays a vital role in identifying genetic risk factors for infections in cancer patients.
- Managing concurrent infections and malignancies requires a careful, individualized treatment approach.
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