Case Presentation: Large Diffuse B-cell Lymphoma Developing in the Context of Primary Immunodeficiency
Abstract
Ataxia Telangiectasia (AT) is a rare, autosomal recessive neurodegenerative disorder characterized by immunodeficiency. Clinically, it is known to be associated with progressive cerebellar ataxia starting in early childhood, oculocutaneous telangiectasia, cellular and humoral immunodeficiency, and an associated increased risk of cancer. A 9-year-old female patient diagnosed with ataxia telangiectasia presented to the immunology outpatient clinic with complaints of difficulty breathing and snoring. Examination revealed an ulcerative vegetative mass obstructing the airway in the palate. The patient also presented with white plaques on her tongue, raising the possibility of fungal infection or lymphoproliferative disease. A biopsy of the palatal lesion was performed, and the patient was diagnosed with Diffuse Large B-Cell Lymphoma. Cultures from the biopsy also revealed simultaneous Candida albicans growth. This case highlights the increased risk of lymphoproliferative disorders in patients with primary immunodeficiency due to Ataxia Telangiectasia, which may present with a range of clinical manifestations. In this patient group, there is a potential association with invasive infections and malignancy, underscoring the need for clinicians to consider further investigations and, if necessary, perform a biopsy to support the diagnosis in cases of clinical suspicion.
References
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Abstract
References
- Spector BD, Filipovich AH, Perry GS III, Kersey JH. (1982). Epidemiology of cancer in ataxia-telangiectasia. In: Bridges BA, Hamden DG (eds) Ataxiatelangiectasia: A cellular and molecular link between cancer, neuropathology, and immunodeficiency. Wiley, New York, pp 103-138. google scholar
- Kersey JH, Shapiro RS, Filipovich AH. (1988). Relationship of immunodeficiency to lymphoid malignancy. Pediatr Infect Dis J, 7: 10-12. google scholar
- Herber, M., Mertz, P., Dieudonné, Y., Guffroy, B., Jung, S., Gies, V., … Guffroy, A. (2019). Primary immunodeficiency and lymphoma: a systematic review of literature. Leukemia & Lymphoma, 1–11. doi: 10.1080/10428194.2019. google scholar
- Donzel M, Bonjour M, Combes, J. D., Broussais, F., Sesques, P., Traverse-Glehen, A., de Martel, C. (2022). Lymphomas associated with Epstein–Barr virus infection in 2020: Results from a large, unselected case series in France. EClinicalMedicine, 54: 101674. doi: 10.1016/j.eclinm.2022.101674. PMID: 36204003; PMCID: 36220204003 PMC9531037. google scholar
- Boultwood J. (2001). Ataxia telangiectasia gene mutations in leukemia and lymphoma. J Clin Pathol, 54(7): 512-516. doi: 10.1136/jcp.54.7.512. PMID: 11429421; PMCID: PMC1731462. google scholar
- Recommandations sur les prophylaxies anti-infectieuses au cours des deficits immunitaires héréditaires. Unraveling fungal immunity through primary immune deficiencies, Curr Opin Microbiol, 15: 420-426, 2012. DOI: http://dx.doi.org/10.1016/j. mib.2012.06.003. google scholar
Details
| Primary Language | English |
|---|---|
| Subjects | Pediatric Hematology and Oncology, Pediatric Immunology and Allergic Diseases |
| Journal Section | Case Report |
| Authors | |
| Publication Date | February 24, 2025 |
| Submission Date | November 9, 2024 |
| Acceptance Date | November 12, 2024 |
| Published in Issue | Year 2024 |