Epstein-Barr Virus Associated with High-Grade B-Cell Lymphoma in Severe Combined Immunodeficiency

May 2019 in “ BMJ case reports ”

Rawia Albar, Moaffaq Mahdi, Fawaz Alkeraithe, Khalid Nawaf Almufarriji

Studysummary This report describes a rare case of severe combined immunodeficiency caused by a FOXN1 gene variant, complicated by Epstein-Barr virus infection and high-grade B-cell lymphoma, leading to the infant's death despite treatment efforts.

Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer

A 4-month-old boy with severe combined immunodeficiency (SCID) caused by a homozygous variant in the FOXN1 gene presented with fever, dry cough, runny nose, oral thrush, generalized lymphadenopathy, nail dystrophy, and alopecia. Flow cytometry of a lymph node biopsy revealed high-grade B-cell lymphoma, and PCR confirmed Epstein-Barr virus (EBV) infection. Despite initiating treatment for EBV infection and lymphoma, the patient passed away on day 45 of hospitalization.

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Research cited in this study

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