EBV-Related Hodgkin Lymphoma in an ICF2 Patient: Is EBV Susceptibility a Hallmark of This ICF Subtype?
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To the Editor,
Immunodeficiency, centromeric region instability, and facial anomalies syndrome (ICF) is a rare autosomal recessive disorder caused by defective DNA methylation. So far, approximately 70 cases have been reported: 56% have mutations in DNMT3B (ICF1), 31% in ZBTB24 (ICF2), and the remaining 13% in CDCA7 (ICF3) or HELLS (ICF4) .
Regardless of ICF subtype, the main clinical manifestations are recurrent and severe infections due to the underlying immunodeficiency, in particular T cell lymphocytopenia and/or hypo/agammaglobulinemia and facial abnormalities, such as epicanthus, low-set ears, hypertelorism, flat nasal bridge, telecanthus, and a round face.
We describe the history of an ICF2 patient who had a chronic EBV infection and developed aggressive Hodgkin lymphoma (HL). The clinical history and the revision of literature reveal that ICF2 patients have a predisposition to EBV infection with severe complications.
The patient was born from Italian,...
We wish to thank Dr. Paola Campisi for providing the biopsy microscopical pictures.
Compliance with Ethical Standards
Conflict of Interest
The authors declare that they have no conflict of interest.
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