1 - Hospital de Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central, Lisbon, Portugal
2 - Departamento de Anatomia Patológica, Centro Hospitalar Universitário de Lisboa Central, Lisbon, Portugal
3 - Centro de Genética Preditiva e Preventiva, Instituto de Biologia Molecular e Celular, Instituto de Investigação e Inovação em Saúde, Porto, Portugal
4 - CEDOC, Chronic Diseases Research Center, NOVA Medical School, Lisbon, Portugal
5 - Comprehensive Health Research Centre (CHRC), NOVA Medical School, Nova University of Lisbon, Lisbon, Portugal
Publicação em versão integral:
- Frontiers in Immunology
- doi: 10.3389/fimmu.2021.654167
Resumo: In immunocompromised patients, EBV may elicit B-cell transformation and proliferation. A 5-year-old microcephalic boy was admitted with fever and non-malignant polymorphic T-cell lymphoproliferative disease associated with EBV. A presumptive diagnosis of primary immunodeficiency with inability to control EBV was made and next-generation sequencing led to the identification of a novel ZBTB24 mutation (ICF2-syndrome). This case shows that susceptibility to EBV seems to be particular of ICF-2 as it has not been described in the other types of ICF. It is mandatory to raise the hypothesis of an underlying PID in case of severe EBV infection.
Palavras Chave: case report, EBV, ICF-2, lymphoproliferation, Primary immune deficiencies