Autor(es): Padeira, GL ; Araújo, C ; Cordeiro, AI ; Freixo, J ; Martins, CG ; Neves, JF
Data: 2021
Identificador Persistente: https://hdl.handle.net/10216/152497
Origem: Repositório Aberto da Universidade do Porto
Assunto(s): Case report; EBV; ICF-2; Lymphoproliferation; Primary immune deficiencies
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.
