Case Report: Primary Immunodeficiencies, Massive EBV+ T-Cell Lympoproliferation Leading to the Diagnosis of ICF2 Syndrome

• Author(s): Padeira, GL ; Araújo, C ; Cordeiro, AI ; Freixo, J ; Martins, CG ; Neves, JF
• Date: 2021
• Persistent ID: http://hdl.handle.net/10400.17/3693
• Origin: Repositório do Centro Hospitalar de Lisboa Central, EPE
• Subject(s): EBV; ICF-2; Primary immune deficiencies; Lymphoproliferation; Case report; HDE PED
• Document Type: Journal article
• Language: English
• Contributor(s): Repositório da Unidade Local de Saúde São José

Description

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.