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

Gonçalo Luzes Padeira, Catarina Araújo, Ana Isabel Cordeiro, João Freixo, Catarina Gregório Martins, João Farela Neves

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Article number654167
JournalFrontiers in Immunology
Volume12
DOIs
Publication statusPublished - 28 Apr 2021

Keywords

  • case report
  • EBV
  • ICF-2
  • lymphoproliferation
  • Primary immune deficiencies

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