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

Front Immunol. 2021 Apr 28:12:654167. doi: 10.3389/fimmu.2021.654167. eCollection 2021.

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.

Keywords: EBV; ICF-2; Primary immune deficiencies; case report; lymphoproliferation.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biomarkers
  • Biopsy
  • Child, Preschool
  • Disease Susceptibility
  • Epstein-Barr Virus Infections / complications*
  • Epstein-Barr Virus Infections / diagnosis
  • Epstein-Barr Virus Infections / virology
  • Herpesvirus 4, Human
  • Humans
  • Lymphoproliferative Disorders / diagnosis*
  • Lymphoproliferative Disorders / etiology*
  • Male
  • Primary Immunodeficiency Diseases / diagnosis*
  • Primary Immunodeficiency Diseases / etiology*
  • Symptom Assessment
  • T-Lymphocytes / immunology*
  • T-Lymphocytes / metabolism
  • T-Lymphocytes / pathology*
  • Tomography, X-Ray Computed

Substances

  • Biomarkers