A novel case of immunodeficiency, centromeric instability, and facial anomalies (the ICF syndrome): Immunologic and cytogenetic studies

Annalisa Pezzolo, Ignazia Prigione, Sabrina Chiesa, Emanuela Castellano, Giorgio Gimelli, Vito Pistoia

Research output: Contribution to journal › Article › peer-review

Abstract

The immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is characterized by hypogammaglobulinemia and recurrent bacterial infections. Here we report a novel case of ICF syndrome with hypogammaglobulinemia and an inverted CD4/CD8 ratio. Cytogenetically abnormal cells, that were identified in both CD4+ and CD4- peripheral blood lymphocytes, retained their ability to proliferate in vitro following polyclonal stimulation. A primitive defect of B-cell differentiation was detected.

Original languageEnglish
Pages (from-to)329-331
Number of pages3
JournalHaematologica
Volume87
Issue number3
Publication statusPublished - 2002

Keywords

  • FISH
  • ICF syndrome
  • Immunodeficiency
  • Juxtacentromeric abnormalities

ASJC Scopus subject areas

  • Hematology

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