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

Haematologica. 2002 Mar;87(3):329-31.

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.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / pathology
  • Adult
  • B-Lymphocytes / pathology
  • CD4-CD8 Ratio
  • Centromere / pathology
  • Face / abnormalities
  • Humans
  • Hypergammaglobulinemia / etiology
  • Immunologic Deficiency Syndromes / diagnosis*
  • Immunologic Deficiency Syndromes / pathology
  • Male
  • Syndrome