title: A novel case of immunodeficiency, centromeric instability, and facial anomalies (the ICF syndrome): immunologic and cytogenetic studies.
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.
authors.forename: Annalisa
authors.initials: A
authors.lastname: Pezzolo
authors.forename: Ignazia
authors.initials: I
authors.lastname: Prigione
authors.forename: Sabrina
authors.initials: S
authors.lastname: Chiesa
authors.forename: Emanuela
authors.initials: E
authors.lastname: Castellano
authors.forename: Giorgio
authors.initials: G
authors.lastname: Gimelli
authors.forename: Vito
authors.initials: V
authors.lastname: Pistoia
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000473:pathology; D000328:Adult; D001402:B-Lymphocytes / Q000473:pathology; D016516:CD4-CD8 Ratio; D002503:Centromere / Q000473:pathology; D005145:Face / Q000002:abnormalities; D006801:Humans; D006942:Hypergammaglobulinemia / Q000209:etiology; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis* / Q000473:pathology; D008297:Male; D013577:Syndrome