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

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

Istituto "Giannina Gaslini"

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 language	English
Pages (from-to)	329-331
Number of pages	3
Journal	Haematologica
Volume	87
Issue number	3
Publication status	Published - 2002

Keywords

FISH
ICF syndrome
Immunodeficiency
Juxtacentromeric abnormalities

ASJC Scopus subject areas

Hematology

Cite this

A novel case of immunodeficiency, centromeric instability, and facial anomalies (the ICF syndrome) : Immunologic and cytogenetic studies. / Pezzolo, Annalisa ; Prigione, Ignazia; Chiesa, Sabrina; Castellano, Emanuela; Gimelli, Giorgio; Pistoia, Vito.

In: Haematologica, Vol. 87, No. 3, 2002, p. 329-331.

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

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AB - 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.

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

Abstract

Keywords

ASJC Scopus subject areas

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