VARIABILITY OF CLINICAL AND IMMUNOLOGICAL PHENOTYPE IN IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME - REPORT OF 2 NEWPATIENTS AND REVIEW OF THE LITERATURE

Immunodeficiency-centromeric instability-facial anomalies (ICF) syndro me is a condition characterized by variable combined immunodeficiency, developmental delay, facial anomalies and a variety of structural chr omosomal rearrangements, Recently, aberrations at the molecular level have been described consisting of alterations in the methylation patte rn of classical satellite DNA. To our knowledge 15 subjects have been described so far in the literature showing marked phenotypic variabili ty. We report on two new patients with normal development and some pec uliar clinical and immunological manifestations. All patients previous ly reported in the literature are reviewed. Conclusion The identificat ion of these two cases among our hypogammaglobulinaemic patients sugge sts that ICF syndrome is not a rare disorder and it should be always t aken into account in immunodeficient patients with facial abnormalitie s.