Sindromi, genetica e immunologia: dall’inizio della fine alla fine dell’inizio

Abstract

Syndromic immunodeficiencies are defined as a group of immunodeficiencies in which the immunological defect may be found only in a subgroup of patients. They fall within a more complex clinical picture and may not represent the primary clinical problem (i.e. DiGeorge syndrome, ataxia-telangiectasia, CHARGE syndrome, Kabuki syndrome etc.). Along with well-known and recognized syndromic immunodeficiencies, immunological abnormalities have been recently described in genetic syndromes that were not previously considered as inborn errors of immunity. The paper describes the cases of two patients affected by two rare genetic syndromes, namely Jacobsen syndrome and Rubinstein-Taybi syndrome. In the first case, the immunological phenotype of Jacobsen syndrome has been expanded. In the second, the growing body of evidence has pointed out that patients with Rubinstein-Taybi syndrome may present with immunological abnormalities.