Kabuki syndrome (KS) is a rare genetic disease characterized by congenital malformations, growth deficiency, mental retardation and altered immune regulation [1]. Autoimmune cytopenias may develop throughout childhood, with immune-mediated thrombocytopenia (ITP) being the most prevalent one. Sporadic cases of immune-mediated haemolytic anaemia and neutropenia have also been reported [1,2]. The clinical course of two patients diagnosed with KS in infancy who developed cytopenia as young adults is described.
