Tuftsin deficiency

Tuftsin is a biologically active tetrapeptide (Thr-Lys-Pro-Arg) that stimulates the functions of macrophages and polymorphonuclear granulocytes, such as motility, phagocytosis, immunogenicity, hexose monophosphate shunt activation and bactericidal and tumoricidal activities [1]. Tuftsin deficiency can be both congenital and acquired. The congenital form derives from a mutation in tuftsin tetrapeptide. The clinical manifestations are related to widespread infections, which are particularly severe in early childhood, while adults only present with mild symptoms or can even be asymptomatic. The most common infections involve the respiratory tract (pharingytis, tonsilitis, bronchitis, pneumonia) and skin and can be complicated by septicemia. Streptococcus pneumoniae, Staphylococcus aureus and Candida albicans are the most frequent causative agents [2]. Acquired tuftsin deficiency has been documented in different conditions sharing a reduced splenic function, such as splenectomy, myelocytic leukemia or myelofibrosis, idiopathic thrombocytopenic purpura, sickle cell disease, acquired immunodeficiency syndrome and acquired immunodeficiency syndrome related complex, short bowel syndrome, coeliac disease and liver cirrhosis [2-4]. All these conditions are characterized by increased susceptibility to bacterial infections and it is likely that tuftsin deficiency contributes to this abnormality.