L’ipogammaglobulinemia che aiuta a spiegare una anemia microcitica di difficile interpretazione

The case of a 3-month-year old child presenting with microcytic anaemia is described. He subsequently developed viral encephalitis. The presence of hypogammaglobulinemia and of a mutation in TRNT1 gene at the genome analysis (NSC) led to the diagnosis of SFID syndrome (sideroblastic anaemia, periodic fever, hypogammaglobulinemia, mental disability).