1. ¹Hematology Unit, Department of Pediatric Hemato-Oncology, G Gaslini Children's Hospital, Genova, Italy
2. ²Epidemiology and Biostatistics Section, Scientific Directorate, G Gaslini Children's Hospital, Genova, Italy
3. ³Department of Biochemistry and Medical Biotechnologies, University Federico II, Naples and CEINGE-Advanced Biotechnologies, Naples, Italy
4. ⁴Department of Hematology, Ospedale S Martino, Genova, Italy
5. ⁵Department of Pediatrics, University of Milan Bicocca, S Gerardo Hospital, Monza, Italy
6. ⁶Hematology and Oncology Clinic, Department of Pediatrics, University of Padova, Italy
7. ⁷Department of Cellular Biotechnologies and Hematology, University 'La Sapienza', Roma, Italy
8. ⁸Hematology Department, Ospedale San Camillo-Forlanini, Roma, Italy
9. ⁹Pediatric Hematology Unit, Ospedale Pausillipon, Napoli, Italy
10. ¹⁰Department of Pediatric Oncology, Ospedale Policlinico Gemelli, Roma, Italy
11. ¹¹Department of Pediatrics, Ospedale Regina Margherita, Torino, Italy

Correspondence: Dr C Dufour, Hematology Unit, Department of Pediatric Hematology Oncology and Bone Marrow Transplant, G Gaslini Childrens' Hospital, Largo G Gaslini 5, Genova 16148, Italy. E-mail: carlodufour@ospedale-gaslini.ge.it

Abstract

Aplastic anemia (AA) is a rare disease with a major autoimmune pathogenetic component. CTLA4 is a T-lymphocyte surface molecule involved in the maintenance of immune tolerance. Some polymorphisms associated with a reduced expression of CTLA4, and thus presumably with increased tendency to autoimmunity, have been associated with various autoimmune diseases. In this study, we evaluated the distribution of the low expression polymorphisms -318C>T and 49A>G of CTLA4 in a population of 67 patients with acquired AA and in 100 normal controls. There was no difference in the distribution of the tested polymorphism between patients and controls and, within the patient group, between those who responded to immunosuppression vs those who did not respond. This study indicates that the polymorphisms -318C>T and 49A>G of CTLA4 do not affect the risk of developing AA and do not influence the response to immunosuppression.