Diamond-Blackfan anaemia (DBA) is a rare bone marrow failure syndrome characterised by anaemia, congenital anomalies and cancer predisposition. Although infections are the second leading cause of mortality in non-transplanted patients, immune function is largely unexplored. We identified quantitative deficits in serum immunoglobulins and/or circulating T, natural killer and B lymphocytes in 59 of 107 unselected patients (55·1%) attending our centre over a 7-year period. Immune abnormalities were independent of ribosomal protein genotype and arose in both steroid-treated and steroid-untreated patients. In summary, these data highlight the high prevalence and spectrum of infections and immune defects in DBA.
Br J Haematol
321 - 326
Diamond-Blackfan, bone marrow failure, corticosteroids, immunodeficiency, red blood cell disorders, Adolescent, Anemia, Diamond-Blackfan, Child, Child, Preschool, Female, Genotype, Humans, Immunity, Cellular, Immunity, Humoral, Infant, Male, Ribosomal Proteins, United Kingdom