Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

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.

Original publication

DOI

10.1111/bjh.15915

Type

Journal article

Journal

Br J Haematol

Publication Date

07/2019

Volume

186

Pages

321 - 326

Keywords

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