Impaired cellular and humoral immunity is a feature of Diamond-Blackfan anaemia; experience of 107 unselected cases in the United Kingdom.

Abstract:

: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.

journal_name

Br J Haematol

authors

Iskander D,Roberts I,Rees C,Szydlo R,Alikian M,Neale M,Harrington Y,Kelleher P,Karadimitris A,de la Fuente J

doi

10.1111/bjh.15915

subject

Has Abstract

pub_date

2019-07-01 00:00:00

pages

321-326

issue

2

eissn

0007-1048

issn

1365-2141

journal_volume

186

pub_type

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