Contributions
Abstract: PB1826
Type: Publication Only
Background
Diamond Blackfan anemia (DBA) is a rare genetic disease charactherized with anemia, reticulocytopenia, paucity of erythroid precursors in the bone marrow, dysmorphic features and propensity for malignancy.
Aims
DBA is a ribosomopathy that affects mainly erythroid lineage, however as being a ribosomopathy it may have impact in other cell lines. Besides, there is limited data on the immunological status of DBA patients in the reported literature.
Methods
Out of 45 DBA patients, 32 (71%) were evaluated with serum immunoglobulin (Ig)A, IgG and IgM levels and 28 (62%) were evaluated with lymphocyte subset analyses. The values of the patients were compared to age appropriates.
Results
Of the 32 patients analyzed for Ig levels, 14 (43.7%) were found to have low levels of at least one type Ig. Two patients were found to have low IgA (6.2%), three (9.4%) had low IgM, four (12.5%) had low IgG, one (3.1%) had combined low levels of IgA and IgM, one (3.1%) had combined low levels of IgA and IgG, three (9.4%) had low levels of IgA, IgM and IgG at the same time compared to age appropriates. Six (21.4%) out of 28 patients analyzed for lymphocyte subsets were found to have low CD19+ B cells and four (14.3%) had low NK cells. Five of the patients analyzed for immunological status were found to have CECR1 gene mutation, causing ADA2 enzyme deficiency associated DBA-like phenotype. Of these five ADA2 deficient patients four (80%) were found to have low Ig levels and three (60%) had lymphocye subset abnormalities.
Conclusion
There is limited data on the immune status of patients with DBA. Our results indicate a high rate of immune function abnormalities in patients with DBA. ADA2 deficiency is autosomal recessively inherited and could be higher in rate in our study compared to other registries, related to higher rates of consanguineous marriages in our country. ADA2 deficiency has been reported to cause subtle immunological defects and mild immunodeficiency symptoms, in addition to DBA. hematological findings. This might also have contributed to higher rate of immune function abnormalities in our registry.
Session topic: 12. Bone marrow failure syndromes incl. PNH - Clinical
Keyword(s): Diamond-Blackfan anemia, Immunity
Abstract: PB1826
Type: Publication Only
Background
Diamond Blackfan anemia (DBA) is a rare genetic disease charactherized with anemia, reticulocytopenia, paucity of erythroid precursors in the bone marrow, dysmorphic features and propensity for malignancy.
Aims
DBA is a ribosomopathy that affects mainly erythroid lineage, however as being a ribosomopathy it may have impact in other cell lines. Besides, there is limited data on the immunological status of DBA patients in the reported literature.
Methods
Out of 45 DBA patients, 32 (71%) were evaluated with serum immunoglobulin (Ig)A, IgG and IgM levels and 28 (62%) were evaluated with lymphocyte subset analyses. The values of the patients were compared to age appropriates.
Results
Of the 32 patients analyzed for Ig levels, 14 (43.7%) were found to have low levels of at least one type Ig. Two patients were found to have low IgA (6.2%), three (9.4%) had low IgM, four (12.5%) had low IgG, one (3.1%) had combined low levels of IgA and IgM, one (3.1%) had combined low levels of IgA and IgG, three (9.4%) had low levels of IgA, IgM and IgG at the same time compared to age appropriates. Six (21.4%) out of 28 patients analyzed for lymphocyte subsets were found to have low CD19+ B cells and four (14.3%) had low NK cells. Five of the patients analyzed for immunological status were found to have CECR1 gene mutation, causing ADA2 enzyme deficiency associated DBA-like phenotype. Of these five ADA2 deficient patients four (80%) were found to have low Ig levels and three (60%) had lymphocye subset abnormalities.
Conclusion
There is limited data on the immune status of patients with DBA. Our results indicate a high rate of immune function abnormalities in patients with DBA. ADA2 deficiency is autosomal recessively inherited and could be higher in rate in our study compared to other registries, related to higher rates of consanguineous marriages in our country. ADA2 deficiency has been reported to cause subtle immunological defects and mild immunodeficiency symptoms, in addition to DBA. hematological findings. This might also have contributed to higher rate of immune function abnormalities in our registry.
Session topic: 12. Bone marrow failure syndromes incl. PNH - Clinical
Keyword(s): Diamond-Blackfan anemia, Immunity