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Case Reports
. 2024 Sep 12;45(1):8.
doi: 10.1007/s10875-024-01794-7.

Successful Long-Term Enzyme Replacement Therapy in a Patient with Delayed-Onset ADA Deficiency

Vasil Toskov  1 , Pawan Bali  2 , Michael S Hershfield  2 , Stephan Ehl  3 , Carsten Speckmann  4   5
Affiliations
Case Reports

Successful Long-Term Enzyme Replacement Therapy in a Patient with Delayed-Onset ADA Deficiency

Vasil Toskov et al. J Clin Immunol. .
No abstract available

Keywords: ADA deficiency; Delayed-onset; Enzyme replacement therapy; Hypomorphic ADA.

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Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
The course of lymphocyte subsets in relation to ADA activity and dAXP. Top panel: lymphocyte subset course determined via flow cytometry before and during ERT with ADAGEN®/REVCOVI®. Black line indicates CD4 + cells, spotted gray line CD8 + cells, gray line CD19 + cells, and gray dashed line CD16/56 + cells. Bottom panel: ADA activity (green dashed line) and total adenine deoxyribonucleotides (dAXP) levels (red line) as determined by the analysis of dried blood spots prepared with whole EDTA blood from the time point of diagnosis until 155 months after the initiation of ERT. The vertical arrow signifies the dose increase of ADAGEN®. Reference values > 18 years of age [10]: CD4 + cells (28–57%, 300–1400 counts/µl), CD8 + cells (10–39%, 200–900 counts/µl), CD19 + cells (6–19%, 100–500 counts/µl), CD56 + cells (7–31%, 90–600 counts/µl)
See this image and copyright information in PMC

References

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