PMC10331599_01
PMC10331599_02
Schematic representation of immunological, molecular, and biochemical parameters and HIS-directed therapy in case 2. (A) Kinetics of lymphocytes subpopulations (CD3+,CD3+CD4+,CD3+CD8+,CD19+,CD16+CD156+) post HSC-GT over time (upper panel) and HIS-directed therapies (numbers indicate starting dose and maximum dose used) (lower panel); (B) Vector copy number in lymphocytes subpopulations (CD3+,CD19+,CD56+) and granulocytes (CD15+) and ADA-SCID biochemical analysis (ADA activity on mononuclear cells and purine metabolites in red blood cells). MNC, mononucleated cells; dAXP, Deoxyadenosine nucleotide percentage; RBC, red blood cells; d, days; B/L, baseline.
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The patient's lymphocyte counts and subpopulations were progressively improving, although mild lymphopenia for their age was still present ( Figure 1 ). CD16+CD56+ were within normal limits, with a good naive/memory ratio. CD3+CD8+ and B cells were lower than normal for age in particular CD3+ count was more than 0.5 x 109/l, and CD3+CD8+ count was more than 0.2 x 109/l with adequate proliferative response to mitogens. ( Figure 1 ). CD56+ subpopulation ( Figure 1 ). VZV DNA on plasma was negative ( Table 1 ). Coagulopathy was observed with APTT < 23 sec, and factor VIII (300%, nv 65-140) without evidence of thrombosis. Immunosuppressive therapy was optimized by increasing the dose of corticosteroids, starting Cyclosporin A (CyA) and an anti-IL1 receptor antagonist (Anakinra) ( Figure 1 ).