Refractory Immune Cytopenia Treatment in Four Adolescents with 22q11.2 Deletion Syndrome

Cristina Cifaldi presents a clinical case series of four pediatric/adolescent patients with chromosome 22q11.2 deletion syndrome and refractory immune thrombocytopenia. The dataset describes a treatment regimen using low-dose Mycophenolate Mofetil over more than 24 months, monitored with blood counts, EBV viremia, and multiparametric flow cytometry. Results include platelet stabilization and changes in specific immunological biomarkers.

Use Cases

• Analyze treatment efficacy for refractory immune thrombocytopenia based on platelet count stabilization data.
• Study longitudinal immunological biomarker changes based on flow cytometry results for naive CD4+ T cells, memory B cells, cTfh cells, and Treg cells.
• Investigate the relationship between Mycophenolate Mofetil therapy and EBV viremia monitoring data.
• Explore immunological features of immunodysregulation in 22q11.2 deletion syndrome based on the described patient cohort.

Strengths

• Includes longitudinal data spanning more than 24 months of treatment.
• Contains detailed immunological biomarker data from multiparametric flow cytometry.
• Focuses on a specific, rare patient cohort of four adolescents with 22q11.2 deletion syndrome.

Limitations

• Dataset is a 17.9 KB DOCX file, suggesting limited raw data scope.
• Row count and column-level documentation are unknown.
• Description metadata is limited; actual data quality requires manual inspection after download.

Provenance

Source

Cristina Cifaldi via figshare.

Collection Method

Clinical case series investigation of four patients.

Freshness

Last updated 2026-05-13 05:02:37; freshness should be verified.