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

A clinical case study describes four pediatric/adolescent patients with chromosome 22q11.2 deletion syndrome and refractory immune thrombocytopenia. The patients were treated with low-dose Mycophenolate Mofetil for over 24 months, with longitudinal immunological monitoring via multiparametric flow cytometry. The document, authored by Cristina Cifaldi, was posted on figshare under a CC-BY-4.0 license.

Use Cases

• Analyzing treatment outcomes for refractory immune thrombocytopenia based on the described cohort of four patients.
• Studying longitudinal immunological biomarker changes based on the multiparametric flow cytometry investigations mentioned.
• Investigating the role of specific immune cell subsets (e.g., naïve CD4+ T cells, memory B cells, cTfh cells, Treg cells) in treatment response based on the described immunological features.
• Evaluating the potential of Mycophenolate Mofetil as a long-term therapy for autoimmune manifestations in 22q11.2 deletion syndrome based on the presented results.

Strengths

• Includes detailed longitudinal immunological data from four patients over more than 24 months.
• Provides specific clinical and immunological outcome measures, such as platelet counts and cell subset frequencies.

Limitations

• The dataset is a single 16.9 KB DOCX file; its scope is limited to a case study of four patients.
• Row count and column-level documentation are absent; data structure must be inferred from the narrative text.
• Description metadata is limited; actual data quality requires manual inspection after download.

Provenance

Source

figshare

Collection Method

Clinical case study and longitudinal immunological investigation.

Freshness

Last updated 2026-05-13 05:02:33; freshness should be verified.