Refractory immune cytopenia successfully treated with mycophenolate mofetil in four adolescents with del22q11.2 syndrome - Summary - MDSpire

Refractory immune cytopenia successfully treated with mycophenolate mofetil in four adolescents with del22q11.2 syndrome

  • By

  • Cristina Cifaldi

  • Lucia Pacillo

  • Chiara Rossetti

  • Silvia Di Cesare

  • Michele La Manna

  • Veronica Santilli

  • Beatrice Rivalta

  • Elisabetta Lembo

  • Mattia Moratti

  • Lucia Colucci

  • Gigliola Di Matteo

  • Paolo Palma

  • Federica Pulvirenti

  • Emma Concetta Manno

  • Giuseppe Palumbo

  • Donato Amodio

  • Caterina Cancrini

  • May 13, 2026

  • 0 min

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Objective:

To evaluate the effectiveness of low-dose Mycophenolate Mofetil (MMF) in managing refractory immune thrombocytopenia (ITP) in adolescents with 22q11.2 deletion syndrome (22q11DS), particularly in the context of their immune dysregulation.

Key Findings:
  • None of the patients experienced relapse after starting MMF treatment.
  • Three out of four patients achieved complete remission with platelet counts exceeding 100,000/uL.
  • Immunological assessments revealed diminished nave CD4+ T cells, increased cTfh cells, and decreased Treg cells, indicating significant immunodysregulation.
Interpretation:

MMF therapy resulted in sustained platelet stabilization and potential immunological improvements in patients with refractory ITP associated with 22q11DS.

Limitations:
  • Small sample size of only four patients limits generalizability.
  • Long-term effects and safety of MMF in this population require further investigation.
  • The absence of a control group limits the ability to draw definitive conclusions.
Conclusion:

Low-dose MMF may be an effective treatment for refractory ITP in adolescents with 22q11DS, with specific immunological markers potentially aiding in treatment response evaluation. Further studies are needed to validate these findings.

Original Source(s)

Refractory immune cytopenia successfully treated with mycophenolate mofetil in four adolescents with del22q11.2 syndrome

  • by Cristina Cifaldi, Lucia Pacillo, Chiara Rossetti, Silvia Di Cesare, Michele La Manna, Veronica Santilli, Beatrice Rivalta, Elisabetta Lembo, Mattia Moratti, Lucia Colucci, Gigliola Di Matteo, Paolo Palma, Federica Pulvirenti, Emma Concetta Manno, Giuseppe Palumbo, Donato Amodio, Caterina Cancrini

  • May 13, 2026

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