Refractory immune cytopenia successfully treated with mycophenolate mofetil in four adolescents with del22q11.2 syndrome - Takeaways - 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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  • 1

    Mycophenolate Mofetil (MMF) effectively managed refractory immune thrombocytopenia in four adolescents with 22q11.2 deletion syndrome.

  • 2

    All patients achieved platelet stabilization, with three attaining complete remission after over 24 months of MMF treatment.

  • 3

    Immunological assessments revealed distinct characteristics, including reduced naïve CD4+ T cells and increased cTfh cells in patients.

  • 4

    MMF therapy led to a decrease in cTfh frequency and PD-1 expression, alongside a moderate restoration of regulatory T cells.

  • 5

    The study suggests that immunological biomarkers may guide treatment responses and help clinicians select targeted therapies.

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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