Unexpected genetically determined immune dysregulation with liver involvement: GIMAP5 therapeutic dilemmas between targeted therapy and HSCT - Takeaways - MDSpire

Unexpected genetically determined immune dysregulation with liver involvement: GIMAP5 therapeutic dilemmas between targeted therapy and HSCT

  • By

  • Mattia Moratti

  • Michele La Manna

  • Lucia Colucci

  • Cristina Cifaldi

  • Silvia Di Cesare

  • Gioacchino Andrea Rotulo

  • Beatrice Rivalta

  • Donato Amodio

  • Andrea Pietrobattista

  • Andrés Caballero-Oteyza

  • Elisabetta Lembo

  • Chiara Passarelli

  • Emma Concetta Manno

  • Michele Proietti

  • Gigliola Di Matteo

  • Giuseppe Palumbo

  • Caterina Cancrini

  • June 10, 2026

  • 0 min

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  • 1

    Biallelic GIMAP5 mutations lead to severe immune dysregulation, lymphoproliferation, and progressive liver disease, termed GISELL disease.

  • 2

    The proband exhibited autoimmune cytopenias, severe infections, and liver anomalies, linked to compound heterozygous GIMAP5 variants.

  • 3

    The dizygotic twin, a mono-allelic carrier, showed decreased protein expression but no immune defects, highlighting genotype-phenotype complexity.

  • 4

    Sirolimus effectively managed the proband's cytopenias, demonstrating the potential of targeted therapies in GIMAP5 deficiency.

  • 5

    The study emphasizes the need for careful evaluation of treatment options, balancing precision medicine against risks of hematopoietic stem cell transplantation.

Original Source(s)

Unexpected genetically determined immune dysregulation with liver involvement: GIMAP5 therapeutic dilemmas between targeted therapy and HSCT

  • by Mattia Moratti, Michele La Manna, Lucia Colucci, Cristina Cifaldi, Silvia Di Cesare, Gioacchino Andrea Rotulo, Beatrice Rivalta, Donato Amodio, Andrea Pietrobattista, Andrés Caballero-Oteyza, Elisabetta Lembo, Chiara Passarelli, Emma Concetta Manno, Michele Proietti, Gigliola Di Matteo, Giuseppe Palumbo, Caterina Cancrini

  • June 10, 2026

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