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Article

Case Report: Sirolimus as management strategy for thrombocytopenia related to ARPC1B deficiency.

Frontiers in immunology - 1 Jan 2026

Dell'Orso Gianluca, Guardigni Martina, Palmisani Elena, Drago Enrico, Penco Federica, Prigione Ignazia, Conteduca Giuseppina, Baselli Lucia Augusta, Rossano Martina, Lemmi Damiano, Giarratana Maria Carla, Mariani Eugenia, Arcuri Luca, Volpi Stefano, Miano Maurizio

Abstract excerpt

Biallelic mutations in ARPC1B gene are responsible for an inborn error of immunity (IEI) characterized by thrombocytopenia and combined immunodeficiency with heterogeneous immune-dysregulatory features. Sirolimus is a mammalian target of rapamycin (mTOR) inhibitor, which is successfully used in patients affected by primary or secondary autoimmune cytopenias. We report the case of a patient suffering from...

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Identifiers

PMID: 42614194
DOI: 10.3389/fimmu.2026.1845298
PMCID: PMC13481239

Genes

ARPC1B

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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