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Autoinflammatory Diseases Unit

As seen in: Frontiers in Immunology
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Articles

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

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By Lucia Augusta, Maria Carla, Autoinflammatory Diseases Unit
| Frontiers in Immunology
Abstract 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.
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