Article

An N-of-1 Trial of Itacitinib for a Patient with Aplastic Anemia Associated with a Gain-of-Function Variant in STAT1

2021-01-08

Abstract excerpt

<title>Abstract</title> <p>An 18-year-old man presented with aplastic anemia, and exome sequencing identified a germline gain-of-function variant in the gene STAT1. Treatment with itacitinib, an investigational selective Janus Kinase 1 (JAK1) inhibitor, resulted in prompt recovery of hematopoiesis. An exhausted CD8+ T cell population and myeloid populations enriched for an interferon-<italic>y</italic> signature...

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Literature Corpus work: 2022f842-6fdc-569c-801f-5b2ef65b1974
DOI: 10.21203/rs.3.rs-139401/v1

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