Article

Sequential mosaic variants in<i>KRAS</i>and<i>STAT5B</i>associated with a mixed phenotype of two acquired errors of immunity

2024-08-08

Abstract excerpt

Mosaic genetic variation has been implicated in the pathogenesis of both malignant and non-malignant immunological disease. Here, we report a unique case of postnatal acquisition of a gain-of-function (GoF) KRAS variant, with an additional GoF STAT5B variant, in a woman with inflammatory bowel disease, splenomegaly, thrombocytopenia, bronchiectasis, monocytosis, and eosinophilia. Targeted amplicon sequencing revea...

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Literature Corpus work: d15d58a4-2150-5ef5-bbfe-107ec1597b22
DOI: 10.1101/2024.08.07.24311150

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