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Article

Mosaic variants in KRAS and STAT5B associated with a mixed phenotype of 2 acquired errors of immunity.

The Journal of allergy and clinical immunology - 1 May 2026

Forkgen Julia, Masle-Farquhar Etienne, Fontaine Yves, Russell Amanda, Ji Shannon, Peters Timothy J, Qiao Zhen, Geaghan Michael, Jackson Katherine J L, Hammond Jillian M, Deveson Ira W, David Clementine, Lemberg Daniel A, Gupta Nitin, Fuentes-Bolanos Noemi, Mustjoki Satu, Hwa Vivian, Tangye Stuart G, Gray Paul E, Siggs Owen M

Abstract excerpt

BACKGROUND: Mosaic genetic variation has been implicated in the pathogenesis of both malignant and nonmalignant immunologic diseases. OBJECTIVE: We sought to investigate a unique case of postnatal acquisition of a gain-of-function (GoF) KRAS variant, with an additional GoF STAT5B variant, in an 18-year-old woman with inflammatory bowel disease, splenomegaly, thrombocytopenia, bronchiectasis, monocytosis, and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41628732
DOI: 10.1016/j.jaci.2026.01.018

Genes

STAT5B
KRAS
CD24

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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