Pseudoexon Activation as a Novel Molecular Mechanism for Chediak-Higashi Syndrome.

Authors

Irem Eldem, David B Wilson, Alexa Dickson, Yang Cao, Sebastian Boluarte, Fan Yang, Regina A Clemens, Marwan S Shinawi, Jeffrey J Bednarski

Published in

Pediatric blood & cancer. Pages e70762. Oct 12, 2026. Epub Oct 12, 2026.

Abstract

Chediak-Higashi syndrome (CHS) is a hereditary predisposition to hemophagocytic lymphohistiocytosis. We report an adolescent who presented with bicytopenia and progressed to an accelerated phase due to CHS. Neutrophils demonstrated impaired NETosis. Pseudoexon activation in the LYST gene was identified as the underlying molecular mechanism.

PMID:
42862058
Bibliographic data and abstract were imported from PubMed on 12 Oct 2026.

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