Answers are grounded in this paper and cite their sources.
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.
No takes yet. Share an insight, caveat, or question.
Eldem et al. (2026) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: