ArticleMedComm2026
Spectrum of Primary Hemophagocytic Lymphohistiocytosis-Associated Gene Mutations in Chinese Patients.
Article in MedComm, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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6 authors.
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Abstract
Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disease characterized by hyperinflammation. Primary HLH (primary HLH), resulting from genetic mutations, is a subtype of HLH. The mutation spectrum of primary HLH-associated genes has not been well determined in China. This study aimed to explore the mutation spectrum of 12 primary HLH-associated genes in a multicenter database. Medical records and gene sequencing data of 1224 HLH patients were retrieved from January 2014 to September 2024, and gene mutations were analyzed. Genetic variants were observed in 350 (28.59%) patients. Among them, 108 patients had a definitive genetic diagnosis, 227 patients carried single heterozygous variants, and 15 patients carried digenic/polygenic heterozygous variants. A total of 275 different variants were identified, and missense variants were most common. Variants in
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