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Article

Correlation between phenotypic heterogeneity and gene mutational characteristics in familial hemophagocytic lymphohistiocytosis (FHL).

Pediatric blood & cancer - 1 Apr 2006

Ueda Ikuyo, Ishii Eiichi, Morimoto Akira, Ohga Shouichi, Sako Masahiro, Imashuku Shinsaku

Abstract excerpt

BACKGROUND: Classification of familial hemophagocytic lymphohistiocytosis (FHL) into FHL2, FHL3, and other subtypes based on genetic abnormalities has recently become possible. We studied the phenotypic differences among these subtypes in Japan. METHODS: Forty patients clinically diagnosed with FHL were analyzed. Perforin abnormality was screened by flow cytometric analysis and/or DNA sequencing in these...

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Share to Flow Cytometry
Share to Genetic Heterogeneity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Killer Cells, Natural

Share to Lymphohistiocytosis, Hemophagocytic

Share to Membrane Glycoproteins

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Source

Identifiers

PMID: 16365863
DOI: 10.1002/pbc.20511

Genes

FHL2
FHL3
FHL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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