ArticleBlood2013
Gene-expression signatures differ between different clinical forms of familial hemophagocytic lymphohistiocytosis.
Article in Blood, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed.
- Simultaneous onset of familial hemophagocytic lymphohistiocytosis and T-cell large granular lymphocytic leukemia in an adult.Annals of hematology · 2026Article
- Clinicopathological and Immunogenetic Characterization in 8 Patients with Familial Hemophagocytic Lymphohistiocytosis Type 2: A Study from North India with Literature Review.Journal of clinical immunology · 2025Review
- IFN-γ signature in the plasma proteome distinguishes pediatric hemophagocytic lymphohistiocytosis from sepsis and SIRS.Blood advances · 2021Article
- Current status of the diagnosis and treatment of hemophagocytic lymphohistiocytosis in adults.Blood research · 2021Review
- Do COVID-19 Infections Result in a Different Form of Secondary Hemophagocytic Lymphohistiocytosis.International journal of molecular sciences · 2021Review
- Unusual Prominent Pulmonary Involvement in a Homozygous PRF1 Gene Variant in a Female Patient.Journal of clinical immunology · 2021Article
- RF1 Gene Mutation in Familial Hemophagocytic Lymphohistiocytosis 2: A Family Report and Literature Review.Pharmacogenomics and personalized medicine · 2021Article
- Current Flow Cytometric Assays for the Screening and Diagnosis of Primary HLH.Frontiers in immunology · 2019Review
- Adult-Onset Still's Disease and Macrophage-Activating Syndrome Progressing to Lymphoma: A Clinical Pathology Conference Held by the Division of Rheumatology at Hospital for Special Surgery.HSS journal : the musculoskeletal journal of Hospital for Special Surgery · 2018Article
- Article
- Hyperinflammation, rather than hemophagocytosis, is the common link between macrophage activation syndrome and hemophagocytic lymphohistiocytosis.Current opinion in rheumatology · 2014Review
- Familial hemophagocytic lymphohistiocytosis: when rare diseases shed light on immune system functioning.Frontiers in immunology · 2014Review
- Chimeric antigen receptor therapy for cancer.Annual review of medicine · 2014Review
Corrections and comments
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Authors and funding
7 authors.
Funding
Abstract
We performed gene-expression profiling of PBMCs obtained from patients with familial hemophagocytic lymphohistiocytosis (FHL) to screen for biologic correlates with the genetic and/or clinical forms of this disease. Unsupervised hierarchical clustering of 167 differentially expressed probe sets, representing 143 genes, identified 3 groups of patients corresponding to the genetic forms and clinical presentations of the disease. Two clusters of up- and down-regulated genes separated patients with perforin-deficient FHL from those with unidentified genetic cause(s) of the disease. The clusterscomprised genes involved in defense/immune responses, apoptosis, zinc homeostasis, and systemic inflammation. Unsupervised hierarchical clustering partitioned patients with unknown genetic cause(s) of FHL into 2 well-distinguished subgroups. Patterns of up- and down-regulated genes separated patients with “late-onset” and “relapsing” forms of FHL from patients with an “early onset and rapidly evolving” form of the disease. A cluster was identified in patients with “late onset and relapsing” form of FHL related to B- and T-cell differentiation/survival, T-cell activation, and vesicular transport. The resulting data suggest that unique gene-expression signatures can distinguish between genetic and clinical subtypes of FHL. These differentially expressed genes may represent biomarkers that can be used as predictors of disease progression.
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