ArticlePloS one2010
Subtypes of familial hemophagocytic lymphohistiocytosis in Japan based on genetic and functional analyses of cytotoxic T lymphocytes.
Article in PloS one, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed.
- Long-term clinical trajectory of microvillus inclusion disease associated with STXBP2-related familial hemophagocytic lymphohistiocytosis type 5: A case report.JPEN. Journal of parenteral and enteral nutrition · 2026Article
- Spectrum of Primary Hemophagocytic Lymphohistiocytosis-Associated Gene Mutations in Chinese Patients.MedComm · 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
- The performance of sCD25 and CTLs degranulation test for screening patients with primary hemophagocytic lymphohistiocytosis: a large-scale multicenter study in China.Frontiers in immunology · 2025Article
- Detection of a novel gross deletion in the UNC13D gene ends the diagnostic odyssey for a family with familial hemophagocytic lymphohistiocytosis 3.BMC pediatrics · 2024Article
- Functional role of UNC13D in immune diseases and its therapeutic applications.Frontiers in immunology · 2024Review
- Review
- Trapping of CDC42 C-terminal variants in the Golgi drives pyrin inflammasome hyperactivation.The Journal of experimental medicine · 2022Article
- Carrier frequency and incidence estimation of familial hemophagocytic lymphohistiocytosis in East Asian populations by genome aggregation database (gnomAD) based analysis.Frontiers in pediatrics · 2022Article
- Germline Compound Heterozygous Variants Identified in theFrontiers in pediatrics · 2021Article
- RF1 Gene Mutation in Familial Hemophagocytic Lymphohistiocytosis 2: A Family Report and Literature Review.Pharmacogenomics and personalized medicine · 2021Article
- Genotype characteristics and immunological indicator evaluation of 311 hemophagocytic lymphohistiocytosis cases in China.Orphanet journal of rare diseases · 2020Article
- Exome sequencing for simultaneous mutation screening in children with hemophagocytic lymphohistiocytosis.International journal of hematology · 2017Article
- A CD57Journal of clinical immunology · 2017Article
- Novel exonic mutation inducing aberrant splicing in the IL10RA gene and resulting in infantile-onset inflammatory bowel disease: a case report.BMC gastroenterology · 2016Article
- Hemophagocytic Lymphohistiocytosis in Children: Pathogenesis and Treatment.Frontiers in pediatrics · 2016Review
- Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry.The Journal of allergy and clinical immunology · 2016Article
- Familial hemophagocytic lymphohistiocytosis: when rare diseases shed light on immune system functioning.Frontiers in immunology · 2014Review
- Familial hemophagocytic lymphohistiocytosis: a model for understanding the human machinery of cellular cytotoxicity.Cellular and molecular life sciences : CMLS · 2012Review
- How I treat hemophagocytic lymphohistiocytosis.Blood · 2011Review
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Authors and funding
14 authors.
Funding
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Abstract
backgroundFamilial hemophagocytic lymphohistiocytosis (FHL) is a rare disease of infancy or early childhood. To clarify the incidence and subtypes of FHL in Japan, we performed genetic and functional analyses of cytotoxic T lymphocytes (CTLs) in Japanese patients with FHL. DESIGN AND
methodsAmong the Japanese children with hemophagocytic lymphohistiocytosis (HLH) registered at our laboratory, those with more than one of the following findings were eligible for study entry under a diagnosis of FHL: positive for known genetic mutations, a family history of HLH, and impaired CTL-mediated cytotoxicity. Mutations of the newly identified causative gene for FHL5, STXBP2, and the cytotoxicity and degranulation activity of CTLs in FHL patients, were analyzed.
resultsAmong 31 FHL patients who satisfied the above criteria, PRF1 mutation was detected in 17 (FHL2) and UNC13D mutation was in 10 (FHL3). In 2 other patients, 3 novel mutations of STXBP2 gene were confirmed (FHL5). Finally, the remaining 2 were classified as having FHL with unknown genetic mutations. In all FHL patients, CTL-mediated cytotoxicity was low or deficient, and degranulation activity was also low or absent except FHL2 patients. In 2 patients with unknown genetic mutations, the cytotoxicity and degranulation activity of CTLs appeared to be deficient in one patient and moderately impaired in the other.
conclusionsFHL can be diagnosed and classified on the basis of CTL-mediated cytotoxicity, degranulation activity, and genetic analysis. Based on the data obtained from functional analysis of CTLs, other unknown gene(s) responsible for FHL remain to be identified.
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