ArticleAmerican journal of human genetics1999
Linkage of familial hemophagocytic lymphohistiocytosis to 10q21-22 and evidence for heterogeneity.
Article in American journal of human genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 143 citations in OpenAlex.
- Simultaneous onset of familial hemophagocytic lymphohistiocytosis and T-cell large granular lymphocytic leukemia in an adult.Annals of hematology · 2026Article
- Neurologic Manifestations as Initial Clinical Presentation of Familial Hemophagocytic Lymphohistiocytosis Type2 Due toFrontiers in genetics · 2020Article
- Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis in a small child: A case report.Medicine · 2020Article
- Current Updates on Classification, Diagnosis and Treatment of Hemophagocytic Lymphohistiocytosis (HLH).Indian journal of pediatrics · 2016Review
- Article
- Genetic dissection of NK cell responses.Frontiers in immunology · 2012Article
- Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3.Journal of medical genetics · 2011Article
- Subtypes of familial hemophagocytic lymphohistiocytosis in Japan based on genetic and functional analyses of cytotoxic T lymphocytes.PloS one · 2010Article
- STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5.Journal of medical genetics · 2010Article
- Molecular basis of familial hemophagocytic lymphohistiocytosis.Haematologica · 2010Article
- UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis.Haematologica · 2010Article
- Novel syntaxin 11 gene (STX11) mutation in three Argentinean patients with hemophagocytic lymphohistiocytosis.Journal of clinical immunology · 2010Article
- Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11.American journal of human genetics · 2009Article
- Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis.Journal of medical genetics · 2006Article
- Pediatric hemophagocytic syndromes: a diagnostic and therapeutic challenge.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2005Article
- Visceral leishmaniasis and haemophagocytic syndrome in an Omani child.Journal for scientific research. Medical sciences · 2002Article
- Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis.American journal of human genetics · 2001Article
- Hemophagocytic syndromes and infection.Emerging infectious diseasesReview
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Authors and funding
11 authors at 7 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal recessive disorder characterized by the early onset of overwhelming activation of T lymphocytes and macrophages, invariably leading to death, in the absence of allogeneic bone marrow transplantation. Using genomewide genetic linkage analysis, we analyzed a group of 17 families with FHL and mapped a locus for FHL to the proximal region of the long arm of chromosome 10. Ten families showed no recombination with three tightly linked markers, D10S1650 (LOD score [Z]=6.99), D10S556 (Z=5.40), and D10S206 (Z=3.24), with a maximum multipoint LOD score of 11.22 at the D10S1650 locus. Haplotype analysis of these 10 families allowed us to establish D10S206 and D10S1665 as the telomeric and the centromeric flanking markers, respectively. Heterogeneity analysis and haplotype inspection of the remaining families confirmed that in seven families FHL was not linked to the 10q21-22 region, thus providing evidence for genetic heterogeneity of this condition.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.