ArticleAmerican journal of human genetics1999
Localization of a gene for familial hemophagocytic lymphohistiocytosis at chromosome 9q21.3-22 by homozygosity mapping.
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 45 papers.
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Who cites it
45 citing papers in PubMed, 216 citations in OpenAlex.
- Spectrum of Primary Hemophagocytic Lymphohistiocytosis-Associated Gene Mutations in Chinese Patients.MedComm · 2026Article
- Epstein-Barr Virus-Induced Hemophagocytic Lymphohistiocytosis: A Case Report of a Rare and Life-Threatening Syndrome.Cureus · 2024Article
- Article
- Hemophagocytic Lymphohistiocytosis (HLH) Flare Following the COVID-19 Vaccine: A Case Report.Cureus · 2024Article
- Laboratory Features and Pathology of Cytokine Storm Syndromes.Advances in experimental medicine and biology · 2024Review
- History of Hemophagocytic Lymphohistiocytosis.Advances in experimental medicine and biology · 2024Review
- Approaching hemophagocytic lymphohistiocytosis.Frontiers in immunology · 2023Review
- Case report and literature review: Hemophagocytic lymphohistiocytosis in a pregnant woman with systemic lupus erythematosus withFrontiers in oncology · 2022Article
- Traffic jam within lymphocytes: A clinician's perspective.Frontiers in immunology · 2022Review
- Molecular Genetics Diversity of Primary Hemophagocytic Lymphohistiocytosis among Polish Pediatric Patients.Archivum immunologiae et therapiae experimentalis · 2021Article
- The Spectrum of Clinical, Immunological, and Molecular Findings in Familial Hemophagocytic Lymphohistiocytosis: Experience From India.Frontiers in immunology · 2021Article
- FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis.Frontiers in immunology · 2020Article
- Application of Flow Cytometry in Primary Immunodeficiencies: Experience From India.Frontiers in immunology · 2019Review
- Non-neoplastic histiocytic and dendritic cell disorders in lymph nodes.Seminars in diagnostic pathology · 2018Review
- Exome sequencing for simultaneous mutation screening in children with hemophagocytic lymphohistiocytosis.International journal of hematology · 2017Article
- Disrupted apical exocytosis of cargo vesicles causes enteropathy in FHL5 patients with Munc18-2 mutations.JCI insight · 2017Article
- Comparison of Th1/Th2 cytokine profiles between primary and secondary haemophagocytic lymphohistiocytosis.Italian journal of pediatrics · 2016Article
- Current Updates on Classification, Diagnosis and Treatment of Hemophagocytic Lymphohistiocytosis (HLH).Indian journal of pediatrics · 2016Review
- Hemophagocytic Lymphohistiocytosis in Children: Pathogenesis and Treatment.Frontiers in pediatrics · 2016Review
- Hemophagocytic Syndrome and Critical Illness: New Insights into Diagnosis and Management.Journal of intensive care medicine · 2015Review
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial hemophagocytic lymphohistiocytosis (FHL), also known as familial erythrophagocytic lymphohistiocytosis and familial histiocytic reticulosis, is a rare autosomal recessive disorder of early childhood characterized by excessive immune activation. Linkage of the disease gene to an approximately 7.8-cM region between markers D9S1867 and D9S1790 at 9q21.3-22 was identified by homozygosity mapping in four inbred FHL families of Pakistani descent with a combined maximum multipoint LOD score of 6.05. This is the first genetic locus to be described in FHL. However, homozygosity by descent across this interval could not be demonstrated in an additional affected kindred of Arab origin, whose maximum multipoint LOD score was -0.12. The combined sample revealed significant evidence for linkage to 9q markers (LOD score with heterogeneity, 5.00). Identification of the gene(s) involved in the pathogenesis of FHL will contribute to an understanding of the control of T-lymphocyte and macrophage activation, which is central to homeostasis in the immune system.
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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.