ArticleBlood research2021
Genetic and clinical characteristics of pediatric patients with familial hemophagocytic lymphohistiocytosis.
Article in Blood research, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 22 citations in OpenAlex.
- Evaluating whole genome sequencing for rare diseases in newborn screening: evidence synthesis from a series of systematic reviews.Health technology assessment (Winchester, England) · 2025Pooled it
- Characteristics of gene mutations in Vietnamese pediatric patients with Inborn Errors of Immunity: a cross-sectional study.Orphanet journal of rare diseases · 2026Article
- Clinical Characteristics and Outcomes of Pediatric Hemophagocytic Lymphohistocytosis: A Retrospective Study from a Tertiary Center in Jordan.International journal of hematology-oncology and stem cell research · 2026Article
- Consensus recommendations for the diagnosis and management of hemophagocytic lymphohistiocytosis in the Gulf Cooperation Council: a modified Delphi approach.Frontiers in immunology · 2026Article
- Article
- Ocular inflammation as the first presenting feature of PRF1-associated familial hemophagocytic lymphohistiocytosis, case report and review of literature.BMC ophthalmology · 2025Review
- T and NK cell functionality in a patient harboring heterozygous novel BCL11B p.Asp632fsAla∗91 and STX11 p.R129P mutations.Heliyon · 2025Article
- Spectrum ofJournal of medical genetics · 2024Review
- Article
- Genetic background of primary and familial HLH in Qatar: registry data and population study.Frontiers in pediatrics · 2024Article
- Successful use of emapalumab in refractory hemophagocytic lymphohistiocytosis in a child with Chédiak-Higashi syndrome: a case report.Journal of medical case reports · 2023Article
- Presentations and outcomes of familial hemophagocytic lymphohistiocytosis in the pediatric intensive care units (PICUs).Frontiers in pediatrics · 2023Article
- RF1 Gene Mutation in Familial Hemophagocytic Lymphohistiocytosis 2: A Family Report and Literature Review.Pharmacogenomics and personalized medicine · 2021Article
Corrections and comments
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Authors and funding
13 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundOur study was designed to investigate the frequencies and distributions of familial hemophagocytic lymphohistiocytosis (FHL) associated genes in Saudi patients.
methodsFHL associated gene screening was performed on 87 Saudi patients who were diagnosed with hemophagocytic lymphohistiocytosis (HLH) between 1995 and 2014. The clinical and biochemical profiles were also retrospectively captured and analyzed.
resultsHomozygous mutations and mono-allelic variants were identified in 66 (75.9%) and 3 (3.5%) of the study participants, respectively.
conclusionOur study revealed the predominance of the
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