ArticleAmerican journal of human genetics2001
Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis.
Article in American journal of human genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 72 papers, 1 of them a synthesis that pooled it.
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Who cites it
72 citing papers in PubMed, 1 synthesis or guideline pooled it, 250 citations in OpenAlex.
- Immunopathology of and potential therapeutics for secondary hemophagocytic lymphohistiocytosis/macrophage activation syndrome: a translational perspective.Experimental & molecular medicine · 2024Pooled it
- Single-cell genomics links targeted functional manipulations to efficacy-associated chromatin signatures in CAR T cells.Research square · 2026Article
- Case Report: Primary hemophagocytic lymphohistiocytosis with a homozygous PRF1 variant: a case suggesting early immunoporosis and an expanded phenotypic spectrum.Frontiers in immunology · 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
- Cytotoxic lymphocyte effector function is unaffected in patients with Gaucher disease.Frontiers in immunology · 2025Article
- A Rare Presentation ofCase reports in medicine · 2025Article
- Epstein-Barr Virus-Induced Hemophagocytic Lymphohistiocytosis: A Case Report of a Rare and Life-Threatening Syndrome.Cureus · 2024Article
- Expansion and Precise CRISPR-Cas9 Gene Repair of Autologous T-Memory Stem Cells from Patients with T-Cell Immunodeficiencies.Bio-protocol · 2024Article
- Patients and mice with deficiency in the SNARE protein SYNTAXIN-11 have a secondary B cell defect.The Journal of experimental medicine · 2024Article
- Somatic mutations in FAS pathway increase hemophagocytic lymphohistiocytosis risk in patients with T- and/or NK-cell lymphoma.Blood advances · 2024Article
- Article
- Hemophagocytic Lymphohistiocytosis (HLH) Flare Following the COVID-19 Vaccine: A Case Report.Cureus · 2024Article
- Late Onset of Primary Hemophagocytic Lymphohistiocytosis (HLH) with a Novel Constellation of Compound Heterozygosity Involving Two Missense Variants in theInternational journal of molecular sciences · 2024Review
- Genetic background of primary and familial HLH in Qatar: registry data and population study.Frontiers in pediatrics · 2024Article
- Inflamed-HLH, MAS, or something else?Hematology. American Society of Hematology. Education Program · 2023Article
- Pulmonary Aspergillosis Complicated by Hemophagocytic Lymphohistiocytosis: A Case Report and Literature Review.Cureus · 2022Article
- Hemophagocytic LymphohistiocytosisBalkan medical journal · 2022Article
- TNFAIP3 mutation causing haploinsufficiency of A20 with a hemophagocytic lymphohistiocytosis phenotype: a report of two cases.Pediatric rheumatology online journal · 2022Article
- Secondary hemophagocytic lymphohistiocytosis due to nivolumab/ipilimumab in a renal cell cancer patient-A case report.Clinical case reports · 2021Article
- Molecular Genetics Diversity of Primary Hemophagocytic Lymphohistiocytosis among Polish Pediatric Patients.Archivum immunologiae et therapiae experimentalis · 2021Article
12 more citing papers are in PubMed but not listed here.
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Authors and funding
18 authors at 11 institutions in 10 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal recessive disease of early childhood characterized by nonmalignant accumulation and multivisceral infiltration of activated T lymphocytes and histiocytes (macrophages). Cytotoxic T and natural killer (NK) cell activity is markedly reduced or absent in these patients, and mutations in a lytic granule constituent, perforin, were recently identified in a number of FHL individuals. Here, we report a comprehensive survey of 34 additional patients with FHL for mutations in the coding region of the perforin gene and the relative frequency of perforin mutations in FHL. Perforin mutations were identified in 7 of the 34 families investigated. Six children were homozygous for the mutations, and one patient was a compound heterozygote. Four novel mutations were detected: one nonsense, two missense, and one deletion of one amino acid. In four families, a previously reported mutation at codon 374, causing a premature stop codon, was identified, and, therefore, this is the most common perforin mutation identified so far in FHL patients. We found perforin mutations in 20% of all FHL patients investigated (7/34), with a somewhat higher prevalence, approximately 30% (6/20), in children whose parents originated from Turkey. No other correlation between the type of mutation and the phenotype of the patients was evident from the present study. Our combined results from mutational analysis of 34 families and linkage analysis of a subset of consanguineous families indicate that perforin mutations account for 20%-40% of the FHL cases and the FHL 1 locus on chromosome 9 for approximately 10%, whereas the major part of the FHL cases are caused by mutations in not-yet-identified genes.
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