ArticleJournal of clinical immunology2017
Effective Immunological Guidance of Genetic Analyses Including Exome Sequencing in Patients Evaluated for Hemophagocytic Lymphohistiocytosis.
Article in Journal of clinical immunology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 47 citations in OpenAlex.
- Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis.Journal of clinical immunology · 2020Pooled it
- Trial
- Digenic and multigenic heterozygous FHL genotypes are common but clinically silent in the general population.Blood advances · 2026Article
- Hemophagocytic lymphohistiocytosis triggered by Hashimoto thyroiditis during pregnancy: a rare case report and diagnostic challenge.Annals of medicine and surgery (2012) · 2025Article
- Beyond genotype: challenges in predicting disease risk for carriers of biallelic perforin variants.Blood · 2025Article
- Promising Targeted Therapies for Hemophagocytic Lymphohistiocytosis: A Translational Perspective Based on Immunopathology.Clinical reviews in allergy & immunology · 2025Review
- Efficacy of T-cell assays for the diagnosis of primary defects in cytotoxic lymphocyte exocytosis.Blood · 2024Article
- Diagnostic Challenges in Hemophagocytic Lymphohistiocytosis, a Rare, Potentially Fatal Disease: Two Case Studies.Journal of clinical medicine · 2024Review
- Case report: EBV-related eye orbits and sinuses lymphohistiocytic infiltration responsive to rituximab in a patient with X lymphoproliferative syndrome type 1.Frontiers in immunology · 2024Article
- Inflamed-HLH, MAS, or something else?Hematology. American Society of Hematology. Education Program · 2023Article
- Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (Frontiers in immunology · 2023Article
- Misdiagnosis of adult primary hemophagocytic lymphohistiocytosis as NK/T-cell lymphoma: A case report.EJHaem · 2022Article
- Hemophagocytic LymphohistiocytosisBalkan medical journal · 2022Article
- Traffic jam within lymphocytes: A clinician's perspective.Frontiers in immunology · 2022Review
- Hermansky-Pudlak syndrome type 2: A rare cause of severe periodontitis in adolescents-A case study.Frontiers in pediatrics · 2022Article
- Histiocytic disorders.Nature reviews. Disease primers · 2021Review
- The Spectrum of Clinical, Immunological, and Molecular Findings in Familial Hemophagocytic Lymphohistiocytosis: Experience From India.Frontiers in immunology · 2021Article
- Dilemmas in diagnosis and management of hemophagocytic lymphohistiocytosis in children.World journal of pediatrics : WJP · 2020Review
- Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders.Blood advances · 2020Article
- Lentiviral Gene Therapy for Familial Hemophagocytic Lymphohistiocytosis Type 3, Caused byHuman gene therapy · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report our experience in using flow cytometry-based immunological screening prospectively as a decision tool for the use of genetic studies in the diagnostic approach to patients with hemophagocytic lymphohistiocytosis (HLH). We restricted genetic analysis largely to patients with abnormal immunological screening, but included whole exome sequencing (WES) for those with normal findings upon Sanger sequencing. Among 290 children with suspected HLH analyzed between 2010 and 2014 (including 17 affected, but asymptomatic siblings), 87/162 patients with "full" HLH and 79/111 patients with "incomplete/atypical" HLH had normal immunological screening results. In 10 patients, degranulation could not be tested. Among the 166 patients with normal screening, genetic analysis was not performed in 107 (all with uneventful follow-up), while 154 single gene tests by Sanger sequencing in the remaining 59 patients only identified a single atypical CHS patient. Flow cytometry correctly predicted all 29 patients with FHL-2, XLP1 or 2. Among 85 patients with defective NK degranulation (including 13 asymptomatic siblings), 70 were Sanger sequenced resulting in a genetic diagnosis in 55 (79%). Eight patients underwent WES, revealing mutations in two known and one unknown cytotoxicity genes and one metabolic disease. FHL3 was the most frequent genetic diagnosis. Immunological screening provided an excellent decision tool for the need and depth of genetic analysis of HLH patients and provided functionally relevant information for rapid patient classification, contributing to a significant reduction in the time from diagnosis to transplantation in recent years.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.