Trial reportBlood2018
Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis.
Abstract readClinical Trial
In one paragraph
Trial report in Blood, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 112 papers, 7 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
112citing papers in PubMed, 7 pooled it
–field-weighted citation impact
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
112 citing papers in PubMed, 7 syntheses or guidelines pooled it.
- Comprehensive insights into tuberculosis-associated hemophagocytic lymphohistiocytosis: a systematic review.BMC infectious diseases · 2024Pooled it
- HLH as an additional warning sign of inborn errors of immunity beyond familial-HLH in children: a systematic review.Frontiers in immunology · 2024Pooled it
- The 2022 EULAR/ACR Points to Consider at the Early Stages of Diagnosis and Management of Suspected Haemophagocytic Lymphohistiocytosis/Macrophage Activation Syndrome (HLH/MAS).Arthritis & rheumatology (Hoboken, N.J.) · 2023Pooled it
- The 2022 EULAR/ACR points to consider at the early stages of diagnosis and management of suspected haemophagocytic lymphohistiocytosis/macrophage activation syndrome (HLH/MAS).Annals of the rheumatic diseases · 2023Pooled it
- GermlineHaematologica · 2023Pooled it
- Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis.Journal of clinical immunology · 2020Pooled it
- Challenges in the diagnosis of hemophagocytic lymphohistiocytosis: Recommendations from the North American Consortium for Histiocytosis (NACHO).Pediatric blood & cancer · 2019Guideline
- Mycobacterial Immune Reconstitution Inflammatory Syndrome in HIV is Associated With Protein-Altering Variants in Hemophagocytic Lymphohistiocytosis-Related Genes.The Journal of infectious diseases · 2023Trial
- Precision immunomodulation for pediatric hemophagocytic lymphohistiocytosis in intensive care.Pediatric investigation · 2026Review
- Australasian Society of Clinical Immunology and Allergy consensus statement on IEI molecular diagnosis.Journal of human immunity · 2026Review
- Spectrum of Primary Hemophagocytic Lymphohistiocytosis-Associated Gene Mutations in Chinese Patients.MedComm · 2026Article
- Critical care outcomes of hemophagocytic lymphohistiocytosis in children: a single centre retrospective observational study.Pediatric rheumatology online journal · 2026Observational
- Early management of hemophagocytic lymphohistiocytosis/macrophage activation syndrome: a systematic literature review.EULAR rheumatology open · 2026Review
- Primary Hemophagocytic Lymphohistiocytosis: A Severe Immune Dysregulatory Disease with Various Genotypic Features and Outcomes: A Cross-Sectional Study from a Tertiary Pediatric CenterTurkish journal of haematology : official journal of Turkish Society of Haematology · 2026Article
- Clinical and neuroimaging features of familial hemophagocytic lymphohistiocytosis.Pediatric radiology · 2026Article
- Secondary hemophagocytic lymphohistiocytosis in pediatric patients: a single-center experience.Frontiers in pediatrics · 2026Article
- Malignancy-Associated Hemophagocytic Lymphohistiocytosis: An Experience of 15 Years in Polish Pediatric Hematology Centers.Journal of blood medicine · 2026Article
- Successful management of scrub typhus-associated hemophagocytic lymphohistiocytosis with doxycycline and immunomodulation: a case report.Frontiers in pediatrics · 2026Article
- Central nervous system involvement in pediatric hemophagocytic lymphohistiocytosis: A single-center descriptive study of clinical features, neurodiagnostic findings, and outcomes.Clinical hematology international · 2026Article
- An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families.Genome medicine · 2025Article
52 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
33 authors.
Ivan K ChinnDepartment of Pediatrics, Baylor College of Medicine, Houston, TX.
Olive S EcksteinDepartment of Pediatrics, Baylor College of Medicine, Houston, TX.
Erin C Peckham-GregoryDepartment of Pediatrics, Baylor College of Medicine, Houston, TX.
Baruch R GoldbergDepartment of Pediatrics, Baylor College of Medicine, Houston, TX.
Lisa R ForbesDepartment of Pediatrics, Baylor College of Medicine, Houston, TX.
Sarah K NicholasDepartment of Pediatrics, Baylor College of Medicine, Houston, TX.
Emily M MaceDepartment of Pediatrics, Baylor College of Medicine, Houston, TX.
Tiphanie P VogelDepartment of Pediatrics, Baylor College of Medicine, Houston, TX.
Harshal A AbhyankarDepartment of Pediatrics, Texas Children's Hospital, Houston, TX.
Maria I DiazDepartment of Pediatrics, Texas Children's Hospital, Houston, TX.
Helen E HeslopDepartment of Pediatrics, Baylor College of Medicine, Houston, TX.
Robert A KranceDepartment of Pediatrics, Baylor College of Medicine, Houston, TX.
Caridad A MartinezDepartment of Pediatrics, Baylor College of Medicine, Houston, TX.
Trung C NguyenDepartment of Pediatrics, Baylor College of Medicine, Houston, TX.
Dalia A BashirDepartment of Pediatrics, Baylor College of Medicine, Houston, TX.
Jordana R GoldmanDepartment of Pediatrics, Baylor College of Medicine, Houston, TX.
Asbjørg Stray-PedersenNorwegian National Unit for Newborn Screening, Department of Pediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
Luis A PedrozaUniversidad San Francisco de Quito, Colegio de Ciencias de la Salud-Hospital de los Valles, Quito, Ecuador.
M Cecilia PoliDepartment of Pediatrics, Baylor College of Medicine, Houston, TX.
Juan C Aldave-BecerraDivision of Allergy and Immunology, Hospital Nacional Edgardo Rebagliati Martins, Lima, Peru.
Sean A McGheeDivision of Immunology and Allergy, Department of Pediatrics, Stanford University School of Medicine, Palo Alto, CA.
Waleed Al-HerzDepartment of Pediatrics, Kuwait University, Kuwait City, Kuwait.
Aghiad ChamdinDepartment of Pediatrics and Human Development, Michigan State University, Lansing, MI; and.
Zeynep H Coban-AkdemirBaylor-Hopkins Center for Mendelian Genomics, Houston, TX.
Shalini N JhangianiDepartment of Molecular and Human Genetics and.
Donna M MuznyDepartment of Molecular and Human Genetics and.
Tram N CaoDepartment of Pediatrics, Baylor College of Medicine, Houston, TX.
Diana N HongDepartment of Pediatrics, Baylor College of Medicine, Houston, TX.
Richard A GibbsBaylor-Hopkins Center for Mendelian Genomics, Houston, TX.
James R LupskiDepartment of Pediatrics, Baylor College of Medicine, Houston, TX.
Jordan S OrangeDepartment of Pediatrics, Baylor College of Medicine, Houston, TX.
Kenneth L McClainDepartment of Pediatrics, Baylor College of Medicine, Houston, TX.
Carl E AllenDepartment of Pediatrics, Baylor College of Medicine, Houston, TX.
Funding
Tissue ResourceP50CA126752 · NCI · BAYLOR COLLEGE OF MEDICINE · PI Leonid S Metelitsa · 2007 to 2026
$51.4MPEDIATRIC ONCOLOGY CLINICAL RESEARCH TRAINING PROGRAMK12CA090433 · NCI · BAYLOR COLLEGE OF MEDICINE · PI CARL E ALLEN, Donald W. Parsons · 2002 to 2026
$18.5MBaylor-Johns Hopkins Center for Mendelian GeneticsUM1HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2016 to 2020
$14.5MGENETIC, IMMUNOLOGIC AND MECHANISTIC BASIS OF HUMAN NK CELL DEFICIENCYR01AI120989 · NIAID · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI ORANGE, JORDAN SCOTT · 2016 to 2025
$7.7MNonrecurrent rearrangements, genome architecture and neurodegenerative disease.R01NS058529 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI LUPSKI, JAMES R. · 2009 to 2017
$5.0MDirecting Function at the Natural Killer Cell Secretory Immunological SynapseR01AI067946 · NIAID · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI ORANGE, JORDAN SCOTT · 2007 to 2019
$4.8MTraining Program in Pediatric Cancer Epidemiology and ControlR25CA160078 · NCI · BAYLOR COLLEGE OF MEDICINE · PI BONDY, MELISSA L., CHANG, SHINE · 2011 to 2015
$1.9MDirecting Function at the Natural Killer Cell Secretory Immunological SynapseR37AI067946 · NIAID · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Jordan Scott Orange · 2024 to 2026
$1.5MNCI NIH HHS K12 CA090433NCI NIH HHS P50 CA126752NCI NIH HHS R25 CA160078NHGRI NIH HHS UM1 HG006542NIAID NIH HHS R01 AI067946NIAID NIH HHS R01 AI120989NIAID NIH HHS R37 AI067946NINDS NIH HHS R01 NS058529
Abstract
The HLH-2004 criteria are used to diagnose hemophagocytic lymphohistiocytosis (HLH), yet concern exists for their misapplication, resulting in suboptimal treatment of some patients. We sought to define the genomic spectrum and associated outcomes of a diverse cohort of children who met the HLH-2004 criteria. Genetic testing was performed clinically or through research-based whole-exome sequencing. Clinical metrics were analyzed with respect to genomic results. Of 122 subjects enrolled over the course of 17 years, 101 subjects received genetic testing. Biallelic familial HLH (fHLH) gene defects were identified in only 19 (19%) and correlated with presentation at younger than 1 year of age (
Indexed as
Genetic TestingGenome, HumanHigh-Throughput Nucleotide SequencingAdolescentChildChild, PreschoolCohort StudiesFemaleGenome-Wide Association StudyHumansInfantInfant, NewbornLymphohistiocytosis, HemophagocyticMaleMultifactorial Inheritance
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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.