ArticleBlood2017
Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic
Registry-linked trialOpen access · bronzeAbstract read
In one paragraph
Article in Blood, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02735824 (Genetic Study of Immunodeficiency), which is not on this map. Cited by 50 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
50citing papers in PubMed, 2 pooled it
5.4field-weighted citation impact, top 3% of its field
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.
Genetic Study of Immunodeficiency: Search for New Genetic Causes for Primary Immunodeficiencies
Who cites it
50 citing papers in PubMed, 2 syntheses or guidelines pooled it, 109 citations in OpenAlex.
- Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Pooled it
- A Systematic Review of Monogenic Inflammatory Bowel Disease.Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association · 2022Pooled it
- Monogenic disorders of the TNF signalling pathway.Nature reviews. Rheumatology · 2026Review
- Mendelian susceptibility to mycobacterial disease: IFN-γ-driven immunity collapse underlies heterogeneous infections.Frontiers in immunology · 2026Review
- Video capsule endoscopy in very early onset inflammatory bowel disease: a multicenter retrospective study from the Chinese Pediatric VCE Study Group.Translational gastroenterology and hepatology · 2026Article
- Pediatric ectodermal dysplasia with immunodeficiency caused by a hemizygousFrontiers in immunology · 2026Review
- Monogenic inflammatory bowel disease: An unfolding enigma.World journal of clinical pediatrics · 2025Review
- Clinical relevance of loss-of-function mutations ofGenes & diseases · 2025Article
- Outcomes of Hematopoietic Stem Cell Transplantation in 5 Patients with Autosomal Recessive RIPK1-Deficiency.Journal of clinical immunology · 2025Article
- Inborn Errors of Immunity Presenting with Early-Onset Severe Atopy.Medicina (Kaunas, Lithuania) · 2025Review
- Non-Skewed X-inactivation Results in NF-κB Essential Modulator (NEMO) Δ-exon 5-autoinflammatory Syndrome (NEMO-NDAS) in a Female with Incontinentia Pigmenti.Journal of clinical immunology · 2024Article
- A unified metric of human immune health.Nature medicine · 2024Article
- Breaking Down Barriers: Epithelial Contributors to Monogenic IBD Pathogenesis.Inflammatory bowel diseases · 2024Review
- OTULIN-related conditions: Report of a new case and review of the literature using GenIA.Research square · 2024Article
- Understanding very early onset inflammatory bowel disease (VEOIBD) in relation to inborn errors of immunity.Immunological reviews · 2024Review
- Monogenic inflammatory bowel disease-genetic variants, functional mechanisms and personalised medicine in clinical practice.Human genetics · 2023Review
- Pharmacologic Management of Monogenic and Very Early Onset Inflammatory Bowel Diseases.Pharmaceutics · 2023Review
- Unlocking life-threatening COVID-19 through two types of inborn errors of type I IFNs.The Journal of clinical investigation · 2023Review
- Immune-mediated inflammatory diseases of the gastrointestinal tract: Beyond Crohn's disease and ulcerative colitis.JGH open : an open access journal of gastroenterology and hepatology · 2022Review
- Skin manifestations of inborn errors of NF-κB.Frontiers in pediatrics · 2022Review
Corrections and comments
- Commented on by
Authors and funding
46 authors at 20 institutions in 9 countries.
Charline MiotStudy Center for Immunodeficiencies, Assistance Publique-Hopitaux de Paris, Necker Hospital for Sick Children, Paris, France.
Kohsuke ImaiDepartment of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.
Chihaya ImaiDepartment of Pediatrics, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
Anthony J ManciniDivision of Pediatric Dermatology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.
Zeynep Yesim KucukBone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Tokomki KawaiDepartment of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Ryuta NishikomoriDepartment of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Etsuro ItoDepartment of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
Isabelle PellierPediatric Onco-Hemato-Immunology Unit, University Hospital, Angers, France.
Sophie Dupuis GirodHospices Civils de Lyon, Genetic Unit, School of Medicine, University Lyon 1, Bron, France.
Jeremie RosainStudy Center for Immunodeficiencies, Assistance Publique-Hopitaux de Paris, Necker Hospital for Sick Children, Paris, France.
Shinya SasakiDepartment of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
Shanmuganathan ChandrakasanBone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Jana Pachlopnik SchmidDivision of Immunology and.
Tsubasa OkanoDepartment of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.
Estelle ColinDepartment of Biochemistry and Genetics, University Hospital, Angers, France.
Alberto Olaya-VargasClinical Immunology Department and Program of Hematopoietic Stem Cell Transplantation, National Institute of Pediatrics, Mexico City, Mexico.
Marco Yamazaki-NakashimadaClinical Immunology Department and Program of Hematopoietic Stem Cell Transplantation, National Institute of Pediatrics, Mexico City, Mexico.
Waseem QasimUniversity College London Great Ormond Street Institute of Child Health, London, United Kingdom.
Sara Espinosa PadillaClinical Immunology Department and Program of Hematopoietic Stem Cell Transplantation, National Institute of Pediatrics, Mexico City, Mexico.
Andrea JonesImmunodeficiency Diagnosis and Treatment Program, Department of Pediatrics, National Jewish Health, Denver, CO.
Alfons KrolDepartment of Pediatric Dermatology, Oregon Health & Science University, Portland, OR.
Nyree ColePaediatric Haematology, Starship Blood and Cancer Centre, Starship Hospital, Auckland, New Zealand.
Stephen JollesImmunodeficiency Centre for Wales, University Hospital of Wales, Cardiff, United Kingdom.
Jack BleesingBone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Thomas VraetzCenter for Chronic Immunodeficiency, University of Freiburg, Freiburg, Germany.
Andrew R GenneryPrimary Immunodeficiency Group, Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.
Mario AbinunPrimary Immunodeficiency Group, Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.
Tayfun GüngörDivision of Immunology and.
Beatriz Costa-CarvalhoDepartment of Pediatrics and.
Antonio Condino-NetoDepartment of Immunology, Institute of Biomedical Sciences, Federal University of São Paulo, São Paulo, Brazil.
Paul VeysBlood and Marrow Transplant Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
Steven M HollandLaboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Gulbu UzelLaboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Despina MoshousImagine Institute, Paris Descartes University, Paris, France.
Benedicte NevenImagine Institute, Paris Descartes University, Paris, France.
Stéphane BlancheImagine Institute, Paris Descartes University, Paris, France.
Stephan EhlCenter for Chronic Immunodeficiency, University of Freiburg, Freiburg, Germany.
Rainer DöffingerNational Institute for Health Research, Cambridge Biomedical Research Centre, Cambridge, United Kingdom.
Smita Y PatelOxford University Hospitals NHS Foundation Trust, National Institute for Health Research Oxford Biomedical Research Centre, Oxford, United Kingdom.
Anne PuelImagine Institute, Paris Descartes University, Paris, France.
Jacinta BustamanteStudy Center for Immunodeficiencies, Assistance Publique-Hopitaux de Paris, Necker Hospital for Sick Children, Paris, France.
Erwin W GelfandImmunodeficiency Diagnosis and Treatment Program, Department of Pediatrics, National Jewish Health, Denver, CO.
Jean-Laurent CasanovaImagine Institute, Paris Descartes University, Paris, France.
Jordan S OrangeCenter for Human Immunobiology, Section of Immunology, Allergy and Rheumatology, Texas Children's Hospital, Baylor College of Medicine, Houston, TX.
Capucine PicardStudy Center for Immunodeficiencies, Assistance Publique-Hopitaux de Paris, Necker Hospital for Sick Children, Paris, France.
Assistance Publique – Hôpitaux de Paris · FRCincinnati Children's Hospital Medical Center · USNational Institute of Genomic Medicine · MXHirosaki University · JPKyoto University · JPNational Institute for Health Research · GBNational Jewish Health · USTokyo Medical and Dental University · JPUniversité Paris Cité · FRUniversity Children's Hospital Zurich · CHUniversity of Freiburg · DEBaylor College of Medicine · USGreat Ormond Street Hospital for Children NHS Foundation Trust · GBHospices Civils de Lyon · FRInserm · FRInstitut des Maladies Génétiques Imagine · FRNational Institute of Allergy and Infectious Diseases · USNational Institutes of Health Clinical Center · USNewcastle University · GBNewcastle upon Tyne Hospitals NHS Foundation Trust · GB
Funding
Genes And Gene Products As ImmunoadjuvantsZIAAI000647 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI HOLLAND, STEVEN · 2009 to 2025
$22.6MTransgenic Animal Models Of Human Immune DefectsZIAAI000646 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI HOLLAND, STEVEN · 2009 to 2025
$22.2MDepartment of Health RP-2014-05-007
Abstract
X-linked recessive ectodermal dysplasia with immunodeficiency is a rare primary immunodeficiency caused by hypomorphic mutations of the
Indexed as
Hematopoietic Stem Cell TransplantationChild, PreschoolCohort StudiesHeterozygoteHumansI-kappa B KinaseInfantInfant, NewbornInflammationInflammatory Bowel DiseasesMutationNF-kappa BPhenotypeSignal TransductionSurvival AnalysisTissue DonorsI-kappa B KinaseIKBKG protein, humanNF-kappa B
Identifiers
What OpenQuestion holds
Textmetadata
Read underepoch 390
Registered trials
NCT02735824ClinicalTrials.gov
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.