ArticleThe Journal of clinical investigation2018
Inherited p40phox deficiency differs from classic chronic granulomatous disease.
Open access · bronzeAbstract read
In one paragraph
Article in The Journal of clinical investigation, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 71 papers.
0numbers the graph read from it
0cells of the map it votes in
71citing papers in PubMed
7.0field-weighted citation impact, top 2% 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
71 citing papers in PubMed, 129 citations in OpenAlex.
- Human inborn errors of the phagocyte respiratory burst: Chronic granulomatous disease and beyond.Journal of human immunity · 2026Article
- Chronic granulomatous disease: Clinical, microbial, and genetic findings in 39 Colombian patients.Journal of human immunity · 2026Article
- Cell surface liposome binding (CLiB) allows lipid-binding probe engineering via high-throughput screening.Nature cell biology · 2026Article
- Molecular Views into the Synthesis and Activation of FlavocytochromeAntioxidants (Basel, Switzerland) · 2026Review
- How I Treat: Chronic granulomatous disease.Journal of human immunity · 2026Review
- Beyond survival: Multisystem long-term outcomes following HSCT in chronic granulomatous disease.Journal of human immunity · 2026Article
- A case report of a patient with chronic granulomatous disease complicated by invasive aspergillosis and disseminatedFrontiers in medicine · 2026Article
- Chronic granulomatous disease secondary to a rare compound heterozygote mutation in an adolescent cured by hematopoietic stem cell transplantation: a case report.Frontiers in pediatrics · 2026Article
- Phagocyte NADPH Oxidase NOX2-Derived Reactive Oxygen Species in Antimicrobial Defense: Mechanisms, Regulation, and Therapeutic Potential-A Narrative Review.Antioxidants (Basel, Switzerland) · 2025Review
- Clinical features, genotypes, and geographic distribution of 238 Latin American CGD patients.Journal of human immunity · 2025Article
- Dissecting antimicrobial logic: species-specific strategies for intracellular pathogen defense.mSphere · 2025Review
- Description of invasive aspergillosis in Mexican patients with chronic granulomatous disease.Journal of human immunity · 2025Article
- Human immunity to fungal infections.The Journal of experimental medicine · 2025Review
- [A case of hepatitis-associated aplastic anemia complicated by hemophagocytic lymphohistiocytosis and literature review].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Review
- The Role of NADPH Oxidase 2 in Leukocytes.Antioxidants (Basel, Switzerland) · 2025Review
- Functional assays for the diagnosis of chronic granulomatous disease.Journal of immunological methods · 2025Review
- Chronic granulomatous disease: lessons in cell biology from monogenic immunodeficiency.Clinical and experimental immunology · 2025Review
- The value of DHR-enzyme-linked immunosorbent assay in the diagnosis of chronic granulomatous disease by detecting NADPH oxidase complex activity.Frontiers in pediatrics · 2025Article
- Standardization of the use of opsonized zymosan as stimulus in the 1,2,3-dihydrorhodamine technique for the assessment of neutrophil respiratory burstBiomedica : revista del Instituto Nacional de Salud · 2024Article
- Expanding the Clinical Phenotype of Autosomal Recessive Chronic Granulomatous Disease.Journal of clinical immunology · 2024Article
11 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
59 authors at 20 institutions in 13 countries.
Annemarie van de GeerDepartment of Blood Cell Research, Sanquin Research, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.
Alejandro Nieto-PatlánLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
Douglas B KuhnsNeutrophil Monitoring Laboratory, Clinical Services Program, Leidos Biomedical Research Inc., Frederick National Laboratory for Cancer Research, Frederick, Maryland, USA.
Anton Tj ToolDepartment of Blood Cell Research, Sanquin Research, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.
Andrés A AriasPrimary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, and.
Matthieu BouazizLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
Martin de BoerDepartment of Blood Cell Research, Sanquin Research, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.
José Luis FrancoPrimary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, and.
Roel P GazendamDepartment of Blood Cell Research, Sanquin Research, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.
John L van HammeDepartment of Blood Cell Research, Sanquin Research, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.
Michel van HoudtDepartment of Blood Cell Research, Sanquin Research, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.
Karin van LeeuwenDepartment of Blood Cell Research, Sanquin Research, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.
Paul Jh VerkuijlenDepartment of Blood Cell Research, Sanquin Research, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.
Timo K van den BergDepartment of Blood Cell Research, Sanquin Research, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.
Juan F AlzateNational Center for Genomic Sequencing - CNSG-SIU, School of Medicine, University of Antioquia, Medellin, Colombia.
Carlos A Arango-FrancoPrimary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, and.
Vritika BaturaDepartment of Pediatrics and Biochemistry, University of Toronto, Hospital for Sick Children, Toronto, Ontario, Canada.
Andrea R BernasconiService of Immunology and Rheumatology, Garrahan National Pediatric Hospital, Buenos Aires, Argentina.
Barbara BoardmanDepartment of Pediatric Allergy and Immunology, Royal Manchester Children's Hospital, University of Manchester, Manchester, United Kingdom.
Claire BoothDepartment of Immunology, Great Ormond Street Hospital, NHS Foundation Trust, London, United Kingdom.
Siobhan O BurnsInstitute of Immunity and Transplantation, University College London, London, United Kingdom.
Felipe CabarcasNational Center for Genomic Sequencing - CNSG-SIU, School of Medicine, University of Antioquia, Medellin, Colombia.
Nadine Cerf BensussanLaboratory of Intestinal Immunity, INSERM U1163, Imagine Institute, Paris, France.
Fabienne Charbit-HenrionLaboratory of Intestinal Immunity, INSERM U1163, Imagine Institute, Paris, France.
Anniek CorveleynDepartment of Human Genetics, University Hospitals Leuven, Leuven, Belgium.
Caroline DeswarteLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
María Esnaola AzcoitiLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
Dirk FoellDepartment of Pediatric Rheumatology and Immunology, Munster University Hospital, Munster, Germany.
John I GallinLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, Maryland, USA.
Carlos GarcésPrimary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, and.
Margarida GuedesDepartment of Pediatrics, Santo Antonio Hospital, Porto, Portugal.
Claas H HinzeDepartment of Pediatric Rheumatology and Immunology, Munster University Hospital, Munster, Germany.
Steven M HollandLaboratory of Clinical Infectious Diseases, NIAID, NIH, Bethesda, Maryland, USA.
Stephen M HughesDepartment of Pediatric Allergy and Immunology, Royal Manchester Children's Hospital, University of Manchester, Manchester, United Kingdom.
Patricio IbañezInflammatory Bowel Disease Program, Gastroenterology Department, Clinic Las Condes Medical Center, University of Chile, Santiago de Chile, Chile.
Harry L MalechLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, Maryland, USA.
Isabelle MeytsDepartment of Pediatric Hematology and Oncology and.
Marcela Moncada-VelezPrimary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, and.
Kunihiko MoriyaLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
Esmeralda NevesDepartment of Immunology, Santo Antonio Hospital, Porto, Portugal.
Matias OleastroService of Immunology and Rheumatology, Garrahan National Pediatric Hospital, Buenos Aires, Argentina.
Laura PerezService of Immunology and Rheumatology, Garrahan National Pediatric Hospital, Buenos Aires, Argentina.
Vimel RattinaLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
Carmen Oleaga-QuintasLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
Neil WarnerSickKids Inflammatory Bowel Disease Center and Cell Biology Program, Research Institute, and.
Aleixo M MuiseDepartment of Pediatrics and Biochemistry, University of Toronto, Hospital for Sick Children, Toronto, Ontario, Canada.
Jeanet Serafín LópezDepartment of Immunology, National School of Biological Science, National Polytechnic Institute, ENCB - IPN, Mexico.
Eunice TrindadePediatric Gastroenterology Unit, Sao Joao Hospital, Porto, Portugal.
Julia VasconcelosDepartment of Immunology, Santo Antonio Hospital, Porto, Portugal.
Séverine VermeireDivision of Gastroenterology and Hepatology, University Hospitals Leuven, Leuven, Belgium.
Helmut WittkowskiDepartment of Pediatric Rheumatology and Immunology, Munster University Hospital, Munster, Germany.
Austen WorthDepartment of Immunology, Great Ormond Street Hospital, NHS Foundation Trust, London, United Kingdom.
Laurent AbelLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
Mary C DinauerDepartment of Pediatrics, Washington University School of Medicine, Saint Louis, Missouri, USA.
Peter D ArkwrightDepartment of Pediatric Allergy and Immunology, Royal Manchester Children's Hospital, University of Manchester, Manchester, United Kingdom.
Dirk RoosDepartment of Blood Cell Research, Sanquin Research, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.
Jean-Laurent CasanovaLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
Taco W KuijpersDepartment of Blood Cell Research, Sanquin Research, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.
Jacinta BustamanteLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
Sanquin · NLInserm · FRUniversidad de Antioquia · COGarrahan Hospital · ARHospital de Santo António · PTKU Leuven · BENational Institute of Allergy and Infectious Diseases · USRoyal Manchester Children's Hospital · GBUniversity Hospital Münster · DEDélégation Paris 5 · FRGreat Ormond Street Hospital for Children NHS Foundation Trust · GBUniversity of Toronto · CAAmsterdam UMC Location University of Amsterdam · NLClínica Las Condes · CLHospital de São João · PTHoward Hughes Medical Institute · USLeidos (United States) · USRoyal Free London NHS Foundation Trust · GBSickKids Foundation · CATecnológico Nacional de México · MX
Funding
Transforming Translational Science and Education to Benefit Human HealthUL1TR000043 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY · 2012 to 2015
$26.8MTransgenic Animal Models Of Human Immune DefectsZIAAI000646 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI HOLLAND, STEVEN · 2009 to 2025
$22.2MGene Therapy Basic Research to Treat Inherited Primary Immune DeficienciesZIAAI000644 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI MALECH, HARRY L · 2009 to 2025
$12.1MDevelopment and Clinical Application of Gene and Cell therapies for Patients with Immune DeficienciesZIAAI000645 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI DE RAVIN, SUK SEE · 2009 to 2025
$10.1MBasic Research on Hematopoietic Human Stem CellsZIAAI000988 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI MALECH, HARRY L · 2009 to 2019
$6.5MGenome-Wide Dissection of Mendelian Susceptibility to Mycobacterial DiseaseR37AI095983 · NIAID · ROCKEFELLER UNIVERSITY · PI CASANOVA, JEAN-LAURENT · 2011 to 2020
$4.6MGene Therapy Clinical Trials for Chronic Granulomatous DiseaseZIAAI000991 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI KANG, ELIZABETH · 2009 to 2019
$3.4MClinical Studies Of Abnormal Host DefenseZIAAI000155 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI GALLIN, JOHN I · 2009 to 2022
$3.1MA genetic dissection of Mendelian susceptibility to mycobacterial diseases (MSMD)R01AI089970 · NIAID · ROCKEFELLER UNIVERSITY · PI CASANOVA, JEAN-LAURENT · 2010 to 2014
$2.5MCCR NIH HHS HHSN261200800001CGates Foundation INV-030001NCATS NIH HHS UL1 TR000043NCI NIH HHS HHSN261200800001ENIAID NIH HHS R01 AI089970NIAID NIH HHS R37 AI095983
Abstract
Biallelic loss-of-function (LOF) mutations of the NCF4 gene, encoding the p40phox subunit of the phagocyte NADPH oxidase, have been described in only 1 patient. We report on 24 p40phox-deficient patients from 12 additional families in 8 countries. These patients display 8 different in-frame or out-of-frame mutations of NCF4 that are homozygous in 11 of the families and compound heterozygous in another. When overexpressed in NB4 neutrophil-like cells and EBV-transformed B cells in vitro, the mutant alleles were found to be LOF, with the exception of the p.R58C and c.120_134del alleles, which were hypomorphic. Particle-induced NADPH oxidase activity was severely impaired in the patients' neutrophils, whereas PMA-induced dihydrorhodamine-1,2,3 (DHR) oxidation, which is widely used as a diagnostic test for chronic granulomatous disease (CGD), was normal or mildly impaired in the patients. Moreover, the NADPH oxidase activity of EBV-transformed B cells was also severely impaired, whereas that of mononuclear phagocytes was normal. Finally, the killing of Candida albicans and Aspergillus fumigatus hyphae by neutrophils was conserved in these patients, unlike in patients with CGD. The patients suffer from hyperinflammation and peripheral infections, but they do not have any of the invasive bacterial or fungal infections seen in CGD. Inherited p40phox deficiency underlies a distinctive condition, resembling a mild, atypical form of CGD.
Indexed as
Loss of Function MutationAdolescentAdultAllelesChildChild, PreschoolFemaleGene Knockout TechniquesGranulomatous Disease, ChronicHEK293 CellsHumansMaleMiddle AgedMutant ProteinsNADPH OxidasesPedigreeMutant ProteinsNADPH Oxidasesneutrophil cytosol factor 40KPhosphoproteinsRNA, MessengerGeneticsImmunologyInflammatory bowel diseaseMacrophagesNeutrophils
Identifiers
What OpenQuestion holds
Textmetadata
Read underepoch 390
Registered trials
None linked
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.