ArticleThe Journal of experimental medicine2021
Impaired respiratory burst contributes to infections in PKCδ-deficient patients.
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Article in The Journal of experimental medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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24citing papers in PubMed
2.2field-weighted citation impact, top 12% of its field
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Who cites it
24 citing papers in PubMed, 38 citations in OpenAlex.
- Human inborn errors of the phagocyte respiratory burst: Chronic granulomatous disease and beyond.Journal of human immunity · 2026Article
- Expanding the scope of PI3K-δ inhibition: Leniolisib treatment in PRKCD deficiency.Journal of human immunity · 2026Article
- Defining the human lung pathodegradome of the V8 protease fromInfection and immunity · 2026Article
- Spatial single-cell profiling identifies protein kinase Cδ-expressing microglia with anti-tumor function in glioblastoma.iScience · 2026Article
- Research on the correlation and potential mechanism of PKCδ expression with efficacy and prognosis in diffuse large B-cell lymphoma.Frontiers in oncology · 2026Article
- Mastering genetics for your clinic: A step-by-step guide.The Journal of allergy and clinical immunology · 2025Review
- Identification of marker genes associated with oxidative stress in hypertrophic cardiomyopathy using bioinformatics analysis and experimental validation.Scientific reports · 2025Article
- Protein Kinase C δ: a critical hub regulating macrophage immunomodulatory functions duringbioRxiv : the preprint server for biology · 2025Article
- How (Ultra-)Rare Gene Variants Improve Our Understanding of More Common Autoimmune and Inflammatory Diseases.ACR open rheumatology · 2025Review
- Novel Insights into the Pathogenesis of Inflammatory Bowel Diseases.Biomedicines · 2025Review
- Chronic granulomatous disease: lessons in cell biology from monogenic immunodeficiency.Clinical and experimental immunology · 2025Review
- Seropositive polyarthritis and diffuse lymphadenopathy associated with PRKCD mutation.Rheumatology (Oxford, England) · 2024Article
- Mendelian Causes of Autoimmunity: the Lupus Phenotype.Journal of clinical immunology · 2024Review
- Article
- Discovery of a novel ROS-based signature for predicting prognosis and immunosuppressive tumor microenvironment in lung adenocarcinoma.Journal of Cancer · 2024Article
- Protein kinase C delta regulates mononuclear phagocytes and hinders response to immunotherapy in cancer.Science advances · 2023Article
- Legacy and emerging per- and polyfluoroalkyl substances suppress the neutrophil respiratory burst.Journal of immunotoxicology · 2023Article
- Article
- Monogenic inflammatory bowel disease-genetic variants, functional mechanisms and personalised medicine in clinical practice.Human genetics · 2023Review
- Of Mycelium and Men: Inherent Human Susceptibility to Fungal Diseases.Pathogens (Basel, Switzerland) · 2023Review
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Authors and funding
35 authors at 16 institutions in 10 countries.
Anna-Lena NeehusLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale UMR 1163, Paris, France.ORCID 0000-0002-8573-6820
Kunihiko Moriya *Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale UMR 1163, Paris, France.ORCID 0000-0002-0418-5132
Alejandro Nieto-Patlán *Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale UMR 1163, Paris, France.ORCID 0000-0002-8668-6853
Tom Le VoyerLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale UMR 1163, Paris, France.ORCID 0000-0002-7253-3135
Romain LévyLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale UMR 1163, Paris, France.ORCID 0000-0002-6393-0198
Ahmet ÖzenDepartment of Pediatrics, Division of Allergy and Immunology, Marmara University, School of Medicine, Istanbul, Turkey.ORCID 0000-0002-9065-1901
Elif Karakoc-AydinerDepartment of Pediatrics, Division of Allergy and Immunology, Marmara University, School of Medicine, Istanbul, Turkey.ORCID 0000-0003-4150-5200
Safa BarisDepartment of Pediatrics, Division of Allergy and Immunology, Marmara University, School of Medicine, Istanbul, Turkey.ORCID 0000-0002-4730-9422
Alisan YildiranDepartment of Pediatric Immunology and Allergy, Ondokuz Mayıs University School of Medicine, Samsun, Turkey.ORCID 0000-0002-2918-6238
Engin AltundagDepartment of Medical Genetics, Ondokuz Mayis University Faculty of Medicine, Samsun, Turkey.ORCID 0000-0001-8841-1426
Manon RoynardLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale UMR 1163, Paris, France.ORCID 0000-0003-0668-002X
Kathrin HaakeInstitute of Experimental Hematology, REBIRTH Research Center for Translational and Regenerative Medicine, Hannover Medical School, Hannover, Germany.ORCID 0000-0002-3713-2694
Mélanie MigaudLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale UMR 1163, Paris, France.ORCID 0000-0003-3062-1214
Karim DorghamSorbonne University, Institut National de la Santé et de la Recherche Médicale, Center for Immunology and Microbial Infections, CIMI-Paris, Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Department of Immunology, Paris, France.ORCID 0000-0001-9539-3203
Guy GorochovSorbonne University, Institut National de la Santé et de la Recherche Médicale, Center for Immunology and Microbial Infections, CIMI-Paris, Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Department of Immunology, Paris, France.ORCID 0000-0003-2097-9677
Laurent AbelLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale UMR 1163, Paris, France.ORCID 0000-0001-7016-6493
Nico LachmannInstitute of Experimental Hematology, REBIRTH Research Center for Translational and Regenerative Medicine, Hannover Medical School, Hannover, Germany.ORCID 0000-0002-4245-1497
Figen Dogu *Department of Pediatric Immunology and Allergy, Ankara University School of Medicine, Ankara, Turkey.ORCID 0000-0002-7869-4941
Sule Haskologlu *Department of Pediatric Immunology and Allergy, Ankara University School of Medicine, Ankara, Turkey.ORCID 0000-0002-2668-0441
Erdal İnce *Department of Pediatric Infectious Disease, Ankara University School of Medicine, Ankara, Turkey.ORCID 0000-0002-3476-4610
Jamel El-Benna *University of Paris, Institut National de la Santé et de la Recherche Médical U1149, Centre National de la Recherche Scientifique-ERL8252, Paris, France.ORCID 0000-0001-5733-216X
Gulbu Uzel *Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.ORCID 0000-0002-3942-1086
Ayca Kiykim *Pediatric Allergy and Immunology, Marmara University Pediatric Training and Research Hospital, Istanbul, Turkey.ORCID 0000-0001-5821-3963
Kaan Boztug *CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.ORCID 0000-0001-8387-9185
Marion R Roderick *Pediatric Immunology and Infectious Disease, Bristol Royal Hospital for Children, Bristol, UK.ORCID 0000-0002-8481-6300
Mohammad Shahrooei *Specialized Immunology Laboratory of Dr. Shahrooei, Sina Medical Complex, Ahvaz, Iran.ORCID 0000-0002-4974-3441
Paul A Brogan *Infection, Inflammation, and Rheumatology Section, Infection, Immunity, Inflammation and Physiological Medicine Programme, University College London Institute of Child Health, London, UK.ORCID 0000-0001-6178-6893
Hassan Abolhassani *Department of Laboratory Medicine, Division of Clinical Immunology, Karolinska Institute at Karolinska University Hospital Huddinge, Stockholm, Sweden.ORCID 0000-0002-4838-0407
Gonca Hancioglu *Department of Pediatric Immunology and Allergy, Ondokuz Mayıs University School of Medicine, Samsun, Turkey.ORCID 0000-0003-4221-6232
Nima Parvaneh *Department of Pediatrics, Division of Allergy and Clinical Immunology, Tehran University of Medical Sciences, Tehran, Iran.ORCID 0000-0002-3397-9716
Alexandre Belot *Reference Center for Rare Rheumatic and Autoimmune Diseases in Children, Pediatric Rheumatology, Hospices Civils de Lyon, Centre International de Recherche en Infectiologie, Institut National de la Santé et de la Recherche Médicale U1111, UMS3444/US8 Lyon University, Lyon, France.ORCID 0000-0003-4902-5332
Aydan Ikinciogullari *Department of Pediatric Immunology and Allergy, Ankara University School of Medicine, Ankara, Turkey.ORCID 0000-0003-1145-0843
Jean-Laurent Casanova *Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale UMR 1163, Paris, France.ORCID 0000-0002-7782-4169
Anne Puel *Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale UMR 1163, Paris, France.ORCID 0000-0003-2603-0323
Jacinta Bustamante *Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale UMR 1163, Paris, France.ORCID 0000-0002-3439-2482
Inserm · FRAnkara University · TRMarmara University · TROndokuz Mayıs University · TRMedizinische Hochschule Hannover · DEAustrian Academy of Sciences · ATBristol Royal Hospital for Children · GBHospices Civils de Lyon · FRHoward Hughes Medical Institute · USIstanbul University-Cerrahpaşa · TRKarolinska University Hospital · SENational Institutes of Health · USSina Hospital · IRTehran University of Medical Sciences · IRUniversité Paris Cité · FRUniversity College London · GB
Funding
Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9MDeveloping, Demonstrating, and Disseminating Innovative Programs to Achieve Translational SuccessUL1TR001866 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY, KRUEGER, JAMES G · 2016 to 2025
$40.6MYale Center for Mendelian GenomicsUM1HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2016 to 2020
$14.8MGenome-wide search for inborn errors of IL-17 immunity underlying chronic mucocutaneous candidiasisR01AI127564 · NIAID · UT SOUTHWESTERN MEDICAL CENTER · PI Jean-Laurent Casanova · 2017 to 2026
$4.8MGenome-Wide Dissection of Mendelian Susceptibility to Mycobacterial DiseaseR37AI095983 · NIAID · ROCKEFELLER UNIVERSITY · PI CASANOVA, JEAN-LAURENT · 2011 to 2020
$4.6MGenome-Wide Dissection of Mendelian Susceptibility to Mycobacterial DiseaseR01AI095983 · NIAID · ROCKEFELLER UNIVERSITY · PI BUSTAMANTE, JACINTA, CASANOVA, JEAN-LAURENT · 2021 to 2025
$2.5MA genetic dissection of Mendelian susceptibility to mycobacterial diseases (MSMD)R01AI089970 · NIAID · ROCKEFELLER UNIVERSITY · PI CASANOVA, JEAN-LAURENT · 2010 to 2014
$2.5MDepartment of HealthHoward Hughes Medical InstituteNCATS NIH HHS UL1 TR001863NCATS NIH HHS UL1 TR001866NCRR NIH HHSNHGRI NIH HHS UM1 HG006504NHGRI NIH HHS UM1HG006504NIAID NIH HHS 5R01AI089970NIAID NIH HHS R01 AI089970NIAID NIH HHS R01 AI095983NIAID NIH HHS R01 AI127564NIAID NIH HHS R37 AI095983NIH HHS 8UL1TR001866
Abstract
Patients with autosomal recessive protein kinase C δ (PKCδ) deficiency suffer from childhood-onset autoimmunity, including systemic lupus erythematosus. They also suffer from recurrent infections that overlap with those seen in patients with chronic granulomatous disease (CGD), a disease caused by defects of the phagocyte NADPH oxidase and a lack of reactive oxygen species (ROS) production. We studied an international cohort of 17 PKCδ-deficient patients and found that their EBV-B cells and monocyte-derived phagocytes produced only small amounts of ROS and did not phosphorylate p40phox normally after PMA or opsonized Staphylococcus aureus stimulation. Moreover, the patients' circulating phagocytes displayed abnormally low levels of ROS production and markedly reduced neutrophil extracellular trap formation, altogether suggesting a role for PKCδ in activation of the NADPH oxidase complex. Our findings thus show that patients with PKCδ deficiency have impaired NADPH oxidase activity in various myeloid subsets, which may contribute to their CGD-like infectious phenotype.
Indexed as
B-LymphocytesFemaleHumansInfantInfectionsMaleNADPH OxidasesPedigreePhagocytosisPhosphorylationProtein IsoformsProtein Kinase C-deltaRespiratory BurstNADPH OxidasesPRKCD protein, humanProtein IsoformsProtein Kinase C-delta
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