ArticleScience immunology2022
DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1/IL-1 signaling.
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Article in Science immunology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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32citing papers in PubMed
4.7field-weighted citation impact, top 4% of its field
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Who cites it
32 citing papers in PubMed, 47 citations in OpenAlex.
- DPP9 inhibition boosts antitumor immunity by disrupting BRISC-mediated PD-L1 expression in clear cell renal cell carcinoma.Cell death and differentiation · 2026Article
- Reverse genetics in humanized mice reveals CARD8-mediated pyroptosis causing pancytopenia in human DPP9 deficiency.The Journal of clinical investigation · 2026Article
- Type III interferons attenuates Th1/Th17 cell pathogenicity and regulates retinal pigment epithelium cells via NLRP1/NLRP3 signaling axis in autoimmune uveitis.Genes & diseases · 2026Article
- Advances in targeting IL-1 family cytokines for the treatment of inflammatory diseases.Nature reviews. Rheumatology · 2026Review
- DPP9-mediated inflammasome repression protects against checkpoint inhibitor lung toxicity.bioRxiv : the preprint server for biology · 2026Article
- Decoding variants of uncertain significance in systemic autoinflammatory diseases.Nature reviews. Rheumatology · 2026Review
- Reverse genetics in humanized mice reveals CARD8-mediated pyroptosis causing pancytopenia in human DPP9 deficiency.bioRxiv : the preprint server for biology · 2026Article
- Disease-associated genetic variants can cause missense effects in tissue-specific protein isoforms.Nature communications · 2026Article
- Proximity labeling reveals non-catalytic interactions between DPP9 and ubiquitin signaling complexes.Cellular and molecular life sciences : CMLS · 2026Article
- Methylation of DPP9 regulates immune surveillance in non-small cell lung cancer by promoting macrophage ferroptosis via WWP2 ubiquitination.American journal of cancer research · 2026Article
- Using Blood-Based Biomarkers to Facilitate the Diagnosis of Alzheimer's Disease: Insights from a Novel Pyroptosis-Associated Molecular Signature Model.Molecular neurobiology · 2025Article
- IL-1 family cytokines in inflammation and immunity.Cellular & molecular immunology · 2025Review
- Molecular mechanisms and regulation of inflammasome activation and signaling: sensing of pathogens and damage molecular patterns.Cellular & molecular immunology · 2025Review
- A Photocaged N-Phosphonopiperidinone as a Selective Photo-Cleavable DPP8/9 Inhibitor.Chembiochem : a European journal of chemical biology · 2025Article
- A fluorescent sensor for real-time monitoring of DPP8/9 reveals crucial roles in immunity and cancer.Life science alliance · 2025Article
- Hippocampal dipeptidyl peptidase 9 bidirectionally regulates memory associated with synaptic plasticity.Journal of advanced research · 2025Article
- The non-structural protein of SFTSV activates NLRP1 and CARD8 inflammasome through disrupting the DPP9-mediated ternary complex.PLoS pathogens · 2025Article
- Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee.Journal of human immunity · 2025Article
- The multifunctional regulatory post-proline protease dipeptidyl peptidase 9 and its inhibitors: new opportunities for therapeutics.Cellular and molecular life sciences : CMLS · 2025Review
- Functional validation to explore the protective role of miR-223 in Staphylococcus aureus-induced bovine mastitis.Journal of animal science and biotechnology · 2025Article
Corrections and comments
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Authors and funding
29 authors at 15 institutions in 9 countries.
Cassandra R HarapasInflammation Division, the Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.ORCID 0000-0002-8875-4645
Kim S RobinsonSkin Research Institute of Singapore (SRIS), A*STAR, Singapore, Singapore.ORCID 0000-0003-1182-8789
Kenneth LayLaboratory of Human Genetics and Therapeutics, Genome Institute of Singapore (GIS), A*STAR, Singapore, Singapore.ORCID 0000-0001-8843-5567
Jasmine WongLaboratory of Human Genetics and Therapeutics, Genome Institute of Singapore (GIS), A*STAR, Singapore, Singapore.
Ricardo Moreno TraspasLaboratory of Human Genetics and Therapeutics, Genome Institute of Singapore (GIS), A*STAR, Singapore, Singapore.ORCID 0000-0003-2607-107X
Nasrin NabavizadehLaboratory of Human Genetics and Therapeutics, Genome Institute of Singapore (GIS), A*STAR, Singapore, Singapore.
Annick Rass-Rothschildthe Institute for Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Bertrand BoissonSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, the Rockefeller University, New York, NY, USA.ORCID 0000-0001-5240-3555
Scott B DrutmanSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, the Rockefeller University, New York, NY, USA.
Pawat LaohamonthonkulInflammation Division, the Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.ORCID 0000-0003-1261-1848
Devon BonnerCenter for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.
Jingwei Rachel XiongSkin Research Institute of Singapore (SRIS), A*STAR, Singapore, Singapore.ORCID 0000-0003-1040-5397
Mark D GorrellCentenary Institute, the University of Sydney Faculty of Medicine and Health, Sydney, New South Wales, Australia.ORCID 0000-0002-0528-2604
Sophia DavidsonInflammation Division, the Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.ORCID 0000-0002-0034-1310
Chien-Hsiung YuInflammation Division, the Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.ORCID 0000-0003-1744-3791
Mark D FlemingDepartment of Pathology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.ORCID 0000-0003-0948-4024
Jonas GuderaDana-Farber/Boston Children's Cancer and Blood Disorders Center, Harvard Medical School, Boston, MA, USA.ORCID 0000-0002-6066-754X
Jerry Steinthe Rina Zaizov Hematology-Oncology Division, Schneider Children's Medical Center of Israel, Felsenstein Medical Research Center, Tel Aviv University, Tel Aviv, Israel.
Miriam Ben-HaroshDepartment of Pediatric Hemato-Oncology, Soroka University Medical Center, Ben-Gurion University of the Negev, Beer-Sheva, Israel.ORCID 0000-0003-1715-9950
Emily GroopmanProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Akiko ShimamuraDana-Farber/Boston Children's Cancer and Blood Disorders Center, Harvard Medical School, Boston, MA, USA.ORCID 0000-0002-4683-9958
Hannah Tamarythe Rina Zaizov Hematology-Oncology Division, Schneider Children's Medical Center of Israel, Felsenstein Medical Research Center, Tel Aviv University, Tel Aviv, Israel.
Hülya KayseriliMedical Genetics Department, Koç University School of Medicine (KUSOM), Istanbul, Turkey.ORCID 0000-0003-0376-499X
Nevin HatipoğluDepartment of Pediatric Infection, Health Science University, Bakırköy Dr. Sadi Konuk Training and Research Hospital, Istanbul, Turkey.ORCID 0000-0003-2858-0150
Jean-Laurent CasanovaSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, the Rockefeller University, New York, NY, USA.ORCID 0000-0002-7782-4169
Jonathan A BernsteinDepartment of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.ORCID 0000-0001-5369-346X
Franklin L ZhongSkin Research Institute of Singapore (SRIS), A*STAR, Singapore, Singapore.ORCID 0000-0002-0516-6021
Seth L MastersInflammation Division, the Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.ORCID 0000-0003-4763-576X
Bruno ReversadeLaboratory of Human Genetics and Therapeutics, Genome Institute of Singapore (GIS), A*STAR, Singapore, Singapore.ORCID 0000-0002-4070-7997
Agency for Science, Technology and Research · SGThe University of Melbourne · AUHarvard University · USSchneider Children's Medical Center · ILStanford University · USBen-Gurion University of the Negev · ILBoston Children's Hospital · USBroad Institute · USCentenary Institute · AUEdmond and Lily Safra Children's Hospital · ILHoward Hughes Medical Institute · USInserm · FRKoç University · TRRockefeller University · USUniversity of Health Science · KH
Funding
Developing, Demonstrating, and Disseminating Innovative Programs to Achieve Translational SuccessUL1TR001866 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY, KRUEGER, JAMES G · 2016 to 2025
$40.6MSystems Biology of Bone Marrow Failure and MDS for Precision MedicineRC2DK122533 · NIDDK · BOSTON CHILDREN'S HOSPITAL · PI FIGUEROA, MARIA EUGENIA, FLEMING, MARK D · 2019 to 2023
$6.4MA powerful web-based discovery platform for rare disease geneticsR01HG009141 · NHGRI · BROAD INSTITUTE, INC. · PI QUINLAN, AARON R, REHM, HEIDI L · 2017 to 2020
$2.9MHoward Hughes Medical InstituteNCATS NIH HHS UL1 TR001866NHGRI NIH HHS R01 HG009141NIDDK NIH HHS RC2 DK122533Wellcome Trust
Abstract
Dipeptidyl peptidase 9 (DPP9) is a direct inhibitor of NLRP1, but how it affects inflammasome regulation in vivo is not yet established. Here, we report three families with immune-associated defects, poor growth, pancytopenia, and skin pigmentation abnormalities that segregate with biallelic
Indexed as
Apoptosis Regulatory ProteinsDipeptidyl-Peptidases and Tripeptidyl-PeptidasesInflammasomesAdaptor Proteins, Signal TransducingAnimalsInterleukin-1MiceNLR ProteinsZebrafishZebrafish ProteinsAdaptor Proteins, Signal TransducingApoptosis Regulatory Proteinsdipeptidyl peptidase 9, mouseDipeptidyl-Peptidases and Tripeptidyl-Peptidasesdpp9 protein, zebrafishInflammasomesInterleukin-1NALP1 protein, mouseNLR ProteinsZebrafish Proteins
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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.