ArticleProceedings of the National Academy of Sciences of the United States of America2019
Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases.
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In one paragraph
Article in Proceedings of the National Academy of Sciences of the United States of America, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 110 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
110citing papers in PubMed, 1 pooled it
7.5field-weighted citation impact, top 2% of its field
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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.
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Who cites it
110 citing papers in PubMed, 1 synthesis or guideline pooled it, 188 citations in OpenAlex.
- Receptor-interacting protein kinase 1 (RIPK1) as a therapeutic target.Nature reviews. Drug discovery · 2020Pooled it
- A Randomized Phase I Trial Evaluating Safety and Pharmacokinetics of Single and Multiple Ascending Doses of Eclitasertib, a RIPK1 Inhibitor, in Healthy Participants.Advances in therapy · 2025Trial
- Biological consequences of Z-nucleic acid sensing by ZBP1 and ADAR1.RNA biology · 2026Review
- Death domain-mediated higher-order oligomerization of RIPK1 drives TNF-induced signaling.Cell death and differentiation · 2026Article
- A Rare RIPK3 Variant Enhances Necroptosis and Promotes Inflammation in a Still Disease-Like Autoinflammatory Syndrome.Arthritis & rheumatology (Hoboken, N.J.) · 2026Article
- Mechanisms, regulation and clinical relevance of necroptosis.Nature reviews. Molecular cell biology · 2026Review
- Interface between inborn errors of immunity and rheumatological disorders in children: A pediatrician's conundrum.World journal of clinical pediatrics · 2026Review
- Human ZBP1 is a potent inducer of cell death through mechanisms divergent from mouse ZBP1.EMBO reports · 2026Article
- The dual role of RIPK family in IBD: from cell death to therapeutic targeting.Molecular medicine (Cambridge, Mass.) · 2026Review
- BIRC3 (Encoding cIAP2) Variants Result in Dysregulated RIPK1 Signaling Leading to Increased Epithelial Cell Death and Are Associated With Monogenic Crohn's Disease.Gastroenterology · 2026Article
- RIPK1 ubiquitination regulates its kinase-independent function in development and inflammation.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- CD8Nature communications · 2026Article
- Monogenic forms of inflammatory bowel disease: Genetic mechanisms, models, and clinical implications.Molecular medicine (Cambridge, Mass.) · 2026Review
- Monogenic disorders of the TNF signalling pathway.Nature reviews. Rheumatology · 2026Review
- Gastroenterological disorders in inborn errors of immunity. Part 2 A. Overview of selected diseases.Przeglad gastroenterologiczny · 2026Review
- Necroptotic cell death consequences and disease relevance.Nature immunology · 2025Review
- Three decades of caspases and RIPKs in life and death.Human molecular genetics · 2025Review
- Role of NLRP3 Inflammasomes in Disorders of Children's Digestive Systems: A Narrative Review.Pediatric reports · 2025Review
- Targeting the RAGE-RIPK1 binding site attenuates diabetes-associated cognitive deficits.Journal of neuroinflammation · 2025Article
- FDA-approved phensuximide inhibits RIPK1-dependent immunogenic cell death.Cell death & disease · 2025Article
50 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
36 authors at 14 institutions in 8 countries.
Yue LiDr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital, Ludwig-Maximilians-Universität (LMU) Munich, 80337 Munich, Germany.
Marita FührerThe Institute for Transfusion Medicine, University of Ulm, 89081 Ulm, Germany.
Ehsan BahramiDr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital, Ludwig-Maximilians-Universität (LMU) Munich, 80337 Munich, Germany.
Piotr SochaDepartment of Gastroenterology, Hepatology, Nutritional Disorders and Pediatrics, The Children's Memorial Health Institute, 04730 Warsaw, Poland.
Maja Klaudel-DreszlerDepartment of Gastroenterology, Hepatology, Nutritional Disorders and Pediatrics, The Children's Memorial Health Institute, 04730 Warsaw, Poland.
Amira BouzidiDr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital, Ludwig-Maximilians-Universität (LMU) Munich, 80337 Munich, Germany.
Yanshan LiuDr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital, Ludwig-Maximilians-Universität (LMU) Munich, 80337 Munich, Germany.
Anna S LehleDr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital, Ludwig-Maximilians-Universität (LMU) Munich, 80337 Munich, Germany.
Thomas MaggDr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital, Ludwig-Maximilians-Universität (LMU) Munich, 80337 Munich, Germany.
Sebastian HollizeckDr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital, Ludwig-Maximilians-Universität (LMU) Munich, 80337 Munich, Germany.
Meino RohlfsDr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital, Ludwig-Maximilians-Universität (LMU) Munich, 80337 Munich, Germany.
Raffaele ConcaDr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital, Ludwig-Maximilians-Universität (LMU) Munich, 80337 Munich, Germany.
Michael FieldDivision of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, Boston, MA 02115.
Neil WarnerSickKids Inflammatory Bowel Disease Center, Research Institute, Hospital for Sick Children, Toronto, ON M5G1X8, Canada.
Slae MordechaiPediatric Gastroenterology, Hadassah University Hospital, Jerusalem 91120, Israel.
Eyal ShteyerThe Juliet Keidan Institute of Pediatric Gastroenterology and Nutrition, Shaare Zedek Medical Center, The Hebrew University of Jerusalem, Jerusalem 91031, Israel.
Dan TurnerThe Juliet Keidan Institute of Pediatric Gastroenterology and Nutrition, Shaare Zedek Medical Center, The Hebrew University of Jerusalem, Jerusalem 91031, Israel.
Rachida BoukariPediatric Department, University Hospital Center Mustapha Bacha, 16000 Algiers, Algeria.
Reda BelbouabPediatric Department, University Hospital Center Mustapha Bacha, 16000 Algiers, Algeria.
Christoph WalzInstitute of Pathology, Faculty of Medicine, LMU Munich, 80336 Munich, Germany.
Moritz M GaidtGene Center, LMU Munich, 81337 Munich, Germany.
Veit HornungGene Center, LMU Munich, 81337 Munich, Germany.
Bernd BaumannInstitute of Physiological Chemistry, University of Ulm, 89081 Ulm, Germany.
Ulrich PannickeThe Institute for Transfusion Medicine, University of Ulm, 89081 Ulm, Germany.
Eman Al IdrissiAllergy and Immunology Section, King Fahad Medical City, Children Specialized Hospital, 11525 Riyadh, Saudi Arabia.
Hamza Ali AlghamdiAllergy and Immunology Section, King Fahad Medical City, Children Specialized Hospital, 11525 Riyadh, Saudi Arabia.
Fernando E SepulvedaImagine Institute, Paris Descartes-Sorbonne Paris Cité University, 75015 Paris, France.
Marine GilImagine Institute, Paris Descartes-Sorbonne Paris Cité University, 75015 Paris, France.
Geneviève de Saint BasileImagine Institute, Paris Descartes-Sorbonne Paris Cité University, 75015 Paris, France.
Manfred HönigDepartment of Pediatrics, University Medical Center Ulm, 89081 Ulm, Germany.
Sibylle KoletzkoDr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital, Ludwig-Maximilians-Universität (LMU) Munich, 80337 Munich, Germany.
Aleixo M MuiseSickKids Inflammatory Bowel Disease Center, Research Institute, Hospital for Sick Children, Toronto, ON M5G1X8, Canada.
Scott B SnapperDivision of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, Boston, MA 02115.
Klaus SchwarzThe Institute for Transfusion Medicine, University of Ulm, 89081 Ulm, Germany.
Christoph KleinDr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital, Ludwig-Maximilians-Universität (LMU) Munich, 80337 Munich, Germany.
Daniel KotlarzDr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital, Ludwig-Maximilians-Universität (LMU) Munich, 80337 Munich, Germany; daniel.kotlarz@med.uni-muenchen.de.
Ludwig-Maximilians-Universität München · DEUniversität Ulm · DEChildren's Memorial Health Institute · PLHôpital Mustapha Pacha · DZKing Fahd Medical City · SALMU Klinikum · DEShaare Zedek Medical Center · ILBoston Children's Hospital · USDélégation Paris 5 · FRGerman Red Cross · DEHadassah Academic College · ILHôpital Necker-Enfants Malades · FRInstitut des Maladies Génétiques Imagine · FRSickKids Foundation · CA
Funding
STRUCTURE-FUNCTION RELATIONSHIPS IN THE ALIMENTARY TRACTP30DK034854 · NIDDK · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI JONATHAN C KAGAN · 1986 to 2026
$32.4MNIDDK NIH HHS P30 DK034854
Abstract
Receptor-interacting serine/threonine-protein kinase 1 (RIPK1) is a critical regulator of cell death and inflammation, but its relevance for human disease pathogenesis remains elusive. Studies of monogenic disorders might provide critical insights into disease mechanisms and therapeutic targeting of RIPK1 for common diseases. Here, we report on eight patients from six unrelated pedigrees with biallelic loss-of-function mutations in
Indexed as
Cell DifferentiationInflammatory Bowel DiseasesIntestinal MucosaReceptor-Interacting Protein Serine-Threonine KinasesSevere Combined ImmunodeficiencyB-LymphocytesEpithelial CellsFemaleHCT116 CellsHEK293 CellsHumansImmunity, MucosalMaleMutationNF-kappa BT-LymphocytesNF-kappa BReceptor-Interacting Protein Serine-Threonine KinasesRIPK1 protein, humaninflammatory bowel diseasesprimary immunodeficiencyrare diseases
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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.