ArticleThe Journal of experimental medicine2019
A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function.
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Article in The Journal of experimental medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 116 papers, 4 of them syntheses that pooled it.
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116citing papers in PubMed, 4 pooled it
16.7field-weighted citation impact, top 1% of its field
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Who cites it
116 citing papers in PubMed, 4 syntheses or guidelines pooled it, 194 citations in OpenAlex.
- Real-world use of emapalumab in hemophagocytic lymphohistiocytosis: a scoping review of published evidence.Frontiers in pharmacology · 2026Pooled it
- Auditory and Language Abilities in Children with Takenouchi-Kosaki Syndrome: A Systematic Review.Genes · 2024Pooled it
- Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis.The Journal of experimental medicine · 2024Pooled it
- HLH as an additional warning sign of inborn errors of immunity beyond familial-HLH in children: a systematic review.Frontiers in immunology · 2024Pooled it
- Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency.The Journal of allergy and clinical immunology · 2021Trial
- Advancements in Diagnosis and Care for Immune Dysregulation and Inborn Errors of Immunity in Pediatric Rheumatology: Our 50-Year Journey.Arthritis care & research · 2026Review
- Reactive oxygen species stimulate Paneth cell plasticity and diminish antimicrobial function.The EMBO journal · 2026Article
- Spectrum of Primary Hemophagocytic Lymphohistiocytosis-Associated Gene Mutations in Chinese Patients.MedComm · 2026Article
- Hearing loss associated with CDC42 in mice and humans (Takenouchi-Kosaki syndrome): CDC42 and RHOQ synergistically function in cochlear hair cells.The Journal of biological chemistry · 2026Article
- Complexities in the Diagnostic Evaluation and Treatment of Infant Hemophagocytic Lymphohistiocytosis.Hematology reports · 2026Article
- Decoding variants of uncertain significance in systemic autoinflammatory diseases.Nature reviews. Rheumatology · 2026Review
- A matter of switch: how RAC1 variants drive distinct disorders.European journal of human genetics : EJHG · 2026Article
- Interpreting the functional impact of genetic variants: The need for context qualifiers.American journal of human genetics · 2026Review
- Targeting Cdc42: Novel Approaches in Cardiovascular Disorders.Current protein & peptide science · 2026Review
- Genetic and molecular approaches for patients with familial hemophagocytic lymphohistiocytosis: a multi-center experience from Mexico.Frontiers in immunology · 2026Article
- Recent variant discoveries and emerging genetic mechanisms in autoinflammatory diseases.Frontiers in immunology · 2026Review
- Modified treatment protocol for pediatric systemic lupus erythematosus-associated hemophagocytic lymphohistiocytosis with central nervous system involvement: a case report.Frontiers in immunology · 2026Article
- KLHL23 and RhoGDI coordinate CDC42 inactivation ensuring membrane homeostasis.Nature chemical biology · 2025Article
- Cell Division Cycle 42 Improves Renal Functions, Fibrosis, Th1/Th17 Infiltration and Inflammation to Some Degree in Diabetic Nephropathy.Inflammation · 2025Article
- Allogeneic hematopoietic cell transplantation for autoinflammatory disorders.International journal of hematology · 2025Review
56 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
60 authors at 13 institutions in 6 countries.
Michael T Lam *Department of Pediatrics, Baylor College of Medicine, Houston, TX.ORCID 0000-0002-9832-2395
Simona Coppola *National Center for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.ORCID 0000-0001-7851-9409
Oliver H F Krumbach *Institute of Biochemistry and Molecular Biology II, Medical Faculty of the Heinrich-Heine University, Düsseldorf, Germany.
Giusi Prencipe *Immunology Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
Antonella Insalaco *Immunology Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
Cristina CifaldiAcademic Department of Pediatrics, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
Immacolata BrigidaSan Raffaele Telethon Institute for Gene Therapy, Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele Scientific Institute, Milan, Italy.
Erika ZaraNational Center for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.ORCID 0000-0003-0292-6862
Serena ScalaSan Raffaele Telethon Institute for Gene Therapy, Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele Scientific Institute, Milan, Italy.
Silvia Di CesareAcademic Department of Pediatrics, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
Simone MartinelliDepartment of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.
Martina Di RoccoDepartment of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.
Antonia PascarellaImmunology Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
Marcello NicetaGenetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
Francesca PantaleoniGenetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.ORCID 0000-0003-0765-9281
Andrea CiolfiGenetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
Petra NetterDepartment of Pediatrics, Baylor College of Medicine, Houston, TX.
Alexandre F CariseyDepartment of Pediatrics, Baylor College of Medicine, Houston, TX.
Michael DiehlDepartment of Bioengineering, Rice University, Houston, TX.
Mohammad AkbarzadehInstitute of Biochemistry and Molecular Biology II, Medical Faculty of the Heinrich-Heine University, Düsseldorf, Germany.
Francesca ContiAcademic Department of Pediatrics, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
Pietro MerliDepartment of Pediatric Hematology and Oncology, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
Anna PastoreGenetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
Stefano Levi MorteraGenetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.ORCID 0000-0001-6184-0933
Serena CameriniCore Facilities, Italian National Institute of Health, Rome, Italy.
Luciapia FarinaNational Center for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.
Marcel BuchholzerInstitute of Biochemistry and Molecular Biology II, Medical Faculty of the Heinrich-Heine University, Düsseldorf, Germany.ORCID 0000-0001-7485-6918
Luca PannoneDepartment of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.
Tram N CaoDepartment of Pediatrics, Baylor College of Medicine, Houston, TX.
Zeynep H Coban-AkdemirBaylor-Hopkins Center for Mendelian Genomics, Houston, TX.
Shalini N JhangianiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
Donna M MuznyDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
Richard A GibbsBaylor-Hopkins Center for Mendelian Genomics, Houston, TX.
Luca Basso-RicciSan Raffaele Telethon Institute for Gene Therapy, Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele Scientific Institute, Milan, Italy.
Maria ChiriacoAcademic Department of Pediatrics, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
Radovan DvorskyInstitute of Biochemistry and Molecular Biology II, Medical Faculty of the Heinrich-Heine University, Düsseldorf, Germany.
Lorenza PutignaniGenetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
Rita CarsettiImmunology Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.ORCID 0000-0002-2632-1078
Petra JanningDepartment of Chemical Biology, Max-Planck Institute of Molecular Physiology, Dortmund, Germany.
Asbjorg Stray-PedersenBaylor-Hopkins Center for Mendelian Genomics, Houston, TX.
Hans Christian ErichsenDepartment of Pediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
AnnaCarin HornePediatric Rheumatology, Astrid Lindgren Children's Hospital, Karolinska University Hospital, Stockholm, Sweden.
Yenan T BrycesonDepartment of Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden.ORCID 0000-0002-7783-9934
Lamberto Torralba-RagaDepartment of Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden.ORCID 0000-0002-5200-5482
Kim RammePediatric Hematology, Immunology and HCT Section, Astrid Lindgren Children's Hospital, Karolinska University Hospital, Stockholm, Sweden.
Vittorio RostiCenter for Myelofibrosis, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo, Pavia, Italy.ORCID 0000-0003-4195-2289
Claudia BracagliaImmunology Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
Virginia MessiaImmunology Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
Paolo PalmaAcademic Department of Pediatrics, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
Andrea FinocchiAcademic Department of Pediatrics, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
Franco LocatelliDepartment of Pediatric Hematology and Oncology, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
Ivan K ChinnDepartment of Pediatrics, Baylor College of Medicine, Houston, TX.
James R LupskiDepartment of Pediatrics, Baylor College of Medicine, Houston, TX.
Emily M MaceDepartment of Pediatrics, Columbia University, Irving Medical Center, New York, NY.ORCID 0000-0003-0226-7393
Caterina CancriniAcademic Department of Pediatrics, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
Alessandro AiutiSan Raffaele Telethon Institute for Gene Therapy, Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele Scientific Institute, Milan, Italy.
Mohammad R Ahmadian *Institute of Biochemistry and Molecular Biology II, Medical Faculty of the Heinrich-Heine University, Düsseldorf, Germany reza.ahmadian@hhu.de.
Jordan S Orange *Department of Pediatrics, Columbia University, Irving Medical Center, New York, NY jso2121@cumc.columbia.edu.
Fabrizio De Benedetti *Immunology Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy fabrizio.debenedetti@opbg.net.ORCID 0000-0001-8749-8232
Marco Tartaglia *Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy marco.tartaglia@opbg.net.ORCID 0000-0001-7736-9672
Bambino Gesù Children's Hospital · ITBaylor College of Medicine · USIstituto Superiore di Sanità · ITHeinrich Heine University Düsseldorf · DEKarolinska University Hospital · SEUniversity of Rome Tor Vergata · ITThe San Raffaele Telethon Institute for Gene Therapy · ITOslo University Hospital · NOColumbia University Irving Medical Center · USMax Planck Institute of Molecular Physiology · DENational Institute of Health · AMRice University · USVita-Salute San Raffaele University · IT
Funding
Baylor-Johns Hopkins Center for Mendelian GeneticsUM1HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2016 to 2020
$14.5MGENETIC, IMMUNOLOGIC AND MECHANISTIC BASIS OF HUMAN NK CELL DEFICIENCYR01AI120989 · NIAID · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI ORANGE, JORDAN SCOTT · 2016 to 2025
$7.7MDirecting Function at the Natural Killer Cell Secretory Immunological SynapseR01AI067946 · NIAID · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI ORANGE, JORDAN SCOTT · 2007 to 2019
$4.8MDirecting Function at the Natural Killer Cell Secretory Immunological SynapseR37AI067946 · NIAID · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Jordan Scott Orange · 2024 to 2026
$1.5MNHGRI NIH HHS UM1 HG006542NIAID NIH HHS R01 AI067946NIAID NIH HHS R01 AI120989NIAID NIH HHS R37 AI067946
Abstract
Hemophagocytic lymphohistiocytosis (HLH) is characterized by immune dysregulation due to inadequate restraint of overactivated immune cells and is associated with a variable clinical spectrum having overlap with more common pathophysiologies. HLH is difficult to diagnose and can be part of inflammatory syndromes. Here, we identify a novel hematological/autoinflammatory condition (NOCARH syndrome) in four unrelated patients with superimposable features, including neonatal-onset cytopenia with dyshematopoiesis, autoinflammation, rash, and HLH. Patients shared the same de novo
Indexed as
Disease SusceptibilityPhenotypeAllelesAmino Acid SubstitutionAnimalsBinding Sitescdc42 GTP-Binding ProteinCell Line, TumorChildFemaleGenetic Association StudiesGenotypeHumansInfantLymphohistiocytosis, HemophagocyticMalecdc42 GTP-Binding ProteinCDC42 protein, human
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