ArticleNature genetics2014
JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia.
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Article in Nature genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 62 papers.
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62citing papers in PubMed
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Who cites it
62 citing papers in PubMed, 141 citations in OpenAlex.
- Coordinated control of proteasome subunit gene expression promotes stress resistance, proteostasis, and longevity.GeroScience · 2026Article
- Machine learning-based gait classification and genome-wide association identify a QTL for gait type in Colombian paso horses.iScience · 2026Article
- Phenotypic Variability Associated with Jagunal Homolog 1 (JAGN1) Deficiency Caused by the c.63G>T Variant.International journal of molecular sciences · 2026Article
- Flavopiridol restores granulopoiesis in experimental models of severe congenital neutropenia.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- A new severe congenital neutropenia syndrome associated with autosomal recessive COPZ1 mutations.Blood · 2025Article
- Extended clinical phenotypes and treatment modalities in 32 JAGN1-deficient patients: a multicenter study by ESID and EBMT IEWP.Blood advances · 2025Article
- A large cohort from an immunology reference center and an algorithm for the follow-up of chronic neutropenia.Journal of clinical immunology · 2024Article
- A JAGN1-associated severe congenital neutropenia zebrafish model revealed an altered G-CSFR signaling and UPR activation.Blood advances · 2024Article
- Neutropenia in Childhood-A Narrative Review and Practical Diagnostic Approach.Hematology reports · 2024Review
- Association of neutrophil defects with oral ulcers but undetermined role of neutrophils in recurrent aphthous stomatitis.Heliyon · 2024Review
- Case report: Granulocyte-macrophage colony-stimulating factor sargramostim did not rescue the neutrophil phenotype in two patients with JAGN1-mutant severe congenital neutropenia.Frontiers in immunology · 2024Article
- A deficiency screen of the 3rd chromosome for dominant modifiers of the Drosophila ER integral membrane protein, Jagunal.G3 (Bethesda, Md.) · 2023Article
- CRISPR screens identify novel regulators of cFLIP dependency and ligand-independent, TRAIL-R1-mediated cell death.Cell death and differentiation · 2023Article
- JAGN1 mutation with distinct clinical features; two case reports and literature review.BMC pediatrics · 2023Review
- Article
- Severe congenital neutropenia due to jagunal homolog 1 (Frontiers in pediatrics · 2023Article
- Syndromes predisposing to leukemia are a major cause of inherited cytopenias in children.Haematologica · 2022Article
- Lymphocyte cytosolic protein 1 (L-plastin) I232F mutation impairs granulocytic proliferation and causes neutropenia.Blood advances · 2022Article
- Case Report: Association between cyclic neutropenia and SRP54 deficiency.Frontiers in immunology · 2022Article
- Assessment of Congenital Neutropenia in Children: Common Clinical Sceneries and Clues for Management.Mediterranean journal of hematology and infectious diseases · 2022Review
2 more citing papers are in PubMed but not listed here.
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Authors and funding
35 authors at 13 institutions in 7 countries.
Kaan Boztug1] CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria. [2] Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
Päivi M JärvinenDepartment of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig Maximilians University, Munich, Germany.
Elisabeth SalzerCeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
Tomas RacekDepartment of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig Maximilians University, Munich, Germany.
Sebastian MönchDepartment of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig Maximilians University, Munich, Germany.
Wojciech GarncarzCeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
E Michael GertzComputational Biology Branch, National Center for Biotechnology Information, US National Institutes of Health, Bethesda, Maryland, USA.
Alejandro A SchäfferComputational Biology Branch, National Center for Biotechnology Information, US National Institutes of Health, Bethesda, Maryland, USA.
Aristotelis AntonopoulosDepartment of Life Sciences, Imperial College London, London, UK.
Stuart M HaslamDepartment of Life Sciences, Imperial College London, London, UK.
Lena SchieckDepartment of Pediatric Hematology/Oncology, Hannover Medical School, Hannover, Germany.
Jacek PuchałkaDepartment of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig Maximilians University, Munich, Germany.
Jana Diestelhorst1] Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig Maximilians University, Munich, Germany. [2] Department of Pediatric Hematology/Oncology, Hannover Medical School, Hannover, Germany.
Giridharan AppaswamyDepartment of Pediatric Hematology/Oncology, Hannover Medical School, Hannover, Germany.
Brigitte LescoeurDepartment of Hematology, Hospital R Debré, Paris, France.
Roberto GiambrunoCeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
Johannes W BigenzahnCeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
Ulrich EllingInstitute of Molecular Biotechnology of the Austrian Academy of Sciences (IMBA), Vienna, Austria.
Dietmar PfeiferDepartment of Hematology, Oncology and Stem Cell Transplantation, University Medical Center Freiburg, Freiburg, Germany.
Cecilia Domínguez CondeCeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
Michael H AlbertDepartment of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig Maximilians University, Munich, Germany.
Karl WelteDepartment of Pediatric Hematology/Oncology, Hannover Medical School, Hannover, Germany.
Gudrun BrandesDepartment of Cell Biology, Hannover Medical School, Hannover, Germany.
Roya SherkatAcquired Immunodeficiency Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.
Jutte van der Werff Ten BoschDepartment of Pediatrics, Hospital of the Free University of Brussels, Brussels, Belgium.
Nima RezaeiResearch Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Amos EtzioniDivision of Pediatrics and Immunology, Rappaport School of Medicine, Technion, Haifa, Israel.
Christine Bellanné-ChantelotGenetics Department, AP-HP Pitié-Salpêtrière Hospital, Pierre and Marie Curie University, Paris, France.
Giulio Superti-FurgaCeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.ORCID 0000000205701768
Josef M PenningerInstitute of Molecular Biotechnology of the Austrian Academy of Sciences (IMBA), Vienna, Austria.
Keiryn L BennettCeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
Julia von BlumeMax Planck Institute of Biochemistry, Martinsried, Germany.
Anne DellDepartment of Life Sciences, Imperial College London, London, UK.
Jean DonadieuNeutropenia Registry, Reference Center for Hereditary Immunodeficiencies, Pediatric Hematology, AP-HP, Armand Trousseau Children's Hospital, Paris, France.
Christoph KleinDepartment of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig Maximilians University, Munich, Germany.
Austrian Academy of Sciences · ATLudwig-Maximilians-Universität München · DEMedizinische Hochschule Hannover · DEImperial College London · GBInstitute of Molecular Biotechnology · ATNational Institutes of Health · USSorbonne Université · FRChildren's Medical Center · IRHôpital Robert-Debré · FRIsfahan University of Medical Sciences · IRMax Planck Institute of Biochemistry · DETechnion – Israel Institute of Technology · ILUniversity Medical Center Freiburg · DE
Funding
Case Studies In GeneticsZIALM000097 · NLM · NATIONAL LIBRARY OF MEDICINE · PI SCHAFFER, ALEJANDRO A · 2009 to 2019
$4.6MCase Studies In GeneticsZ01LM000097 · NLM · NATIONAL LIBRARY OF MEDICINE · PI SCHAFFER, ALEJANDRO A · 2002 to 2008
$452kAustrian Science Fund FWF Y 595Biotechnology and Biological Sciences Research Council BB/F0083091Biotechnology and Biological Sciences Research Council BB/K016164/1European Research Council 310857Intramural NIH HHS Z01 LM000097
Abstract
The analysis of individuals with severe congenital neutropenia (SCN) may shed light on the delicate balance of factors controlling the differentiation, maintenance and decay of neutrophils. We identify 9 distinct homozygous mutations in the JAGN1 gene encoding Jagunal homolog 1 in 14 individuals with SCN. JAGN1-mutant granulocytes are characterized by ultrastructural defects, a paucity of granules, aberrant N-glycosylation of multiple proteins and increased incidence of apoptosis. JAGN1 participates in the secretory pathway and is required for granulocyte colony-stimulating factor receptor-mediated signaling. JAGN1 emerges as a factor that is necessary in the differentiation and survival of neutrophils.
Indexed as
AdolescentAdultApoptosisCell DifferentiationCell SurvivalChildChild, PreschoolCongenital Bone Marrow Failure SyndromesFemaleGlycosylationHomeostasisHumansInfantInfant, NewbornMaleMembrane ProteinsJAGN1 protein, humanMembrane ProteinsReceptors, Granulocyte Colony-Stimulating Factor
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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.