ArticleNature genetics2017
Germline hypomorphic CARD11 mutations in severe atopic disease.
Erratum issuedAbstract read
In one paragraph
Article in Nature genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 114 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
114citing papers in PubMed, 1 pooled it
9.2field-weighted citation impact, top 1% of its field
What it found
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Who cites it
114 citing papers in PubMed, 1 synthesis or guideline pooled it, 214 citations in OpenAlex.
- Pooled it
- Non-parametric Heat Map Representation of Flow Cytometry Data: Identifying Cellular Changes Associated With Genetic Immunodeficiency Disorders.Frontiers in immunology · 2019Trial
- Why variant effect predictors and multiplexed assays agree and disagree.Nature communications · 2026Article
- Primary atopic disorders: Monogenic insights into immunity.Journal of human immunity · 2026Review
- Oncostatin M receptor deficiency as a novel candidate genetic cause of autosomal recessive hyper-IgE syndrome.Journal of human immunity · 2026Article
- B-cell lymphocytosis and reprogramming due to biallelic CARD11 mutations.The Journal of allergy and clinical immunology · 2026Article
- Mechanistic Insights Into Immune Cell Dysregulation Mediated by Novel Heterozygous Variants in CARD11 and MALT1.Journal of clinical immunology · 2026Article
- Deleterious germline CARD11 gain-of-function variants alter human B-cell and CD4+ T-cell differentiation and function.Clinical and experimental immunology · 2026Article
- A novel case of autosomal recessive CARD11 loss-of-function underlying impaired antiviral immunity and a review of literature.Clinical & translational immunology · 2026Article
- Pathological IgE Production in Inborn Errors of Immunity and Beyond.Immunological reviews · 2025Review
- Pulmonary features and stage of disease in adult patients with hyper-IgE syndrome: a single-centre clinical study and literature review.Orphanet journal of rare diseases · 2025Article
- Dominant interfering CARD11 variants disrupt JNK signaling to promote GATA3 expression in T cells.The Journal of experimental medicine · 2025Article
- Identifying genetic errors of immunity due to mosaicism.The Journal of experimental medicine · 2025Review
- A novelThe journal of allergy and clinical immunology. Global · 2025Article
- QRICH1 mediates an intracellular checkpoint for CD8Science immunology · 2025Article
- Inborn Errors of Immunity Presenting with Early-Onset Severe Atopy.Medicina (Kaunas, Lithuania) · 2025Review
- The genetics of hyper IgE syndromes.Frontiers in immunology · 2025Review
- Article
- Article
- From syndromic clues to diagnosis: understanding CARD11-driven disorders.Frontiers in immunology · 2025Review
54 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
39 authors at 11 institutions in 3 countries.
Chi A MaLaboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.
Jeffrey R StinsonDepartment of Pharmacology and Molecular Therapeutics, Uniformed Services University of the Health Sciences, Bethesda, Maryland, USA.
Yuan ZhangLaboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.
Jordan K AbbottImmunodeficiency Diagnosis and Treatment Program, Department of Pediatrics, National Jewish Health, Denver, Colorado, USA.
Michael A WeinreichLaboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.
Pia J HaukImmunodeficiency Diagnosis and Treatment Program, Department of Pediatrics, National Jewish Health, Denver, Colorado, USA.
Paul R ReynoldsImmunodeficiency Diagnosis and Treatment Program, Department of Pediatrics, National Jewish Health, Denver, Colorado, USA.
Jonathan J LyonsLaboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.ORCID http://orcid.org/0000-0002-2346-8189
Celeste G NelsonLaboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.
Elisa RuffoDepartment of Pharmacology and Molecular Therapeutics, Uniformed Services University of the Health Sciences, Bethesda, Maryland, USA.
Batsukh DorjbalDepartment of Pharmacology and Molecular Therapeutics, Uniformed Services University of the Health Sciences, Bethesda, Maryland, USA.
Salomé GlauzyDepartment of Immunobiology, Yale University School of Medicine, New Haven, Connecticut, USA.
Natsuko YamakawaDepartment of Immunobiology, Yale University School of Medicine, New Haven, Connecticut, USA.
Swadhinya ArjunarajaDepartment of Pharmacology and Molecular Therapeutics, Uniformed Services University of the Health Sciences, Bethesda, Maryland, USA.
Kelsey VossDepartment of Pharmacology and Molecular Therapeutics, Uniformed Services University of the Health Sciences, Bethesda, Maryland, USA.
Jennifer StoddardImmunology Service, Department of Laboratory Medicine, NIH Clinical Center, National Institutes of Health, Bethesda, Maryland, USA.
Julie NiemelaImmunology Service, Department of Laboratory Medicine, NIH Clinical Center, National Institutes of Health, Bethesda, Maryland, USA.
Yu ZhangHuman Immunological Disease Section, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.
Sergio D RosenzweigImmunology Service, Department of Laboratory Medicine, NIH Clinical Center, National Institutes of Health, Bethesda, Maryland, USA.
Joshua J McElweeMerck Research Laboratories, Merck and Co., Inc., Boston, Massachusetts, USA.
Thomas DiMaggioLaboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.
Helen F MatthewsHuman Immunological Disease Section, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.
Nina JonesClinical Research Directorate/Clinical Monitoring Research Program, Leidos Biomedical Research, Inc., NCI Campus at Frederick, Frederick, Maryland, USA.
Kelly D StoneLaboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.
Alejandro PalmaServicio de Immunología y Reumatología, Hospital Nacional de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina.
Matías OleastroServicio de Immunología y Reumatología, Hospital Nacional de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina.
Emma PrietoServicio de Immunología y Reumatología, Hospital Nacional de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina.
Andrea R BernasconiServicio de Immunología y Reumatología, Hospital Nacional de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina.
Geronimo DubraServicio de Immunología y Reumatología, Hospital Nacional de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina.
Silvia DanielianServicio de Immunología y Reumatología, Hospital Nacional de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina.
Jonathan ZaiatServicio de Immunología y Reumatología, Hospital Nacional de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina.
Marcelo A MartiServicio de Immunología y Reumatología, Hospital Nacional de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina.
Brian KimDivision of Dermatology, Department of Medicine, Washington University School of Medicine, St. Louis, Missouri, USA.
Megan A CooperDepartment of Pediatrics, Division of Rheumatology and Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri, USA.
Neil RombergDepartment of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Eric MeffreDepartment of Immunobiology, Yale University School of Medicine, New Haven, Connecticut, USA.
Erwin W GelfandImmunodeficiency Diagnosis and Treatment Program, Department of Pediatrics, National Jewish Health, Denver, Colorado, USA.
Andrew L SnowDepartment of Pharmacology and Molecular Therapeutics, Uniformed Services University of the Health Sciences, Bethesda, Maryland, USA.
Joshua D MilnerLaboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.
National Institutes of Health · USGarrahan Hospital · ARUniformed Services University of the Health Sciences · USNational Jewish Health · USNational Institutes of Health Clinical Center · USYale University · USWashington University in St. Louis · USChildren's Hospital of Philadelphia · USLeidos (United States) · USMerck & Co., Inc., Rahway, NJ, USA (United States) · USUniversità degli Studi del Piemonte Orientale “Amedeo Avogadro” · IT
Funding
Regulation of IgA class switching in the intestinal mucosaP01AI061093 · NIAID · MOUNT SINAI SCHOOL OF MEDICINE OF NYU · PI CERUTTI, ANDREA · 2004 to 2021
$29.8MStudies of Inherited Causes of Fungal SusceptabilityZIAAI001122 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI ROSENZWEIG, SERGIO · 2010 to 2025
$26.0MTranslational studies in allergic reactions and inflammationZIAAI001192 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI LYONS, JONATHAN · 2014 to 2023
$12.7MGenetic and Pathophysiologic Study of Atopic DiseaseZIAAI001183 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI MILNER, JOSHUA · 2013 to 2019
$8.7MPathogenesis and Treatment of Atopic DermatitisZIAAI001098 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI MILNER, JOSHUA · 2009 to 2019
$6.5MSAP/NTB-A Signaling in T Cell Restimulation-Induced Cell DeathR01GM105821 · NIGMS · HENRY M. JACKSON FDN FOR THE ADV MIL/MED · PI SNOW, ANDREW L · 2015 to 2019
$1.6MBLOCKING AUTOANTIBODY SECRETION IN CVID PATIENTS WITH ITP BY IL-2 RESTORED TREGSK23AI115001 · NIAID · YALE UNIVERSITY · PI ROMBERG, NEIL DAVID · 2015 to 2019
$909kB Cell immunodeficiency in BENTA diseaseR21AI109187 · NIAID · HENRY M. JACKSON FDN FOR THE ADV MIL/MED · PI SNOW, ANDREW L · 2014 to 2015
$412kMutation Analysis Of Selected Lymphoid Immune DisordersZIACL010304 · CLC · CLINICAL CENTER · PI ROSENZWEIG, SERGIO · 2009 to 2025
$0kIntramural NIH HHS Z99 AI999999Intramural NIH HHS ZIA AI001098NIAID NIH HHS K23 AI115001NIAID NIH HHS P01 AI061093NIAID NIH HHS R21 AI109187NIGMS NIH HHS R01 GM105821
Abstract
Few monogenic causes for severe manifestations of common allergic diseases have been identified. Through next-generation sequencing on a cohort of patients with severe atopic dermatitis with and without comorbid infections, we found eight individuals, from four families, with novel heterozygous mutations in CARD11, which encodes a scaffolding protein involved in lymphocyte receptor signaling. Disease improved over time in most patients. Transfection of mutant CARD11 expression constructs into T cell lines demonstrated both loss-of-function and dominant-interfering activity upon antigen receptor-induced activation of nuclear factor-κB and mammalian target of rapamycin complex 1 (mTORC1). Patient T cells had similar defects, as well as low production of the cytokine interferon-γ (IFN-γ). The mTORC1 and IFN-γ production defects were partially rescued by supplementation with glutamine, which requires CARD11 for import into T cells. Our findings indicate that a single hypomorphic mutation in CARD11 can cause potentially correctable cellular defects that lead to atopic dermatitis.
Indexed as
Germ-Line MutationAmino Acid Transport System ASCCARD Signaling Adaptor ProteinsCohort StudiesDermatitis, AtopicDNA Mutational AnalysisFemaleGenes, DominantGlutamineGuanylate CyclaseHumansJurkat CellsLymphocyte ActivationMaleMechanistic Target of Rapamycin Complex 1Minor Histocompatibility AntigensAmino Acid Transport System ASCCARD11 protein, humanCARD Signaling Adaptor ProteinsGlutamineGuanylate CyclaseMechanistic Target of Rapamycin Complex 1Minor Histocompatibility AntigensMultiprotein ComplexesNF-kappa BSLC1A5 protein, humanTOR Serine-Threonine Kinases
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