ArticleCell2017
Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity.
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Article in Cell, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 1 of them a synthesis that pooled it.
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47citing papers in PubMed, 1 pooled it
5.3field-weighted citation impact, top 4% of its field
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Who cites it
47 citing papers in PubMed, 1 synthesis or guideline pooled it, 81 citations in OpenAlex.
- Immunoglobulins with Non-Canonical Functions in Inflammatory and Autoimmune Disease States.International journal of molecular sciences · 2020Pooled it
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- The monogenic landscape of human infectious diseases.The Journal of allergy and clinical immunology · 2025Review
- Learning from inborn errors of immunity and secondary immune deficiencies about vaccine immunogenicity, efficacy, and safety.Clinical and experimental immunology · 2025Review
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- Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin.Science (New York, N.Y.) · 2022Article
- The Influence of Antibiotic Resistance on Innate Immune Responses toAntibiotics (Basel, Switzerland) · 2022Review
- Human Disease Phenotypes Associated with Loss and Gain of Function Mutations in STAT2: Viral Susceptibility and Type I Interferonopathy.Journal of clinical immunology · 2021Review
- Host genetics and infectious disease: new tools, insights and translational opportunities.Nature reviews. Genetics · 2021Review
Corrections and comments
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Authors and funding
34 authors at 17 institutions in 4 countries.
Laura IsraelLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France; Paris Descartes University, Imagine Institute, 75015 Paris, France.
Ying WangCenter for the Genetics of Host Defense, University of Texas Southwestern Medical Center, Dallas, TX 75390-8505, USA.
Katarzyna BulekDepartment of Immunology, Cleveland Clinic Foundation, Cleveland, OH 44106, USA.
Erika Della MinaLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France; Paris Descartes University, Imagine Institute, 75015 Paris, France.
Zhao ZhangCenter for the Genetics of Host Defense, University of Texas Southwestern Medical Center, Dallas, TX 75390-8505, USA.
Vincent PedergnanaLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France; Paris Descartes University, Imagine Institute, 75015 Paris, France.
Maya ChrabiehLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France; Paris Descartes University, Imagine Institute, 75015 Paris, France.
Nicole A LemmensMedical Microbiology and Infectious Diseases, Erasmus Medical Center, 3015 Rotterdam, the Netherlands.
Vanessa Sancho-ShimizuLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France; Paris Descartes University, Imagine Institute, 75015 Paris, France; Department of Virology, Imperial College London, Norfolk Place, London W21 PG, UK; Section for Paediatrics, Department of Medicine, Imperial College London, London W21 PG, UK.
Marc DescatoireINSERM U1151-CNRS UMR 8253, Paris Descartes University, Necker-Enfants Malades Medical School-Broussais, 75014 Paris, France.
Théo LasseauLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France; Paris Descartes University, Imagine Institute, 75015 Paris, France.
Elisabeth IsraelssonBenaroya Research Institute at Virginia Mason, Seattle, WA 98101, USA.
Lazaro LorenzoLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France; Paris Descartes University, Imagine Institute, 75015 Paris, France.
Ling YunLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France; Paris Descartes University, Imagine Institute, 75015 Paris, France.
Aziz BelkadiLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France; Paris Descartes University, Imagine Institute, 75015 Paris, France.
Andrew MoranGreater Manchester Immunology Service, Manchester Royal Infirmary, Manchester, M13 9WL, UK.
Leonard E WeismanBaylor College of Medicine, Texas Children's Hospital, Houston, TX 77030, USA.
François VandeneschFrench National Reference Center for Staphylococci, Hospices Civils of Lyon, 69677 Bron Cedex, France.
Frederic BatteuxDepartment of Biological Immunology, Cochin Hospital, 75679 Paris, France.
Sandra WellerINSERM U1151-CNRS UMR 8253, Paris Descartes University, Necker-Enfants Malades Medical School-Broussais, 75014 Paris, France.
Michael LevinSection for Paediatrics, Department of Medicine, Imperial College London, London W21 PG, UK.
Jethro HerbergSection for Paediatrics, Department of Medicine, Imperial College London, London W21 PG, UK.
Avinash AbhyankarSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.
Carolina PrandoSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.
Yuval ItanSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.
Willem J B van WamelMedical Microbiology and Infectious Diseases, Erasmus Medical Center, 3015 Rotterdam, the Netherlands.
Capucine PicardLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France; Paris Descartes University, Imagine Institute, 75015 Paris, France; Pediatric Hematology-Immunology Unit, Assistance Publique Hôpitaux de Paris, Necker Hospital, 75015 Paris, France; Study Center for Primary Immunodeficiencies, AP-HP, Necker Hospital, 75015 Paris, France.
Laurent AbelLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France; Paris Descartes University, Imagine Institute, 75015 Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.
Damien ChaussabelBenaroya Research Institute at Virginia Mason, Seattle, WA 98101, USA.
Xiaoxia LiDepartment of Immunology, Cleveland Clinic Foundation, Cleveland, OH 44106, USA.
Bruce BeutlerCenter for the Genetics of Host Defense, University of Texas Southwestern Medical Center, Dallas, TX 75390-8505, USA.
Peter D ArkwrightUniversity of Manchester, Royal Manchester Children's Hospital, Manchester M13 9WL, UK.
Jean-Laurent CasanovaLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France; Paris Descartes University, Imagine Institute, 75015 Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA; Pediatric Hematology-Immunology Unit, Assistance Publique Hôpitaux de Paris, Necker Hospital, 75015 Paris, France; Howard Hughes Medical Institute, New York, NY 10065, USA. Electronic address: jean-laurent.casanova@rockefeller.edu.
Anne PuelLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France; Paris Descartes University, Imagine Institute, 75015 Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA. Electronic address: anne.puel@inserm.fr.
Inserm · FRRockefeller University · USThe University of Texas Southwestern Medical Center · USUniversité Paris Cité · FRAssistance Publique – Hôpitaux de Paris · FRCleveland Clinic · USErasmus MC · NLImperial College London · GBInstitut des Maladies Génétiques Imagine · FRInstitut Necker Enfants Malades · FRBaylor College of Medicine · USBenaroya Research InstituteHôpital Cochin · FRHospices Civils de Lyon · FRManchester Royal Infirmary · GBUniversity of Manchester · GBVirginia Mason Medical Center · US
Funding
Developing, Demonstrating, and Disseminating Innovative Programs to Achieve Translational SuccessUL1TR001866 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY, KRUEGER, JAMES G · 2016 to 2025
$40.6MTELOMERASE INACTIVATION BY RNASE L SIGNALS CELL DEATHP01CA062220 · NCI · CLEVELAND CLINIC LERNER COM-CWRU · PI LI, XIAOXIA, STARK, GEORGE ROBERT · 1994 to 2020
$35.6MVascular Cell function and AtherosclerosisP01HL029582 · NHLBI · CLEVELAND CLINIC LERNER COM-CWRU · PI FOX, PAUL L · 1985 to 2019
$32.0MTransforming Translational Science and Education to Benefit Human HealthUL1TR000043 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY · 2012 to 2015
$26.8MTargeting pathological hyaluronan matricesP01HL103453 · NHLBI · CLEVELAND CLINIC LERNER COM-CWRU · PI ERZURUM, SERPIL C. · 2011 to 2020
$26.8MAirway redox biochemistry as a deteriminant of asthma phenotype during adolescen*U10HL109250 · NHLBI · UNIVERSITY OF VIRGINIA · PI ERZURUM, SERPIL C., GASTON, BENJAMIN · 2011 to 2016
$4.2MMRF_ C0483NCATS NIH HHS UL1 TR000043NCATS NIH HHS UL1 TR001866NCI NIH HHS P01 CA062220NHLBI NIH HHS P01 HL029582NHLBI NIH HHS P01 HL103453NHLBI NIH HHS U10 HL109250
Abstract
The molecular basis of the incomplete penetrance of monogenic disorders is unclear. We describe here eight related individuals with autosomal recessive TIRAP deficiency. Life-threatening staphylococcal disease occurred during childhood in the proband, but not in the other seven homozygotes. Responses to all Toll-like receptor 1/2 (TLR1/2), TLR2/6, and TLR4 agonists were impaired in the fibroblasts and leukocytes of all TIRAP-deficient individuals. However, the whole-blood response to the TLR2/6 agonist staphylococcal lipoteichoic acid (LTA) was abolished only in the index case individual, the only family member lacking LTA-specific antibodies (Abs). This defective response was reversed in the patient, but not in interleukin-1 receptor-associated kinase 4 (IRAK-4)-deficient individuals, by anti-LTA monoclonal antibody (mAb). Anti-LTA mAb also rescued the macrophage response in mice lacking TIRAP, but not TLR2 or MyD88. Thus, acquired anti-LTA Abs rescue TLR2-dependent immunity to staphylococcal LTA in individuals with inherited TIRAP deficiency, accounting for incomplete penetrance. Combined TIRAP and anti-LTA Ab deficiencies underlie staphylococcal disease in this patient.
Indexed as
Adaptive ImmunityAntibodies, MonoclonalChildFemaleFibroblastsHumansImmunity, InnateLipopolysaccharidesMacrophagesMaleMembrane GlycoproteinsMonocytesMyeloid Differentiation Factor 88PedigreePhagocytesPoint MutationAntibodies, MonoclonalLipopolysaccharideslipoteichoic acidMembrane GlycoproteinsMYD88 protein, humanMyeloid Differentiation Factor 88Protein IsoformsReceptors, Interleukin-1Teichoic AcidsTIRAP protein, humanTLR2 protein, humanToll-Like Receptor 2Toll-Like Receptorsanti-LTA antibodiesincomplete clinical penetrancelipoteichoic acidLTAprimary immunodeficiencystaphylococcus aureusTIRAPtoll-like receptors
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