ArticleNature communications2015
Association of CLEC16A with human common variable immunodeficiency disorder and role in murine B cells.
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In one paragraph
Article in Nature communications, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 5 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
41citing papers in PubMed, 5 pooled it
4.8field-weighted citation impact, top 4% of its field
What it found
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Who cites it
41 citing papers in PubMed, 5 syntheses or guidelines pooled it, 78 citations in OpenAlex.
- Large-scale GWAS meta-analysis of serum antibody levels in healthy individuals reveals distinct genetic architectures.Genes and immunity · 2026Pooled it
- Leveraging pleiotropy identifies common-variant associations with selective IgA deficiency.Clinical immunology (Orlando, Fla.) · 2024Pooled it
- Genome-wide association study implicates immune dysfunction in the development of Hodgkin lymphoma.Blood · 2018Pooled it
- Genome-wide association study of classical Hodgkin lymphoma identifies key regulators of disease susceptibility.Nature communications · 2017Pooled it
- Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency.Nature genetics · 2016Pooled it
- Exploring Monogenic, Polygenic, and Epigenetic Models of Common Variable Immunodeficiency.Human mutation · 2025Review
- Defining Mechanistic Links Between the Non-Coding Variant rs17673553 inInternational journal of molecular sciences · 2025Article
- Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency.Journal of clinical immunology · 2024Article
- Review
- CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment.Human genetics · 2023Article
- Cytokine dysregulation despite immunoglobulin replacement therapy in common variable immunodeficiency (CVID).Frontiers in immunology · 2023Article
- SOCS-JAK-STAT inhibitors and SOCS mimetics as treatment options for autoimmune uveitis, psoriasis, lupus, and autoimmune encephalitis.Frontiers in immunology · 2023Review
- Whole exome sequencing reveals a novel LRBA mutation and clonal hematopoiesis in a common variable immunodeficiency patient presented with hemophagocytic lymphohistiocytosis.Experimental hematology & oncology · 2021Article
- Beyond monogenetic rare variants: tackling the low rate of genetic diagnoses in predominantly antibody deficiency.Cellular & molecular immunology · 2021Review
- Zebrafish Cancer Predisposition Models.Frontiers in cell and developmental biology · 2021Review
- Gut Microbiome and Common Variable Immunodeficiency: Few Certainties and Many Outstanding Questions.Frontiers in immunology · 2021Review
- Mitophagy protects β cells from inflammatory damage in diabetes.JCI insight · 2020Article
- Genetic feature engineering enables characterisation of shared risk factors in immune-mediated diseases.Genome medicine · 2020Article
- C-Type Lectins in Veterinary Species: Recent Advancements and Applications.International journal of molecular sciences · 2020Review
- Article
Corrections and comments
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Authors and funding
39 authors at 16 institutions in 5 countries.
Jin LiCenter for Applied Genomics, Children's Hospital of Philadelphia, Abramson Research Center Suite 1216, 3615 Civic Center Boulevard, Philadelphia, Pennsylvania 19104, USA.
Silje F JørgensenK.G. Jebsen Inflammation Research Centre, Division of Cancer Medicine, Surgery and Transplantation, Research Institute of Internal Medicine, Oslo University Hospital, Rikshospitalet, 0424 Oslo, Norway.
S Melkorka Maggadottir1] Center for Applied Genomics, Children's Hospital of Philadelphia, Abramson Research Center Suite 1216, 3615 Civic Center Boulevard, Philadelphia, Pennsylvania 19104, USA [2] Division of Allergy and Immunology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Marina BakayCenter for Applied Genomics, Children's Hospital of Philadelphia, Abramson Research Center Suite 1216, 3615 Civic Center Boulevard, Philadelphia, Pennsylvania 19104, USA.
Klaus WarnatzCenter for Chronic Immunodeficiency (CCI), University Medical Center Freiburg, University of Freiburg, 79106 Freiburg, Germany.
Joseph GlessnerCenter for Applied Genomics, Children's Hospital of Philadelphia, Abramson Research Center Suite 1216, 3615 Civic Center Boulevard, Philadelphia, Pennsylvania 19104, USA.
Rahul PandeyCenter for Applied Genomics, Children's Hospital of Philadelphia, Abramson Research Center Suite 1216, 3615 Civic Center Boulevard, Philadelphia, Pennsylvania 19104, USA.
Ulrich SalzerCenter for Chronic Immunodeficiency (CCI), University Medical Center Freiburg, University of Freiburg, 79106 Freiburg, Germany.
Reinhold E SchmidtClinic for Immunology and Rheumatology, Hannover Medical School, D-30625 Hannover, Germany.
Elena PerezDivision of Pediatric Allergy and Immunology, University of Miami Miller School of Medicine, Miami, Florida 33136, USA.
Elena ResnickDepartment of Medicine, Institute of Immunology, Mount Sinai School of Medicine, New York, New York 10029, USA.
Sigune GoldackerCenter for Chronic Immunodeficiency (CCI), University Medical Center Freiburg, University of Freiburg, 79106 Freiburg, Germany.
Mary BuchtaCenter for Chronic Immunodeficiency (CCI), University Medical Center Freiburg, University of Freiburg, 79106 Freiburg, Germany.
Torsten WitteClinic for Immunology and Rheumatology, Hannover Medical School, D-30625 Hannover, Germany.
Leonid PadyukovRheumatology Unit, Department of Medicine, Karolinska Institutet and Karolinska University Hospital Solna, SE-17176 Stockholm, Sweden.ORCID 0000000329505670
Vibeke Videm1] Department of Laboratory Medicine, Children's and Women's Health, Norwegian University of Science and Technology, NO-7491 Trondheim, Norway [2] Department of Immunology and Transfusion Medicine, St Olavs Hospital, NO-7006 Trondheim, Norway.
Trine Folseraas1] K.G. Jebsen Inflammation Research Centre, Division of Cancer Medicine, Surgery and Transplantation, Research Institute of Internal Medicine, Oslo University Hospital, Rikshospitalet, 0424 Oslo, Norway [2] Norwegian PSC Research Center, Division of Cancer, Surgery and Transplantation, Oslo University Hospital, 0424 Oslo, Norway.
Faranaz AtschekzeiClinic for Immunology and Rheumatology, Hannover Medical School, D-30625 Hannover, Germany.
James T Elder1] Department of Dermatology, University of Michigan, Ann Arbor, Michigan 48109, USA [2] Ann Arbor Veterans Affairs Hospital, Ann Arbor, Michigan, 48105 USA.
Rajan P NairDepartment of Dermatology, University of Michigan, Ann Arbor, Michigan 48109, USA.
Juliane Winkelmann1] Institute of Human Genetics, Helmholtz Center Munich, German Research Center for Environmental Health, 85764 Neuherberg, Germany [2] Department of Neurology, MRI, Technische Universität München, 81675 München, Germany [3] SyNergy Munich Cluster for Systems Neurology, Ismaninger Str. 22, 81675 München, Germany [4] Stanford Center for Sleep Sciences and Medicine, 3165 Porter Drive, Palo Alto, CA 94301, USA.
Christian Gieger1] Institute of Genetic Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany [2] Research Unit of Molecular Epidemiology, German Research Center for Environmental Health, 85764 Neuherberg, Germany [3] Institute of Epidemiology II, Helmholtz Zentrum München - German Research Center for Environmental Health, 85764 Neuherberg, Germany.
Markus M Nöthen1] Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany [2] Department of Genomics, Life and Brain Center, University of Bonn, 53127 Bonn, Germany.
Carsten BüningDepartment of Hepatology and Gastroenterology, Charité, Campus Mitte, 14163 Berlin, Germany.
Stephan BrandUniversity Hospital Munich-Grosshadern, Department of Medicine II, Marchioninistr. 15, D-81377 Munich, Germany.
Kathleen E Sullivan1] Division of Allergy and Immunology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA [2] Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia,Pennsylvania 19104, USA.
Jordan S OrangeSection of Immunology, Allergy and Rheumatology, Department of Pediatric Medicine, Texas Children's Hospital, Houston, Texas 77030, USA.
Børre Fevang1] K.G. Jebsen Inflammation Research Centre, Division of Cancer Medicine, Surgery and Transplantation, Research Institute of Internal Medicine, Oslo University Hospital, Rikshospitalet, 0424 Oslo, Norway [2] Section of Clinical Immunology and Infectious Diseases, Oslo University Hospital, Rikshospitalet, 0424 Oslo, Norway.
Stefan SchreiberInstitute of Clinical Molecular Biology, Christian-Albrechts-University, 24105 Kiel, Germany.
Wolfgang LiebInstitute of Epidemiology and Biobank Popgen, Christian-Albrechts-University of Kiel, 24105 Kiel, Germany.
Pål Aukrust1] K.G. Jebsen Inflammation Research Centre, Division of Cancer Medicine, Surgery and Transplantation, Research Institute of Internal Medicine, Oslo University Hospital, Rikshospitalet, 0424 Oslo, Norway [2] Section of Clinical Immunology and Infectious Diseases, Oslo University Hospital, Rikshospitalet, 0424 Oslo, Norway.
Helen ChapelDepartment of Clinical Immunology, Nuffield Department of Medicine, University of Oxford, Oxford OX3 9DU, UK.
Charlotte Cunningham-RundlesDepartment of Medicine, Institute of Immunology, Mount Sinai School of Medicine, New York, New York 10029, USA.
Andre FrankeInstitute of Clinical Molecular Biology, Christian-Albrechts-University, 24105 Kiel, Germany.
Tom H Karlsen1] K.G. Jebsen Inflammation Research Centre, Division of Cancer Medicine, Surgery and Transplantation, Research Institute of Internal Medicine, Oslo University Hospital, Rikshospitalet, 0424 Oslo, Norway [2] Norwegian PSC Research Center, Division of Cancer, Surgery and Transplantation, Oslo University Hospital, 0424 Oslo, Norway [3] Institute of Clinical Medicine, University of Oslo, 0424 Oslo, Norway.
Bodo GrimbacherCenter for Chronic Immunodeficiency (CCI), University Medical Center Freiburg, University of Freiburg, 79106 Freiburg, Germany.
Hakon Hakonarson1] Center for Applied Genomics, Children's Hospital of Philadelphia, Abramson Research Center Suite 1216, 3615 Civic Center Boulevard, Philadelphia, Pennsylvania 19104, USA [2] Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA [3] The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
Lennart HammarströmDivision of Clinical Immunology and Transfusion Medicine, Department of Laboratory Medicine, Karolinska University Hospital, Huddinge, SE-14186 Stockholm, Sweden.
Eva EllinghausInstitute of Clinical Molecular Biology, Christian-Albrechts-University, 24105 Kiel, Germany.ORCID 0000000329143382
Children's Hospital of Philadelphia · USOslo University Hospital · NOUniversity of Freiburg · DEMedizinische Hochschule Hannover · DEHelmholtz Zentrum München · DEIcahn School of Medicine at Mount Sinai · USKarolinska University Hospital · SEUniversity of Michigan · USCharité - Universitätsmedizin Berlin · DEChristian-Albrechts-Universität zu Kiel · DELMU Klinikum · DENorwegian University of Science and Technology · NOTexas Children's Hospital · USUniversity of Bonn · DEUniversity of Miami · USUniversity of Oxford · GB
Funding
Regulation of IgA class switching in the intestinal mucosaP01AI061093 · NIAID · MOUNT SINAI SCHOOL OF MEDICINE OF NYU · PI FURTADO, GLAUCIA C · 2004 to 2021
$29.8MLinkage analysis of familial psoriasis(Supplement)R01AR042742 · NIAMS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ELDER, JAMES TILFORD · 1994 to 2021
$10.1MResources to Assist Investigations in Primary Immunodeficiency Diseases (U24)U24AI086037 · NIAID · IMMUNE DEFICIENCY FOUNDATION · PI CUNNINGHAM-RUNDLES, CHARLOTTE · 2010 to 2019
$6.5MTARGETING PRIMARY IMMUNODEFICIENCY AMONG MINORITIESR18AI048693 · NIAID · MOUNT SINAI SCHOOL OF MEDICINE OF NYU · PI CUNNINGHAM-RUNDLES, CHARLOTTE · 2000 to 2016
$6.2MFine Mapping and Functional Evaluation of Selected Type 1 Diabetes LociDP3DK085708 · NIDDK · CHILDREN'S HOSP OF PHILADELPHIA · PI HAKONARSON, HAKON, POLYCHRONAKOS, CONSTANTIN · 2009 to 2009
$4.8MIntegrative Analysis of a GWAS Repository with EMRs from over 40,000 ChildrenU01HG006830 · NHGRI · CHILDREN'S HOSP OF PHILADELPHIA · PI HAKONARSON, HAKON · 2012 to 2014
$3.7MFunctional Genomics of PsoriasisR01AR065183 · NIAMS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ELDER, JAMES TILFORD · 2013 to 2016
$1.7MNHGRI NIH HHS U01 HG006830NHGRI NIH HHS U01HG006830NIAID NIH HHS P01 AI061093NIAID NIH HHS R18 AI048693NIAID NIH HHS U24 AI086037NIAMS NIH HHS R01 AR042742NIAMS NIH HHS R01 AR065183NIDDK NIH HHS DP3 DK085708
Abstract
Common variable immunodeficiency disorder (CVID) is the most common symptomatic primary immunodeficiency in adults, characterized by B-cell abnormalities and inadequate antibody response. CVID patients have considerable autoimmune comorbidity and we therefore hypothesized that genetic susceptibility to CVID may overlap with autoimmune disorders. Here, in the largest genetic study performed in CVID to date, we compare 778 CVID cases with 10,999 controls across 123,127 single-nucleotide polymorphisms (SNPs) on the Immunochip. We identify the first non-HLA genome-wide significant risk locus at CLEC16A (rs17806056, P=2.0 × 10(-9)) and confirm the previously reported human leukocyte antigen (HLA) associations on chromosome 6p21 (rs1049225, P=4.8 × 10(-16)). Clec16a knockdown (KD) mice showed reduced number of B cells and elevated IgM levels compared with controls, suggesting that CLEC16A may be involved in immune regulatory pathways of relevance to CVID. In conclusion, the CLEC16A associations in CVID represent the first robust evidence of non-HLA associations in this immunodeficiency condition.
Indexed as
AnimalsB-LymphocytesCase-Control StudiesCells, CulturedCommon Variable ImmunodeficiencyEuropeGene Expression RegulationGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansLectins, C-TypeLogistic ModelsMiceMonosaccharide Transport ProteinsOdds RatioPolymorphism, Single NucleotideCLEC16A protein, humanCLEC16A protein, mouseLectins, C-TypeMonosaccharide Transport Proteins
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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.