CINXE.COM

<!doctype html> <html lang="fr"> <head> <title>TNFRSF13B Variants in SLE and Immunodeficiency | 49496</title> <meta name="keywords" content="Chew GYJ, Gatenby PA, Mercan S, De Malmanche T, Adelstein S, Garsia R, Hissaria P, French MA, Riminton DS, Fulcher DA, Scorza R, D'Alfonso S, Doria A, Rúa Figueroa I, Cervera R, Vasconcelos C, Martins B, Alarcón Riquelme M, Vinuesa CG and Cook MC, "/> <meta name="description" content="Background: The co-existence of autoimmunity and primary antibody deficiency in some individiuals is intriguing. The transmembrane activator and calcium mo..49496"/> <meta name="citation_publisher" content="Longdom Publishing SL" /> <meta name="citation_journal_title" content="Journal d'immunologie clinique et cellulaire"> <meta name="citation_title" content="TNFRSF13B Variants in SLE and Immunodeficiency"> <meta name="citation_author" content="Chew GYJ" /> <meta name="citation_author" content="Gatenby PA" /> <meta name="citation_author" content="Mercan S" /> <meta name="citation_author" content="De Malmanche T" /> <meta name="citation_author" content="Adelstein S" /> <meta name="citation_author" content="Garsia R" /> <meta name="citation_author" content="Hissaria P" /> <meta name="citation_author" content="French MA" /> <meta name="citation_author" content="Riminton DS" /> <meta name="citation_author" content="Fulcher DA" /> <meta name="citation_author" content="Scorza R" /> <meta name="citation_author" content="D'Alfonso S" /> <meta name="citation_author" content="Doria A" /> <meta name="citation_author" content="Rúa Figueroa I" /> <meta name="citation_author" content="Cervera R" /> <meta name="citation_author" content="Vasconcelos C" /> <meta name="citation_author" content="Martins B" /> <meta name="citation_author" content="Alarcón Riquelme M" /> <meta name="citation_author" content="Vinuesa CG" /> <meta name="citation_author" content="Cook MC" /> <meta name="citation_year" content=""> <meta name="citation_volume" content="5"> <meta name="citation_issue" content="4"> <meta name="citation_abstract" content="Background: The co-existence of autoimmunity and primary antibody deficiency in some individiuals is intriguing. The transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI) gene (TNFRSF13B) has been implicated in both autoimmunity and primary antibody deficiency to varying extents in mice and humans. However, the phenotype described in mice with TNFRSF13B polymorphisms has not been entirely consistent with patients with similar orthologous polymorphisms.Objective: To further understand the relationship between TNFRSF13B variants and PAD and autoimmunity, we set out to determine the association of the two most common TNFRSF13B polymorphisms with autoimmunity and immunodeficiency, in patients with primary antibody deficiency and SLE.Method: We genotyped the C104R and A181E polymorphisms of TNFRSF13B in193 individuals and 144 controls from the Australian and New Zealand Antibody Deficiency Allele (ANZADA) Study, 107 patients from the Australian Point Mutation in Systemic Lupus Erythematosus (APOSLE) study, 169 patients with SLE from a European population, and 263 European controls. We were also able to determine TNFRSF13B genotypes for family members for nine of twelve pedigrees with primary antibody deficiency identified with TNFRSF13B variants.Results: The total number of TNFRSF13B variants in the primary antibody deficiency cohort was significantly higher than in the control group (p=0.0089; OR 9.481 [95% CI 1.218−73.81]). Similar results were obtained when patients with systemic lupus erythematosus were analysed. TNFRSF13B variants were strongly associated with SLE (p=0.0161, OR 3.316 [95% CI 1.245-8.836]). Familial analysis revealed incomplete penetrance of the TNFRSF13B variants.Conclusion: Taken together, the two most common TNFRSF13B variants are associated with primary antibody deficiency and systemic lupus erythematosus."> <meta name="citation_abstract_html_url" content="https://french.longdom.org/abstract/tnfrsf13b-variants-in-sle-and-immunodeficiency-49496.html"> <meta name="format-detection" content="telephone=no"> <meta http-equiv="Content-Language" content="fr"> <meta name="google-site-verification" content="NomPTP94YozsgvD3NEFpNqUfY88e0TU0L64zNzZTpd0" /> <meta itemprop="name" content="longdom" /> <meta http-equiv="X-UA-Compatible" content="IE=edge"> <meta name="ROBOTS" content="INDEX,FOLLOW"> <meta name="googlebot" content="INDEX,FOLLOW"> <meta name="viewport" content="width=device-width, initial-scale=1, shrink-to-fit=no"> <link rel="canonical" href="https://french.longdom.org/abstract/tnfrsf13b-variants-in-sle-and-immunodeficiency-49496.html"> <link rel="alternate" href="https://french.longdom.org/abstract/tnfrsf13b-variants-in-sle-and-immunodeficiency-49496.html" hreflang="fr-FR" />  <link rel="stylesheet" href="https://stackpath.bootstrapcdn.com/bootstrap/4.3.1/css/bootstrap.min.css"> <link href="/assets/css/longdom.css" rel="stylesheet"> <link rel="stylesheet" href="https://cdnjs.cloudflare.com/ajax/libs/animate.css/3.7.0/animate.min.css">  <link rel="stylesheet" href="https://use.fontawesome.com/releases/v5.7.1/css/all.css"> <link rel="stylesheet" href="https://maxcdn.bootstrapcdn.com/font-awesome/4.3.0/css/font-awesome.min.css">  <link href="https://fonts.googleapis.com/css?family=Montserrat:100,100i,200,200i,300,300i,400,400i,500,500i,600,600i,700,700i,800,800i,900,900i|Open+Sans:300,300i,400,400i,600,600i,700,700i,800,800i|Raleway:100,100i,200,200i,300,300i,400,400i,500,500i,600,600i,700,700i,800,800i,900,900i" rel="stylesheet"> <link href="/assets/css/ionicons.min.css" rel="stylesheet">  <link rel="stylesheet" href="/assets/css/jquery.mCustomScrollbar.min.css"> <link rel="stylesheet" href="https://cdnjs.cloudflare.com/ajax/libs/bootstrap-select/1.13.2/css/bootstrap-select.min.css">  <link rel="stylesheet" href="/assets/css/global.css">  <link rel="stylesheet" href="/assets/css/styles.css"> <link rel="stylesheet" type="text/css" href="/assets/css/author.css"> <link rel="icon" href="/assets/img/favicon.png" type="image/gif"> <link rel="stylesheet" href="/assets/css/coolautosuggest.css">  <script async src="https://www.googletagmanager.com/gtag/js?id=G-GH5GSYYKJG"></script> <script async src="https://pagead2.googlesyndication.com/pagead/js/adsbygoogle.js?client=ca-pub-8046643215361735" crossorigin="anonymous"></script> <script> window.dataLayer = window.dataLayer || []; function gtag(){dataLayer.push(arguments);} gtag('js', new Date()); gtag('config', 'G-T8DPGMD28X'); </script> </head> <body> <header>  <nav class="navbar navbar-expand-lg navbar-light bg-white shadow-sm deva541"> <div class="container"> <a class="navbar-brand" href="https://french.longdom.org/" title="Cliquez ici"> <img src="/assets/img/longdom-logo.svg" alt="Logo" height="25"> </a> <button class="navbar-toggler" type="button" data-toggle="collapse" data-target="#navbar" aria-controls="navbar" aria-expanded="false" aria-label="Toggle navigation"> <span class="navbar-toggler-icon"></span> </button> <div class="collapse navbar-collapse justify-content-end" id="navbar"> <div class="navbar-nav"> <a class="nav-item nav-link" href="https://french.longdom.org/" title="Cliquez ici">Maison</a> <a class="nav-item nav-link" href="https://french.longdom.org/open-access-journals-list.html" title="Cliquez ici">Journaux</a> <div class="nav-item dropdown"> <a class="nav-link dropdown-toggle" href="#" id="Guidelines" role="button" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">Lignes directrices et politiques</a> <div class="dropdown-menu" aria-labelledby="Cliquez ici"> <a class="dropdown-item" href="https://french.longdom.org/editorial-policies.html" title="Cliquez ici">Politiques 茅ditoriales</a> <a class="dropdown-item" href="https://french.longdom.org/instructions-to-authors.html" title="Cliquez ici">Instructions aux auteurs</a> <a class="dropdown-item" href="https://french.longdom.org/policies.html" title="Cliquez ici">Strat茅gies</a> <a class="dropdown-item" href="https://french.longdom.org/publication-ethics.html" title="Cliquez ici">脡thique 茅ditoriale</a> <a class="dropdown-item" href="https://french.longdom.org/reviewers.html" title="Cliquez ici">R茅viseurs</a> <a class="dropdown-item" href="https://french.longdom.org/terms-conditions.html" title="Cliquez ici">Termes et conditions</a> </div> </div> <a class="nav-item nav-link" href="https://french.longdom.org/advertising.html" title="Cliquez ici">Publicit茅</a> <a class="nav-item nav-link" href="https://french.longdom.org/conferences.html" title="Cliquez ici">Conf茅rences</a> <a class="nav-item nav-link" href="https://french.longdom.org/contact-us.html" title="Cliquez ici">Contactez-nous</a>  <div class="nav-item dropdown multi_lang j_multi_lang"> <a class="nav-link dropdown-toggle" href="#" id="multi_lang" role="button" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">Language</a> <div class="dropdown-menu" aria-labelledby=""> <a class="dropdown-item" href="https://www.longdom.org/abstract/tnfrsf13b-variants-in-sle-and-immunodeficiency-49496.html" title="English"> <img src="https://www.longdom.org/admin/flags/usa.png">English </a> <a class="dropdown-item" href="https://spanish.longdom.org/abstract/tnfrsf13b-variants-in-sle-and-immunodeficiency-49496.html" title="Spanish"> <img src="https://www.longdom.org/admin/flags/spain.png">Spanish </a> <a class="dropdown-item" href="https://chinese.longdom.org/abstract/tnfrsf13b-variants-in-sle-and-immunodeficiency-49496.html" title="Chinese"> <img src="https://www.longdom.org/admin/flags/china.png">Chinese </a> <a class="dropdown-item" href="https://russian.longdom.org/abstract/tnfrsf13b-variants-in-sle-and-immunodeficiency-49496.html" title="Russian"> <img src="https://www.longdom.org/admin/flags/russia.png">Russian </a> <a class="dropdown-item" href="https://german.longdom.org/abstract/tnfrsf13b-variants-in-sle-and-immunodeficiency-49496.html" title="German"> <img src="https://www.longdom.org/admin/flags/germany.png">German </a> <a class="dropdown-item" href="https://japanese.longdom.org/abstract/tnfrsf13b-variants-in-sle-and-immunodeficiency-49496.html" title="Japanese"> <img src="https://www.longdom.org/admin/flags/japan.png">Japanese </a> <a class="dropdown-item" href="https://portuguese.longdom.org/abstract/tnfrsf13b-variants-in-sle-and-immunodeficiency-49496.html" title="Portuguese"> <img src="https://www.longdom.org/admin/flags/portugal.png">Portuguese </a> <a class="dropdown-item" href="https://hindi.longdom.org/abstract/tnfrsf13b-variants-in-sle-and-immunodeficiency-49496.html" title="Hindi"> <img src="https://www.longdom.org/admin/flags/india.png">Hindi </a> <a class="dropdown-item" href="https://telugu.longdom.org/abstract/tnfrsf13b-variants-in-sle-and-immunodeficiency-49496.html" title="Telugu"> <img src="https://www.longdom.org/admin/flags/india.png">Telugu </a> <a class="dropdown-item" href="https://tamil.longdom.org/abstract/tnfrsf13b-variants-in-sle-and-immunodeficiency-49496.html" title="Tamil"> <img src="https://www.longdom.org/admin/flags/india.png">Tamil </a> </div> </div>  </div>  </div> </div> </nav> </header>  <section class="bg-info py-1"> <div class="container"> <div class="row align-items-center justify-content-between">  <div class="col-12 col-sm-auto"> <img src="https://www.longdom.org/admin/headers/Journal-of-Clinical-&-Cellular-Immunology-logo.png" alt="Journal d'immunologie clinique et cellulaire" width="105" height="105" class="img-fluid mx-auto"> </div> <div class="col-12 col-sm-8"> <h1 class="text-left text-white border-light-blue-200-before font-size-7">Journal d'immunologie clinique et cellulaire<br><small class="float-right font-size-5">Libre acc猫s</small></h1> </div>  <div class="col-12 col-sm-2 d-none d-sm-block"> <p class="lead">ISSN: 2155-9899</p>  </div> </div> </div> </section>  <nav id="sticky-navbar" class="navbar navbar-expand-lg navbar-dark bg-primary py-0"> <div class="container"> <button class="navbar-toggler" type="button" data-toggle="collapse" data-target="#jrnlNavbar" aria-controls="jrnlNavbar" aria-expanded="false" aria-label="Toggle navigation"> <span class="navbar-toggler-icon"></span> </button> <div class="collapse navbar-collapse justify-content-center" id="jrnlNavbar"> <div class="navbar-nav"> <a class="nav-item nav-link " href="https://french.longdom.org/clinical-cellular-immunology.html" title="Cliquez ici">Journal Accueil</a> <a class="nav-link " href="https://french.longdom.org/clinical-cellular-immunology/aim-and-scope.html" title="Cliquez ici">Objectif et port茅e</a> <div class="nav-item dropdown"> <a class="nav-link dropdown-toggle " title="Cliquez ici" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false" href="#">Instructions pour les auteurs <i class="fas fa-caret-down"></i></a> <div class="dropdown-menu" aria-labelledby="EditorialPanel"> <a class="dropdown-item" href="https://french.longdom.org/clinical-cellular-immunology/instructionsforauthors.html" title="Cliquez ici">Instructions pour les auteurs</a> <a class="dropdown-item" href="https://french.longdom.org/clinical-cellular-immunology/ethical-malpractices.html" title="Cliquez ici">脡thique de publication et d茅claration de faute professionnelle</a> </div> </div> <a class="nav-link " href="https://french.longdom.org/clinical-cellular-immunology/submit-manuscript.html" title="Cliquez ici">Soumettre le manuscrit</a> <a class="nav-link " href="https://french.longdom.org/clinical-cellular-immunology/archive.html" title="Cliquez ici">Archive</a> <a class="nav-link " href="https://french.longdom.org/clinical-cellular-immunology/guidelines.html" title="Cliquez ici">Des lignes directrices</a> <a class="nav-item nav-link " href="https://french.longdom.org/clinical-cellular-immunology/contact.html" title="Cliquez ici">Contact</a> </div> </div> </div> </nav> <section class="py-4 content"> <div class="container"> <div class="row"> <aside class="col-12 col-sm-3 order-last order-sm-first">  <div class="card shadow-sm sidebar mb-3" style="margin-top:10px"> <h6 class="card-header">Partagez cet article</h6> <div class="card-body"> <nav class="nav social-icons social-icons-sm"> <a class="nav-link bg-facebook white" href="https://www.facebook.com/sharer.php?u=https://french.longdom.org/abstract/tnfrsf13b-variants-in-sle-and-immunodeficiency-49496.html" target="_blank" title="Share with Facebook" rel="noopener"><i class="fab fa-facebook-f"></i></a> <a class="nav-link bg-twitter white" href="https://twitter.com/share?url=https://french.longdom.org/abstract/tnfrsf13b-variants-in-sle-and-immunodeficiency-49496.html" rel="noopener" target="_blank" title="Share with Twitter"><i class="fab fa-twitter"></i></a> <a class="nav-link bg-linkedin white" href="https://www.linkedin.com/shareArticle?mini=true&url=https://french.longdom.org/abstract/tnfrsf13b-variants-in-sle-and-immunodeficiency-49496.html" rel="noopener" target="_blank" title="Share with Linkdin"><i class="fab fa-linkedin-in"></i></a> <a class="nav-link bg-googleplus white" href="https://plus.google.com/share?url=https://french.longdom.org/abstract/tnfrsf13b-variants-in-sle-and-immunodeficiency-49496.html" target="_blank" rel="noopener" title="Share with Google+"><i class="fab fa-google-plus-g"></i></a> <a class="nav-link bg-pinterest white" href="https://pinterest.com/pin/create/button/?url=https://french.longdom.org/abstract/tnfrsf13b-variants-in-sle-and-immunodeficiency-49496.html" rel="noopener" target="_blank" title="Share with Pintrest"><i class="fab fa-pinterest-p"></i></a> <a class="nav-link bg-blogger white" href="https://www.blogger.com/blog-this.g?u=https://french.longdom.org/abstract/tnfrsf13b-variants-in-sle-and-immunodeficiency-49496.html" rel="noopener" target="_blank" title="Share with Blogger"><i class="fab fa-blogger-b"></i></a> </nav> </div> </div> <div class="card shadow-sm sidebar mb-3"> <h6 class="card-header pr-0">Index茅 dans</h6> <div class="list-group list-group-flush overflow-view"> <div class="list-group-item p-0 pt-2 pl-2"> <img src="https://www.longdom.org//admin/indexing-logos/open-j-gate-12.jpg" alt="Logo" width="50%"> </div> <div class="list-group-item p-0 pt-2 pl-2"> <img src="https://www.longdom.org//admin/indexing-logos/genamics-journalseek-15.jpg" alt="Logo" width="50%"> </div> <div class="list-group-item p-0 pt-2 pl-2"> <img src="https://www.longdom.org//admin/indexing-logos/academic-keys-16.jpg" alt="Logo" width="50%"> </div> <div class="list-group-item p-0 pt-2 pl-2"> <img src="https://www.longdom.org//admin/indexing-logos/journaltocs-17.jpg" alt="Logo" width="50%"> </div> <div class="list-group-item p-0 pt-2 pl-2"> <img src="https://www.longdom.org//admin/indexing-logos/china-national-knowledge-infrastructure-cnki-31.jpg" alt="Logo" width="50%"> </div> <div class="list-group-item p-0 pt-2 pl-2"> <img src="https://www.longdom.org//admin/indexing-logos/ulrichs-periodicals-directory-45.jpg" alt="Logo" width="50%"> </div> <div class="list-group-item p-0 pt-2 pl-2"> <img src="https://www.longdom.org//admin/indexing-logos/electronic-journals-library-47.jpg" alt="Logo" width="50%"> </div> <div class="list-group-item p-0 pt-2 pl-2"> <img src="https://www.longdom.org//admin/indexing-logos/refseek-49.jpg" alt="Logo" width="50%"> </div> <div class="list-group-item p-0 pt-2 pl-2"> <img src="https://www.longdom.org//admin/indexing-logos/hamdard-university-57.jpg" alt="Logo" width="50%"> </div> <div class="list-group-item p-0 pt-2 pl-2"> <img src="https://www.longdom.org//admin/indexing-logos/ebsco-az-58.jpg" alt="Logo" width="50%"> </div> <div class="list-group-item p-0 pt-2 pl-2"> <img src="https://www.longdom.org//admin/indexing-logos/oclc-worldcat-75.jpg" alt="Logo" width="50%"> </div> <div class="list-group-item p-0 pt-2 pl-2"> <img src="https://www.longdom.org//admin/indexing-logos/swb-online-catalog-79.png" alt="Logo" width="50%"> </div> <div class="list-group-item p-0 pt-2 pl-2"> <img src="https://www.longdom.org//admin/indexing-logos/virtual-library-of-biology-vifabio-82.png" alt="Logo" width="50%"> </div> <div class="list-group-item p-0 pt-2 pl-2"> <img src="https://www.longdom.org//admin/indexing-logos/publons-84.png" alt="Logo" width="50%"> </div> <div class="list-group-item p-0 pt-2 pl-2"> <img src="https://www.longdom.org//admin/indexing-logos/geneva-foundation-for-medical-education-and-research-93.jpg" alt="Logo" width="50%"> </div> <div class="list-group-item p-0 pt-2 pl-2"> <img src="https://www.longdom.org//admin/indexing-logos/google-scholar-124.jpg" alt="Logo" width="50%"> </div> </div> <p class="m-0 clearfix"><a href="https://french.longdom.org/clinical-cellular-immunology/indexing.html" title="Cliquez ici"><span class="btn btn-warning btn-xs float-right">Voir plus »</span></a></p> </div>   <div class="card shadow-sm sidebar mb-3"> <h6 class="card-header">Liens utiles</h6> <div class="card-body p-0"> <nav class="nav flex-column font-size-3 icon-list icon-list-angle-right a-py-1"> <a class="nav-item nav-link" href="https://french.longdom.org/clinical-cellular-immunology/aim-and-scope.html" title="Cliquez ici">Objectif et port茅e</a> <a class="nav-item nav-link" href="https://french.longdom.org/clinical-cellular-immunology/peer-review-process.html" title="Cliquez ici">Processus d'examen par les pairs</a> <a class="nav-item nav-link" href="https://french.longdom.org/clinical-cellular-immunology/indexing.html" title="Cliquez ici">Indexation et archivage</a> <a class="nav-item nav-link" href="https://french.longdom.org/clinical-cellular-immunology/archive.html" title="Cliquez ici">Indexation et archivage</a> <a class="nav-item nav-link" href="https://www.longdom.org/submissions/clinical-cellular-immunology.html" title="Cliquez ici">Soumettre le manuscrit</a> </nav> </div> </div>     <div class="card shadow-sm sidebar mb-3"> <h6 class="card-header">Revues en libre acc猫s</h6> <div class="card-body p-0 scroll_mang"> <nav class="nav flex-column font-size-3 icon-list icon-list-angle-right a-py-1"> <a class="nav-item nav-link" href="https://french.longdom.org/agri-and-aquaculture-journals.html" title="Cliquez ici">Agriculture et aquaculture</a><br> <a class="nav-item nav-link" href="https://french.longdom.org/food-and-nutrition-journals.html" title="Cliquez ici">Alimentation et nutrition</a><br> <a class="nav-item nav-link" href="https://french.longdom.org/biochemistry-journals.html" title="Cliquez ici">Biochimie</a><br> <a class="nav-item nav-link" href="https://french.longdom.org/bioinformatics-and-systems-biology-journals.html" title="Cliquez ici">Bioinformatique et biologie des syst猫mes</a><br> <a class="nav-item nav-link" href="https://french.longdom.org/business-and-management-journals.html" title="Cliquez ici">Business & Management</a><br> <a class="nav-item nav-link" href="https://french.longdom.org/chemistry-journals.html" title="Cliquez ici">Chimie</a><br> <a class="nav-item nav-link" href="https://french.longdom.org/genetics-and-molecular-biology-journals.html" title="Cliquez ici">G茅n茅tique et biologie mol茅culaire</a><br> <a class="nav-item nav-link" href="https://french.longdom.org/immunology-and-microbiology-journals.html" title="Cliquez ici">Immunologie & Microbiologie</a><br> <a class="nav-item nav-link" href="https://french.longdom.org/engineering-journals.html" title="Cliquez ici">Ing茅nierie</a><br> <a class="nav-item nav-link" href="https://french.longdom.org/neuroscience-and-psychology-journals.html" title="Cliquez ici">Neurosciences & Psychologie</a><br> <a class="nav-item nav-link" href="https://french.longdom.org/general-science-journals.html" title="Cliquez ici">Science g茅n茅rale</a><br> <a class="nav-item nav-link" href="https://french.longdom.org/clinical-sciences-journals.html" title="Cliquez ici">Sciences cliniques</a><br> <a class="nav-item nav-link" href="https://french.longdom.org/medical-sciences-journals.html" title="Cliquez ici">Sciences m茅dicales</a><br> <a class="nav-item nav-link" href="https://french.longdom.org/pharmaceutical-sciences-journals.html" title="Cliquez ici">Sciences pharmaceutiques</a><br> <a class="nav-item nav-link" href="https://french.longdom.org/nursing-and-health-care-journals.html" title="Cliquez ici">Soins infirmiers et soins de sant茅</a><br> </nav> </div> </div>  </aside> <div class="col-12 col-sm-9"> <h2 class="heading-1">Abstrait</h2> <h3 class="">TNFRSF13B Variants in SLE and Immunodeficiency</h3> <p> <i class="fas fa-user"></i> Chew GYJ, Gatenby PA, Mercan S, De Malmanche T, Adelstein S, Garsia R, Hissaria P, French MA, Riminton DS, Fulcher DA, Scorza R, D'Alfonso S, Doria A, Rúa Figueroa I, Cervera R, Vasconcelos C, Martins B, Alarcón Riquelme M, Vinuesa CG and Cook MC </p> <p><strong>Background:</strong> The co-existence of autoimmunity and primary antibody deficiency in some individiuals is intriguing. The transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI) gene (TNFRSF13B) has been implicated in both autoimmunity and primary antibody deficiency to varying extents in mice and humans. However, the phenotype described in mice with TNFRSF13B polymorphisms has not been entirely consistent with patients with similar orthologous polymorphisms.<br /><strong>Objective:</strong> To further understand the relationship between TNFRSF13B variants and PAD and autoimmunity, we set out to determine the association of the two most common TNFRSF13B polymorphisms with autoimmunity and immunodeficiency, in patients with primary antibody deficiency and SLE.<br /><strong>Method: </strong>We genotyped the C104R and A181E polymorphisms of TNFRSF13B in193 individuals and 144 controls from the Australian and New Zealand Antibody Deficiency Allele (ANZADA) Study, 107 patients from the Australian Point Mutation in Systemic Lupus Erythematosus (APOSLE) study, 169 patients with SLE from a European population, and 263 European controls. We were also able to determine TNFRSF13B genotypes for family members for nine of twelve pedigrees with primary antibody deficiency identified with TNFRSF13B variants.<br /><strong>Results:</strong> The total number of TNFRSF13B variants in the primary antibody deficiency cohort was significantly higher than in the control group (p=0.0089; OR 9.481 [95% CI 1.218−73.81]). Similar results were obtained when patients with systemic lupus erythematosus were analysed. TNFRSF13B variants were strongly associated with SLE (p=0.0161, OR 3.316 [95% CI 1.245-8.836]). Familial analysis revealed incomplete penetrance of the TNFRSF13B variants.<br /><strong>Conclusion:</strong> Taken together, the two most common TNFRSF13B variants are associated with primary antibody deficiency and systemic lupus erythematosus.</p> <div class="alert alert-info text-left"><b>Clause de non-responsabilit茅:</b> Ce r茅sum茅 a 茅t茅 traduit 脿 l'aide d'outils d'intelligence artificielle et n'a pas encore 茅t茅 r茅vis茅 ou v茅rifi茅.</div> <div class="nav social-icons"> <a class="nav-link w-auto">Partagez cet article</a> <a title="Cliquez ici" target="_blank" href="https://www.facebook.com/sharer.php?u=https://french.longdom.org/abstract/tnfrsf13b-variants-in-sle-and-immunodeficiency-49496.html" rel="noopener"><i class="fab fa-facebook-f"></i></a> <a class="nav-link" title="Cliquez ici" target="_blank" href="https://twitter.com/share?url=https://french.longdom.org/abstract/tnfrsf13b-variants-in-sle-and-immunodeficiency-49496.html" rel="noopener"><i class="fab fa-twitter"></i></a> <a class="nav-link" title="Cliquez ici" target="_blank" href="https://www.linkedin.com/shareArticle?mini=true&url=https://french.longdom.org/abstract/tnfrsf13b-variants-in-sle-and-immunodeficiency-49496.html" rel="noopener"><i class="fab fa-linkedin-in"></i></a> <a class="nav-link" title="Cliquez ici" target="_blank" href="https://plus.google.com/share?url=https://french.longdom.org/abstract/tnfrsf13b-variants-in-sle-and-immunodeficiency-49496.html" rel="noopener"><i class="fab fa-google-plus-g"></i></a> </div> </div> </div> </div> </section> <footer class="bg-blue-grey-900 py-3"> <div class="container"> <div class="row"> <div class="col-12 col-sm-4"> <h4 class="white font-size-4 fweight-400 border-bottom-1 pb-2">Liens de contenu</h4> <ul class="list-unstyled footer-links font-size-3"> <li><a class="" href="https://french.longdom.org/privacy-policy.html" title="Cliquez ici">politique de confidentialit茅</a></li> <li><a class="" href="https://french.longdom.org/terms-conditions.html" title="Cliquez ici">termes et conditions</a></li> <li><a class="" href="https://french.longdom.org/authors-reviewers-editors.html" title="Cliquez ici">Auteurs, critiques et 茅diteur</a></li> </ul> </div> <div class="col-12 col-sm-4"> <h4 class="white font-size-4 fweight-400 border-bottom-1 pb-2">Contacter Longdom</h4> <p><strong>Groupe Longdom SA</strong><br /> Avenue Roger Vandendriessche,<br /> 18, 1150 Bruxelles, Belgique<br /> T茅l茅phone : +442038085340<br /> <strong>Courriel :</strong> <a class="white" href="mailto:info@longdom.org" title="Cliquez ici">info@longdom.org</a></p> </div> <div class="col-12 col-sm-4"> <h4 class="white font-size-4 fweight-400 border-bottom-1 pb-2">Connecter</h4> <nav class="nav nav-pills social-icons-footer flex-column a-pl-0"> <a href="https://www.facebook.com/longdompublisher" title="Cliquez ici" target="_blank" class="nav-link bg-facebook-hover"><i class="fab fa-facebook-f bg-facebook"></i></a> <a href="https://www.linkedin.com/company/longdom-publishing-sl/" title="Cliquez ici" target="_blank" class="nav-link bg-linkedin-hover"><i class="fab fa-linkedin-in bg-linkedin"></i></a> <a href="https://twitter.com/LongdomP" title="Cliquez ici" target="_blank" class="nav-link bg-twitter-hover"><i class="fab fa-twitter bg-twitter"></i></a> <a href="https://www.instagram.com/longdom_publisher/" title="Cliquez ici" target="_blank" class="nav-link bg-instagram-hover"><i class="fab fa-instagram bg-instagram"></i></a> </nav> </div> </div> <div class="row text-center"> <div class="col"> <p>droits d auteur © 2024 <a href="https://french.longdom.org/" title="Cliquez ici" class="white">Longdom 脡ditions SL</a>.</p> </div> </div> </div> </footer>  <a href="#0" class="cd-top js-cd-top">Top</a>   <script src="https://code.jquery.com/jquery-3.3.1.min.js"></script> <script src="https://cdnjs.cloudflare.com/ajax/libs/popper.js/1.14.7/umd/popper.min.js"></script> <script src="https://stackpath.bootstrapcdn.com/bootstrap/4.3.1/js/bootstrap.min.js"></script>  <script> jQuery(function($) { $(window).scroll(function fix_element() { $('#target').css( $(window).scrollTop() > 100 ? { 'position': 'fixed', 'top': '440px' } : { 'position': 'absolute', 'top': '440px' } ); return fix_element; }()); }); </script>   <script src="https://unpkg.com/feather-icons"></script> <script> feather.replace() </script>  <script src="/assets/js/scroll-to-top.js"></script>  <script type="text/javascript" src="/assets/js/coolautosuggest.js"></script> <script language="javascript" type="text/javascript"> $("#keyword").coolautosuggest({ url: "https://french.longdom.org/author-names.php?chars=", minChars: 3, }); </script> <script src="/assets/js/jquery.mCustomScrollbar.concat.min.js"></script> <script> // Scrollbar var Scrollbar = function() { "use strict"; // Handle Scrollbar Linear var handleScrollbarLinear = function() { $(".scrollbar").mCustomScrollbar({ theme: "minimal-dark" }); } return { init: function() { handleScrollbarLinear(); // initial setup for scrollbar linear } } }(); $(document).ready(function() { Scrollbar.init(); }); /*========================== Stikcy Navbar ============================*/ window.onscroll = function() { myFunction() }; var navbar = document.getElementById("sticky-navbar"); var sticky = navbar.offsetTop; function myFunction() { if (window.pageYOffset >= sticky) { navbar.classList.add("sticky") } else { navbar.classList.remove("sticky"); } } /*========================== Bootstrap Popover ============================*/ $(function () { $('[data-toggle="popover"]').popover() }) </script>  <script src="/assets/js/jquery.malihu.PageScroll2id.min.js"></script> <script> (function($){ $(window).on("load",function(){ $("a[rel='m_PageScroll2id']").mPageScroll2id(); }); })(jQuery); </script>  <script type="text/javascript" src="/assets/js/jquery.matchHeight-min.js"></script> <script> $(function() { $('.match-height').matchHeight({ byRow: true, property: 'height', target: null, }); }); </script> <script type="text/javascript" src="/assets/js/grids.min.js"></script> <script type="text/javascript"> // Equal Height var EqualHeight = function() { "use strict"; // Handle Equal Height var handleEqualHeight = function() { $(function($) { $('.equal-height').responsiveEqualHeightGrid(); }); } return { init: function() { handleEqualHeight(); // initial setup for equal height } } }(); $(document).ready(function() { EqualHeight.init(); }); </script>  <script src="https://cdnjs.cloudflare.com/ajax/libs/bootstrap-select/1.13.2/js/bootstrap-select.min.js"></script> <script> $('.selectpicker').selectpicker(); </script> <script> $(document).ready(function(){ var filecount = 1; $('.filerowclass').each(function(){ var countattr = $(this).attr('countattr'); if(filecount == countattr){ var countlink = $('#rowfile'+countattr+ ' .filelinkclass').length; if(countlink == 0){ $('#rowfile'+countattr).remove(); } } filecount++; }); }); </script> <script type="text/javascript">function add_chatinline(){var hccid=16077791;var nt=document.createElement("script");nt.async=true;nt.src="https://mylivechat.com/chatinline.aspx?hccid="+hccid;var ct=document.getElementsByTagName("script")[0];ct.parentNode.insertBefore(nt,ct);} add_chatinline(); </script><link href="https://cdn.jsdelivr.net/npm/select2@4.1.0-rc.0/dist/css/select2.min.css" rel="stylesheet" /> <script src="https://cdn.jsdelivr.net/npm/select2@4.1.0-rc.0/dist/js/select2.min.js"></script> </body> </html>