Excellent Outcome with Early Diagnosis in an Infant with Wiskott-Aldrich Syndrome in a Tertiary Hospital in Oman

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Diagnosis in an Infant with Wiskott-Aldrich Syndrome in a Tertiary Hospital in Oman</title> <meta name="description" content="Excellent Outcome with Early Diagnosis in an Infant with Wiskott-Aldrich Syndrome in a Tertiary Hospital in Oman"> <meta name="keywords" content="genetic diagnosis, hematopoietic stem cell transplant, infant, Wiskott-Aldrich syndrome"> <meta name="viewport" content="width=device-width, initial-scale=1, minimum-scale=1, maximum-scale=1, user-scalable=no"> <meta charset="utf-8"> <link href="https://cdn.waset.org/favicon.ico" type="image/x-icon" rel="shortcut icon"> <link href="https://cdn.waset.org/static/plugins/bootstrap-4.2.1/css/bootstrap.min.css" rel="stylesheet"> <link href="https://cdn.waset.org/static/plugins/fontawesome/css/all.min.css" rel="stylesheet"> <link href="https://cdn.waset.org/static/css/site.css?v=150220211555" rel="stylesheet"> </head> <body> <header> <div class="container"> <nav class="navbar navbar-expand-lg navbar-light"> <a 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87408</div> </div> </div> </div> <div class="card publication-listing mt-3 mb-3"> <h5 class="card-header" style="font-size:.9rem">Excellent Outcome with Early Diagnosis in an Infant with Wiskott-Aldrich Syndrome in a Tertiary Hospital in Oman</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Surekha%20Tony">Surekha Tony</a>, <a href="https://publications.waset.org/abstracts/search?q=Roshan%20Mevada"> Roshan Mevada</a> </p> <p class="card-text"><strong>Abstract:</strong></p> Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease resulting in recurrent infections, eczema, and microthrombocytopenia. In its classical form, significant combined immune deficiency, autoimmune complications, and risk of hematological malignancy necessitate early correction, preferably before 2 years of age, with hematopoietic stem cell transplant (HSCT) or gene therapy. Clinical features and severity are varied, making the diagnosis difficult in milder cases. We report an Omani boy diagnosed in early infancy with WAS based on clinical presentation and confirmed by genetic diagnosis with cure by HSCT from an HLA-identical sibling donor. <iframe src="https://publications.waset.org/abstracts/188928.pdf" style="width:100%; height:400px;" frameborder="0"></iframe> <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=genetic%20diagnosis" title="genetic diagnosis">genetic diagnosis</a>, <a href="https://publications.waset.org/abstracts/search?q=hematopoietic%20stem%20cell%20transplant" title=" hematopoietic stem cell transplant"> hematopoietic stem cell transplant</a>, <a href="https://publications.waset.org/abstracts/search?q=infant" title=" infant"> infant</a>, <a href="https://publications.waset.org/abstracts/search?q=Wiskott-Aldrich%20syndrome" title=" Wiskott-Aldrich syndrome"> Wiskott-Aldrich syndrome</a> </p> <a href="https://publications.waset.org/abstracts/188928/excellent-outcome-with-early-diagnosis-in-an-infant-with-wiskott-aldrich-syndrome-in-a-tertiary-hospital-in-oman" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/188928.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">18</span> </span> </div> </div> </div> </main> <footer> <div id="infolinks" class="pt-3 pb-2"> <div class="container"> <div style="background-color:#f5f5f5;" class="p-3"> <div class="row"> <div class="col-md-2"> <ul class="list-unstyled"> About <li><a href="https://waset.org/page/support">About Us</a></li> <li><a href="https://waset.org/page/support#legal-information">Legal</a></li> <li><a target="_blank" rel="nofollow" href="https://publications.waset.org/static/files/WASET-16th-foundational-anniversary.pdf">WASET celebrates its 16th foundational 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Excellent Outcome with Early Diagnosis in an Infant with Wiskott-Aldrich Syndrome in a Tertiary Hospital in Oman