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Molecular Diagnosis of Inherited Immune Disorders
Affiliation:1. Division of Rheumatology, Allergy and Immunology, Massachusetts General Hospital, Boston, MA, USA;2. Ragon Institute of MGH, MIT and Harvard, Cambridge, MA, USA;3. Center for Advanced Molecular Diagnostics, Brigham and Women’s Hospital, Boston, MA, USA;1. Department of Physiology, Sanders-Brown Center on Aging, University of Kentucky College of Medicine, 800 South Limestone Street, Lexington, KY 40536-0230, USA;2. Department of Neurology, Sanders-Brown Center on Aging, University of Kentucky College of Medicine, 800 South Limestone Street, Lexington, KY 40536-0230, USA;1. Ragon Institute of MGH, MIT and Harvard, Cambridge, MA, USA;2. Division of Rheumatology, Faculty of Medicine and Health Sciences, Université de Sherbrooke;3. Centre de Recherche Clinique du Centre Hospitalier Universitaire de Sherbrooke, Sherbrooke, Québec, Canada;4. Division of Rheumatology, Centre intégré universitaire de santé et de service sociaux de l’Estrie – Centre hospitalier universitaire de Sherbrooke (CIUSSS de l’Estrie-CHUS), 3001, 12th Avenue North, Room 3853, Sherbrooke, Québec J1H 5N4, Canada
Abstract:
Keywords:Molecular diagnostics  Primary immunodeficiency  Newborn screening  TREC assay  Next-generation sequencing  Exome sequencing  Severe combined immune deficiency (SCID)  Common variable immune deficiency (CVID)
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