The genetic landscape of severe combined immunodeficiency in the United States and Canada in the current era (2010-2018)

美国和加拿大当前（2010-2018 年）重症联合免疫缺陷的遗传图谱

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作者：Dvorak,Christopher C,Haddad,Elie,Buckley,Rebecca H,Cowan,Morton J,Logan,Brent,Griffith,Linda M,Kohn,Donald B,Pai,Sung-Yun,Notarangelo,Luigi,Shearer,William,Prockop,Susan,Kapoor,Neena,Heimall,Jennifer,Chaudhury,Sonali,Shyr,David,Chandra,Sharat,Cuvelier,Geoff,Moore,Theodore,Shenoy,Shalini,Goldman,Fred,Smith,Angela R,Sunkersett,Gauri,Vander Lugt,Mark,Caywood,Emi,Quigg,Troy,Torgerson,Troy,Chandrakasan,Shanmuganathan,Craddock,John,Dávila Saldaña,Blachy J,Gillio,Alfred,Shereck,Evan,Aquino,Victor,DeSantes,Kenneth,Knutsen,Alan,Thakar,Monica,Yu,Lolie,Puck,Jennifer M
期刊：Journal of Allergy and Clinical Immunology影响因子：11.200
时间：2019起止号：2019 Jan;143(1):405-407
doi：10.1016/j.jaci.2018.08.027研究方向： 免疫/内分泌

Abstract

In a 250 patient cohort from the US and Canada in the current era (2010–2018), we show that over 90% of patients with severe combined immunodeficiency (SCID) can be genetically-characterized.

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