The genetic landscape of severe combined immunodeficiency in the United States and Canada in the current era (2010-2018)
Christopher C Dvorak, Elie Haddad, Rebecca H Buckley, Morton J Cowan, Brent Logan, Linda M Griffith, Donald B Kohn, Sung-Yun Pai, Luigi Notarangelo, William Shearer, Susan Prockop, Neena Kapoor, Jennifer Heimall, Sonali Chaudhury, David Shyr, Sharat Chandra, Geoff Cuvelier, Theodore Moore, Shalini Shenoy, Fred Goldman, Angela R Smith, Gauri Sunkersett, Mark Vander Lugt, Emi Caywood, Troy Quigg, Troy Torgerson, Shanmuganathan Chandrakasan, John Craddock, Blachy J Dávila Saldaña, Alfred Gillio, Evan Shereck, Victor Aquino, Kenneth DeSantes, Alan Knutsen, Monica Thakar, Lolie Yu, Jennifer M Puck, Christopher C Dvorak, Elie Haddad, Rebecca H Buckley, Morton J Cowan, Brent Logan, Linda M Griffith, Donald B Kohn, Sung-Yun Pai, Luigi Notarangelo, William Shearer, Susan Prockop, Neena Kapoor, Jennifer Heimall, Sonali Chaudhury, David Shyr, Sharat Chandra, Geoff Cuvelier, Theodore Moore, Shalini Shenoy, Fred Goldman, Angela R Smith, Gauri Sunkersett, Mark Vander Lugt, Emi Caywood, Troy Quigg, Troy Torgerson, Shanmuganathan Chandrakasan, John Craddock, Blachy J Dávila Saldaña, Alfred Gillio, Evan Shereck, Victor Aquino, Kenneth DeSantes, Alan Knutsen, Monica Thakar, Lolie Yu, Jennifer M Puck
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.
Conflict of interest statement
Declarations of interest:
Dr. Puck reports that J Puck’s spouse is employed by and holds stock in Invitae, a genetic diagnosis company.
All other authors: None
Source: PubMed