Asymptomatic Infant With Atypical SCID and Novel Hypomorphic RAG Variant Identified by Newborn Screening: A Diagnostic and Treatment Dilemma

di Chitty-Lopez, Maria, Westermann-Clark, Emma, Dawson, Irina, Ujhazi, Boglarka, Csomos, Krisztian, Dobbs, Kerry, Le, Khuong, Yamazaki, Yasuhiro, Sadighi Akha, Amir A., Chellapandian, Deepak, Oshrine, Ben, Notarangelo, Luigi D., Sunkersett, Gauri, Leiding, Jennifer W., Walter, Jolan E.
Pubblicato in Front Immunol (2020)

The Genetic Landscape of SCID in the US and Canada in the Current Era (2010–2018)

di 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, Lugt, Mark Vander, Caywood, Emi, DO, Troy Quigg, Torgerson, Troy, Chandrakasan, Shan, Craddock, John, Dávila Saldaña, Blachy J., Gillio, Alfred, Shereck, Evan, Aquino, Victor, DeSantes, Kenneth, Knutsen, Alan, Thakar, Monica, Yu, Lolie, Puck, Jennifer M.
Pubblicato in J Allergy Clin Immunol (2018)