Piloting an automated query and scoring system to facilitate APDS patient identification from health systems by Amy M. FitzPatrick, Aaron T. Chin, Sharon Nirenberg, Charlotte Cunningham-Rundles, Keith Sacco, Jesse Perlmutter, Joseph F. Dasso, Athanasios Tsalatsanis, Jay Maru, Jessica Creech, Jolan E. Walter, Nicholas Hartog, Neema Izadi, Mandy Palmucci, Manish J. Butte, Klaus Loewy, Anurag Relan, Nicholas L. Rider

Get full text

Case Report: A novel CXCR4 variant (p.S341Y) in a family with a pathogenic NFKB1 variant and variable clinical manifestations by Melis Yilmaz, Katarina Zmajkovicova, Rahim Z. Miller, Rahim Z. Miller, Grace Blair, Maryssa Ellison, Boglarka Ujhazi, Maria Chitty Lopez, Maria Chitty Lopez, Joseph F. Dasso, Jacob R. Bledsoe, Krisztian Csomos, Barbara Maierhofer, Adriana Badarau, Joao P. Pereira, Henry Kanarek, Christoph B. Geier, Christoph B. Geier, Jolan E. Walter, Jolan E. Walter

Get full text