Two Unique Cases of X-linked SCID: A Diagnostic Challenge in the Era of Newborn Screening

• Main Authors: Pooja Purswani (Author), Cristina Adelia Meehan (Author), Hye Sun Kuehn (Author), Yenhui Chang (Author), Joseph F. Dasso (Author), Anna K. Meyer (Author), Boglarka Ujhazi (Author), Krisztian Csomos (Author), David Lindsay (Author), Taylor Alberdi (Author), Sonia Joychan (Author), Jessica Trotter (Author), Carla Duff (Author), Maryssa Ellison (Author), Jack Bleesing (Author), Attila Kumanovics (Author), Anne M. Comeau (Author), Jaime E. Hale (Author), Luigi D. Notarangelo (Author), Troy R. Torgersen (Author), Hans D. Ochs (Author), Panida Sriaroon (Author), Benjamin Oshrine (Author), Aleksandra Petrovic (Author), Sergio D. Rosenzweig (Author), Jennifer W. Leiding (Author), Jolan E. Walter (Author)
• Format: Book
• Published: Frontiers Media S.A., 2019-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

In the era of newborn screening (NBS) for severe combined immunodeficiency (SCID) and the possibility of gene therapy (GT), it is important to link SCID phenotype to the underlying genetic disease. In western countries, X-linked interleukin 2 receptor gamma chain (IL2RG) and adenosine deaminase (ADA...