Novel IL2RG Gene Mutation in One of Dizygotic Twins Causing Profound Changes of Receptor Structure

• Main Authors: Magdalena Rutkowska-Zapała (Author), Anna Szaflarska (Author), Anna Kluczewska (Author), Julia Ciȩciwa (Author), Jacek Plewka (Author), Anna Michalska (Author), Maciej Siedlar (Author)
• Format: Book
• Published: Frontiers Media S.A., 2022-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

In this study, we report a 4-month-old boy with T−B+NK− severe combined immunodeficiency (SCID) due to a novel mutation in exon 2 of IL2RG, the gene encoding the interleukin (IL) common gamma chain (γc) of the cytokine receptors for IL-2, IL-4, IL-7, IL-9, IL-15, and IL-21. The patient was born from...