A Novel Homozygous JAK3 Mutation Leading to T-B+NK- SCID in Two Brazilian Patients

• Main Authors: Lucila A. Barreiros (Author), Gesmar R. S. Segundo (Author), Anete S. Grumach (Author), Pérsio Roxo-Júnior (Author), Troy R. Torgerson (Author), Hans D. Ochs (Author), Antonio Condino-Neto (Author)
• Format: Book
• Published: Frontiers Media S.A., 2018-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

We report a novel homozygous JAK3 mutation in two female Brazilian SCID infants from two unrelated kindreds. Patient 1 was referred at 2 months of age due to a family history of immunodeficiency and the appearance of a facial rash. The infant was screened for TRECs (T-cell receptor excision circles)...