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

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

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)...

Full description

Bibliographic Details
Main Authors: Lucila A. Barreiros, Gesmar R. S. Segundo, Anete S. Grumach, Pérsio Roxo-Júnior, Troy R. Torgerson, Hans D. Ochs, Antonio Condino-Neto
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-08-01
Series:Frontiers in Pediatrics
Subjects:
primary immunodeficiency
severe combined immunodeficiency
SCID
JAK3
newborn screening
Online Access:https://www.frontiersin.org/article/10.3389/fped.2018.00230/full

Internet

https://www.frontiersin.org/article/10.3389/fped.2018.00230/full

Similar Items