In vivo reversion of an inherited mutation in a Chinese patient with Wiskott–Aldrich syndrome
JW Xie, ZY Zhang, JF Wu, DW Liu, W Liu, Y Zhao… - Human Immunology, 2015 - Elsevier
A spontaneous reversion that restores Wiskott–Aldrich syndrome protein (WASP) expression
was reported recently. However, the genetic mechanism underlying the reversion event was
unclear. In the present study, a WAS patient with a nonsense mutation (155 C> T, R41X)
was followed during a three-year period. No expression of WASP was detected in peripheral
blood mononucleated cells (PBMCs) in 2009 and a small population of intracellular WASP
positive lymphocytes was detected during the following three years. The increasing trend of …
was reported recently. However, the genetic mechanism underlying the reversion event was
unclear. In the present study, a WAS patient with a nonsense mutation (155 C> T, R41X)
was followed during a three-year period. No expression of WASP was detected in peripheral
blood mononucleated cells (PBMCs) in 2009 and a small population of intracellular WASP
positive lymphocytes was detected during the following three years. The increasing trend of …