title: In vivo reversion of an inherited mutation in a Chinese patient with Wiskott-Aldrich syndrome.
abstract: 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 the revertant genotype was significant. WASP-expressing cells were present mainly CD56+ NK cells and CD8+ T cells. Sorted WASP+ cells were analyzed, indicating that the population of CD3+ T cells increased from 36.81% to 99.8%. Although the revertant cells in vivo may have a growth advantage, the patient presented a persistent autoimmune disease, thrombocytopenia, and died from extensive pulmonary fibrosis. The results suggest that the clinical consequences of T-cell mosaicism in WAS remain difficult to predict and is not sufficient to fully normalize immune functions in patients with WAS.
authors: Division of Immunology, Children's Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, Key Laboratory of Pediatrics in Chongqing, Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, China.
authors: Jing-Wen
authors: JW
authors: Xie
authors: Division of Immunology, Children's Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, Key Laboratory of Pediatrics in Chongqing, Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, China.
authors: Zhi-Yong
authors: ZY
authors: Zhang
authors: Division of Immunology, Children's Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, Key Laboratory of Pediatrics in Chongqing, Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, China.
authors: Jun-Feng
authors: JF
authors: Wu
authors: Division of Immunology, Children's Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, Key Laboratory of Pediatrics in Chongqing, Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, China.
authors: Da-Wei
authors: DW
authors: Liu
authors: Division of Immunology, Children's Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, Key Laboratory of Pediatrics in Chongqing, Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, China.
authors: Wei
authors: W
authors: Liu
authors: Division of Immunology, Children's Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, Key Laboratory of Pediatrics in Chongqing, Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, China.
authors: Yao
authors: Y
authors: Zhao
authors: Division of Immunology, Children's Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, Key Laboratory of Pediatrics in Chongqing, Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, China.
authors: Li-Ping
authors: LP
authors: Jiang
authors: Division of Immunology, Children's Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, Key Laboratory of Pediatrics in Chongqing, Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, China.
authors: Xue-Mei
authors: XM
authors: Tang
authors: Division of Immunology, Children's Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, Key Laboratory of Pediatrics in Chongqing, Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, China.
authors: Mo
authors: M
authors: Wang
authors: Division of Immunology, Children's Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, Key Laboratory of Pediatrics in Chongqing, Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, China. Electronic address: zhaoxd530@aliyun.com.
authors: Xiao-Dong
authors: XD
authors: Zhao
mesh_terms: D000293:Adolescent; D044466:Asian People; D001483:Base Sequence; D018414:CD8-Positive T-Lymphocytes / Q000276:immunology / Q000473:pathology; D017809:Fatal Outcome; D015870:Gene Expression; D006801:Humans; D007694:Killer Cells, Natural / Q000276:immunology / Q000473:pathology; D008297:Male; D008969:Molecular Sequence Data; D009030:Mosaicism; D011658:Pulmonary Fibrosis / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D013921:Thrombocytopenia / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D014923:Wiskott-Aldrich Syndrome / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D051316:Wiskott-Aldrich Syndrome Protein / Q000235:genetics* / Q000276:immunology
chemical_list: C495767:WAS protein, human; D051316:Wiskott-Aldrich Syndrome Protein
keywords: Flow cytometry; Mutation; Reversion; Wiskott–Aldrich syndrome