When viewing this topic in a different language, you may notice some differences in the way the content is structured, but it still reflects the latest evidence-based guidance.

Wiskott-Aldrich 综合征

最后审阅: 12 Nov 2024
最后更新: 12 Apr 2022

小结

定义

病史和体格检查

关键诊断因素

  • WAS 家族史
  • 容易擦伤和瘀点
完整详情

其他诊断因素

  • 复发性感染
  • 湿疹
  • 擦伤和瘀点
  • 淋巴结肿大
  • 鼓膜穿孔
  • 严重出血
  • 严重/危及生命的感染
  • 自身免疫
完整详情

危险因素

  • 母系 WAS 基因突变携带者
  • 男性
完整详情

诊断性检查

首要检查

  • 全血细胞计数包括血小板体积
  • WAS 蛋白 (WASp) 分析
  • WAS蛋白(WASP)基因突变分析
完整详情

需考虑的检查

  • 免疫球蛋白水平
  • 对疫苗的反应
  • 异体血细胞凝集素
  • 淋巴细胞分类
  • T 细胞增殖检测
  • 肝功能检查
  • 针对丙型肝炎的聚合酶链反应分析
  • 针对腺病毒、EB 病毒和巨细胞病毒的聚合酶链反应检测
  • 存储本底血清和血浆
完整详情

治疗流程

持续性治疗

轻症WAS

典型的重症 WAS

撰稿人

作者

Siobhan Burns, MB BAO BCh, MRCPI (Paeds)
Siobhan Burns

Reader and Consultant in Immunology

University College London

Department of Immunology

Royal Free Hospital

London

UK

利益声明

SB has received travel expenses for educational conferences from Baxalta US Inc. and CSL Behring. SB has received a consulting fee from CSL Behring for a talk given about the use of subcutaneous immunoglobulin. SB has received grant funding for research into immunoglobulin treatment for primary immunodeficiency from CSL Behring. SB is the author of articles cited in this topic.

Adrian Thrasher, PhD, MD, BS, FRCP, MRCPCH, FMedSci
Adrian Thrasher

Professor of Paediatric Immunology

Molecular Immunology Unit and Centre for Immunodeficiency

Institute of Child Health

University College London

London

UK

利益声明

AT has done consultancy work for Orchard Therapeutics and Autolus, and owns stock in both. AT was an expert witness for Ward Hadaway Solicitors for a case of Wiskott-Aldrich syndrome. He is an author of references cited in this topic.

同行评议者

Phil Fischer, MD

Professor of Pediatrics

Mayo Clinic

Rochester

MN

利益声明

PF declares that he has no competing interests.

Deepak Kamat, MD, PhD

Professor of Pediatrics

Wayne State University

Vice Chair of Education

Director

Institute of Medical Education

The Carman and Ann Adams Department of Pediatrics

Children's Hospital of Michigan

Detroit

MI

利益声明

DK declares that he has no competing interests.

  • Wiskott-Aldrich 综合征 images
  • 鉴别诊断

    • 特发性血小板减少症(ITP)
    • 自身免疫性淋巴细胞增生综合征(ALPS)
    更多 鉴别诊断
  • 指南

    • 适用于中度或重度免疫功能低下人群的 COVID-19 疫苗
    • EBMT/ESID 先天性缺陷工作组关于造血干细胞移植治疗先天性免疫缺陷的指南
    更多 指南
  • padlock-locked登录或订阅即可浏览 BMJ Best Practice 临床实践完整内容

内容使用需遵循免责声明