最近审阅: 3 十一月 2020
最近更新: 30 十月 2018

小结

定义

病史和体格检查

关键诊断因素

  • 湿疹血小板减少伴免疫缺陷综合征的家族史
  • 容易擦伤和瘀点

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

危险因素

  • 母系 WAS 基因突变携带者
  • 男性

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
更多 首要检查

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
  • 丙型肝炎病毒的PCR分析
  • 腺病毒、EB 病毒和巨细胞病毒的 PCR 检测
  • 存储本底血清和血浆
更多 需考虑的检查

治疗流程

撰稿人

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

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.

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Professor of Pediatrics

Mayo Clinic

Rochester

MN

利益声明

PF declares that he has no competing interests.

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.

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