BMJ Best Practice
最后审核时间: 七月 2019
最近更新时间: 五月 2019

小结

定义

病史和查体

关键诊断因素

  • 存在的危险因素
  • 既往感染病史
  • 呼吸短促
  • 肛周疼痛

其他诊断因素

  • 疲劳
  • 腹泻
  • 腹痛
  • 咳嗽

危险因素

  • CGD 家族史
  • 年龄<5 岁
  • 男性
  • X 连锁携带者 X 染色体反常地失活偏移

诊断性检查

首要检查

  • 全血细胞计数 (FBC)
  • 红细胞沉降率 (ESR)
  • C 反应蛋白 (CRP)
  • CT
全部具体信息

需要考虑的检查

  • 对编码 NADPH 氧化酶成分的基因进行基因测序
  • 免疫印迹法
  • 流式细胞术分析各 NADPH 氧化酶成分
全部具体信息

治疗流程

贡献者

Consultant Clinical Immunologist

The Royal Free Hospital

London

UK

利益冲突披露
DL participated in a one-off advisory board for and received support to attend a conference from Biotest (UK).

Dr David Lowe would like to gratefully acknowledge Dr Adrian Thrasher, Dr Rebecca A. Marsh, and Dr Jack J. Bleesing, previous contributors to this monograph. AT is an author of a number of references cited in this monograph. RAM and JJB declare that they have no competing interests. Dr Rebecca A. Marsh and Dr Jack J. Bleesing wish to thank Dan Marmer, Carrie Koenig, and the Cincinnati Children's Hospital Clinical Diagnostic Immunology Lab. They also wish to thank Steven M. Holland, MD, Thomas Fleisher, MD, and Anthony Segal, MD, PhD, for helpful correspondence.

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Laboratory of Clinical Infectious Diseases

National Institute of Allergy and Infectious Diseases

NIH

Bethesda

MD

利益冲突披露
SMH declares that he has no competing interests.

Reader in Paediatric Immunology & HSCT

Institute of Cellular Medicine

Medical School

Newcastle University

Newcastle-upon-Tyne

UK

利益冲突披露
AG is an author of a reference cited in this monograph. AG declares that he has no competing interests.

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