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
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
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
治疗流程
轻症WAS
典型的重症 WAS
撰稿人
作者
Siobhan Burns, MB BAO BCh, MRCPI (Paeds)
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
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.
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)
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