Summary
Definition
病史和体格检查
关键诊断因素
- family history of WAS
- easy bruising and petechiae
其他诊断因素
- recurrent infections
- eczema
- bruises and petechiae
- lymphadenopathy
- perforated tympanic membranes
- serious bleeding
- serious/life-threatening infection
- autoimmunity
危险因素
- maternal WAS gene mutation carrier
- male sex
诊断性检查
首要检查
- CBC with platelet volume
- WAS protein (WASp) analysis
- WAS protein (WASp) gene mutation analysis
需考虑的检查
- immunoglobulin levels
- vaccine responses
- isohemagglutinins
- lymphocyte subsets
- T-cell proliferation assays
- liver function tests
- polymerase chain reaction analysis for hepatitis C
- polymerase chain reaction tests for adenovirus, Epstein-Barr virus, and cytomegalovirus
- store serum and plasma
治疗流程
attenuated WAS
severe, classical 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
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