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Wiskott-Aldrich syndrome

Last reviewed: 13 Feb 2025
Last updated: 10 Jan 2025

Summary

Definition

病史和体格检查

关键诊断因素

  • family history of WAS
  • easy bruising and petechiae
完整详情

其他诊断因素

  • recurrent infections
  • eczema
  • bruises and petechiae
  • lymphadenopathy
  • perforated tympanic membranes
  • serious bleeding
  • serious/life-threatening infection
  • autoimmunity
完整详情

危险因素

  • maternal WAS gene mutation carrier
  • male sex
完整详情

诊断性检查

首要检查

  • CBC with platelet volume
  • WAS protein (WASp) analysis
  • WAS protein (WASp) gene mutation analysis
完整详情

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
完整详情

治疗流程

持续性治疗

attenuated WAS

severe, classical 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.

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