Wiskott-Aldrich syndrome

Last reviewed: 29 Oct 2022
Last updated: 12 Apr 2022

Summary

Definition

History and exam

Key diagnostic factors

  • family history of WAS
  • easy bruising and petechiae
More key diagnostic factors

Other diagnostic factors

  • recurrent infections
  • eczema
  • bruises and petechiae
  • lymphadenopathy
  • perforated tympanic membranes
  • serious bleeding
  • serious/life-threatening infection
  • autoimmunity
Other diagnostic factors

Risk factors

  • maternal WAS gene mutation carrier
  • male sex
More risk factors

Diagnostic investigations

1st investigations to order

  • CBC with platelet volume
  • WAS protein (WASp) analysis
  • WAS protein (WASp) gene mutation analysis
More 1st investigations to order

Investigations to consider

  • 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
More investigations to consider

Treatment algorithm

ONGOING

attenuated WAS

severe, classical WAS

Contributors

Authors

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

Disclosures

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

Disclosures

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.

Peer reviewers

Phil Fischer, MD

Professor of Pediatrics

Mayo Clinic

Rochester

MN

Disclosures

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

Disclosures

DK declares that he has no competing interests.

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