Last reviewed: March 2019
Last updated: October  2018

Summary

Definition

History and exam

Key diagnostic factors

  • FHx of WAS
  • easy bruising and petechiae

Other diagnostic factors

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

Risk factors

  • maternal WAS gene mutation carrier
  • male sex

Diagnostic investigations

1st investigations to order

  • FBC with platelet volume
  • WAS protein (WASp) analysis
  • WAS protein (WASp) gene mutation analysis
Full details

Investigations to consider

  • immunoglobulin levels
  • vaccine responses
  • isohaemagglutinins
  • lymphocyte subsets
  • T-cell proliferation assays
  • liver function tests
  • PCR analysis for hepatitis C
  • PCR tests for adenovirus, Epstein-Barr virus (EBV), and cytomegalovirus (CMV)
  • store serum and plasma
Full details

Treatment algorithm

Contributors

Authors VIEW ALL

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

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 VIEW ALL

Professor of Pediatrics

Mayo Clinic

Rochester

MN

Disclosures

PF declares that he has no competing interests.

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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