Summary
Definition
History and exam
Key diagnostic factors
- história familiar de SWA
- facilidade de formar hematomas e petéquias
Other diagnostic factors
- infecções recorrentes
- eczema
- hematomas e petéquias
- linfadenopatia
- membranas timpânicas perfuradas
- sangramento grave
- infecção grave/com risco de vida
- autoimunidade
Risk factors
- portador de mutação do gene WAS materno
- sexo masculino
Diagnostic investigations
1st investigations to order
- hemograma completo com volume plaquetário
- análise da proteína WAS (WASp)
- análise da mutação gênica da proteína WAS (WASp)
Investigations to consider
- níveis de imunoglobulina
- respostas à vacina
- iso-hemaglutininas
- subgrupos de linfócitos
- ensaios de proliferação das células T
- testes da função hepática
- análise por reação em cadeia da polimerase para hepatite C
- testes de reação em cadeia da polimerase para adenovírus, vírus Epstein-Barr e citomegalovírus
- reservar soro e plasma
Treatment algorithm
síndrome de Wiskott-Aldrich (SWA) atenuada
síndrome de Wiskott-Aldrich (SWA) clássica grave
Contributors
Authors
Siobhan Burns, MB BAO BCh, MRCPI (Paeds)
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
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.
References
Key articles
O'Sullivan E, Kinnon C, Brickell P. Wiskott-Aldrich syndrome protein, WASP. Int J Biochem Cell Biol. 1999;31:383-387. Abstract
Imai K, Morio T, Zhu Y, et al. Clinical course of patients with WASP gene mutations. Blood. 2004;103:456-464.Full text Abstract
Imai K, Morio T, Zhu Y, et al. Clinical course of patients with WASP gene mutations. Blood. 2004;103:456-464.Full text Abstract
Burns S, Cory GO, Vainchenker W, et al. Mechanisms of WASp-mediated hematologic and immunologic disease. Blood. 2004;104:3454-3462.Full text Abstract
Filipovich AH, Stone JV, Tomany SC, et al. Impact of donor type on outcome of bone marrow transplantation for Wiskott-Aldrich syndrome: collaborative study of the International Bone Marrow Transplant Registry and the National Marrow Donor Program. Blood. 2001;97:1598-1603.Full text Abstract
Reference articles
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
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