შეჯამება
განსაზღვრება
ანამნეზი და გასინჯვა
ძირითადი დიაგნოსტიკური ფაქტორები
- family history of WAS
- easy bruising and petechiae
სხვა დიაგნოსტიკური ფაქტორები
- recurrent infections
- eczema
- bruises and petechiae
- lymphadenopathy
- perforated tympanic membranes
- serious bleeding
- serious/life-threatening infection
- autoimmunity
რისკფაქტორები
- maternal WAS gene mutation carrier
- male sex
დიაგნოსტიკური კვლევები
1-ად შესაკვეთი გამოკვლევები
- CBC with platelet volume
- WAS protein (WASp) analysis
- WAS protein (WASp) gene mutation analysis
გასათვალისწინებელი კვლევები
- 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
მკურნალობის ალგორითმი
attenuated WAS
severe, classical WAS
კონტრიბუტორები
ავტორები
Siobhan Burns, MB BAO BCh, MRCPI (Paeds)
Reader and Consultant in Immunology
University College London
Department of Immunology
Royal Free Hospital
London
UK
გაფრთხილება:
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
გაფრთხილება:
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.
რეცენზენტები
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.
Peer reviewer acknowledgements
BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.
Disclosures
Peer reviewer affiliations and disclosures pertain to the time of the review.
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
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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