Resumo
Definição
História e exame físico
Principais fatores diagnósticos
- family history of WAS
- easy bruising and petechiae
Outros fatores diagnósticos
- recurrent infections
- eczema
- bruises and petechiae
- lymphadenopathy
- perforated tympanic membranes
- serious bleeding
- serious/life-threatening infection
- autoimmunity
Fatores de risco
- maternal WAS gene mutation carrier
- male sex
Диагностические исследования
Исследования, которые показаны в первую очередь
- CBC with platelet volume
- WAS protein (WASp) analysis
- WAS protein (WASp) gene mutation analysis
Исследования, проведение которых нужно рассмотреть
- 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
Алгоритм лечения
attenuated WAS
severe, classical WAS
Составители
Авторы
Siobhan Burns, MB BAO BCh, MRCPI (Paeds)
Reader and Consultant in Immunology
University College London
Department of Immunology
Royal Free Hospital
London
UK
Раскрытие информации
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
Раскрытие информации
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.
Рецензенты
Phil Fischer, MD
Professor of Pediatrics
Mayo Clinic
Rochester
MN
Раскрытие информации
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
Раскрытие информации
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.
Список литературы
Основные статьи
O'Sullivan E, Kinnon C, Brickell P. Wiskott-Aldrich syndrome protein, WASP. Int J Biochem Cell Biol. 1999;31:383-387. Аннотация
Imai K, Morio T, Zhu Y, et al. Clinical course of patients with WASP gene mutations. Blood. 2004;103:456-464.Полный текст Аннотация
Burns S, Cory GO, Vainchenker W, et al. Mechanisms of WASp-mediated hematologic and immunologic disease. Blood. 2004;104:3454-3462.Полный текст Аннотация
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.Полный текст Аннотация
Статьи, указанные как источники
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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