Wiskott-Aldrich syndrome
შეჯამება
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
Investigações diagnósticas
Primeiras investigações a serem solicitadas
- CBC with platelet volume
- WAS protein (WASp) analysis
- WAS protein (WASp) gene mutation analysis
Investigações a serem consideradas
- 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
Algoritmo de tratamento
attenuated WAS
severe, classical WAS
Colaboradores
Autores
Siobhan Burns, MB BAO BCh, MRCPI (Paeds)
Reader and Consultant in Immunology
University College London
Department of Immunology
Royal Free Hospital
London
UK
Declarações
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
Declarações
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.
Revisores
Phil Fischer, MD
Professor of Pediatrics
Mayo Clinic
Rochester
MN
Declarações
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
Declarações
DK declares that he has no competing interests.
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Referências
Principais artigos
O'Sullivan E, Kinnon C, Brickell P. Wiskott-Aldrich syndrome protein, WASP. Int J Biochem Cell Biol. 1999;31:383-387. Resumo
Imai K, Morio T, Zhu Y, et al. Clinical course of patients with WASP gene mutations. Blood. 2004;103:456-464.Texto completo Resumo
Burns S, Cory GO, Vainchenker W, et al. Mechanisms of WASp-mediated hematologic and immunologic disease. Blood. 2004;104:3454-3462.Texto completo Resumo
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.Texto completo Resumo
Artigos de referência
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