Wiskott-Aldrich syndrome
Resumen
Definición
Anamnesis y examen
Principales factores de diagnóstico
- family history of WAS
- easy bruising and petechiae
Otros factores de diagnóstico
- recurrent infections
- eczema
- bruises and petechiae
- lymphadenopathy
- perforated tympanic membranes
- serious bleeding
- serious/life-threatening infection
- autoimmunity
Factores de riesgo
- maternal WAS gene mutation carrier
- male sex
Pruebas diagnósticas
Primeras pruebas diagnósticas para solicitar
- CBC with platelet volume
- WAS protein (WASp) analysis
- WAS protein (WASp) gene mutation analysis
Pruebas diagnósticas que deben considerarse
- 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 tratamiento
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
Divulgaciones
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
Divulgaciones
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 por pares
Phil Fischer, MD
Professor of Pediatrics
Mayo Clinic
Rochester
MN
Divulgaciones
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
Divulgaciones
DK declares that he has no competing interests.
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Referencias
Artículos principales
O'Sullivan E, Kinnon C, Brickell P. Wiskott-Aldrich syndrome protein, WASP. Int J Biochem Cell Biol. 1999;31:383-387. Resumen
Imai K, Morio T, Zhu Y, et al. Clinical course of patients with WASP gene mutations. Blood. 2004;103:456-464.Texto completo Resumen
Burns S, Cory GO, Vainchenker W, et al. Mechanisms of WASp-mediated hematologic and immunologic disease. Blood. 2004;104:3454-3462.Texto completo Resumen
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 Resumen
Artículos de referencia
Una lista completa de las fuentes a las que se hace referencia en este tema está disponible para los usuarios con acceso a todo BMJ Best Practice.
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