Última revisão: 24 Out 2020
Última atualização: 30 Out 2018

Resumo

Definição

História e exame físico

Principais fatores de diagnóstico

  • história familiar de síndrome de Wiskott-Aldrich (SWA)
  • facilidade de formar hematomas e petéquias

Outros fatores de diagnóstico

  • infecções recorrentes
  • eczema
  • hematomas e petéquias
  • linfadenopatia
  • membranas timpânicas perfuradas
  • sangramento grave
  • infecção grave/com risco de vida
  • autoimunidade

Fatores de risco

  • portador de mutação do gene WAS materno
  • sexo masculino

Exames diagnósticos

1° exames a serem solicitados

  • hemograma completo com volume plaquetário
  • análise da proteína WAS (WASp)
  • análise da mutação gênica da proteína WAS (WASp)
Mais 1° exames a serem solicitados

Exames a serem considerados

  • níveis de imunoglobulina
  • respostas à vacina
  • iso-hemaglutininas
  • subgrupos de linfócitos
  • ensaios de proliferação das células T
  • testes da função hepática
  • análise da reação em cadeia da polimerase para hepatite C
  • testes de reação em cadeia da polimerase para adenovírus, vírus Epstein-Barr (EBV) e citomegalovírus (CMV)
  • reservar soro e plasma
Mais exames a serem considerados

Algoritmo de tratamento

Colaboradores

Siobhan Burns

Reader and Consultant in Immunology

University College London

Department of Immunology

Royal Free Hospital

London

UK

Divulgações

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

Professor of Paediatric Immunology

Molecular Immunology Unit and Centre for Immunodeficiency

Institute of Child Health

University College London

London

UK

Divulgações

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.

Colegas revisoresMOSTRAR TODOS

Professor of Pediatrics

Mayo Clinic

Rochester

MN

Divulgações

PF declares that he has no competing interests.

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

Divulgações

DK declares that he has no competing interests.

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