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Severe combined immunodeficiency

Última revisão: 15 Sep 2025
Última atualização: 10 Dec 2024

Resumo

Definição

História e exame físico

Principais fatores diagnósticos

  • at-risk demographic
  • family history of SCID, infant death, or consanguinity
  • recurrent and unusually severe infections
  • chronic diarrhea
  • failure to thrive
  • absent lymphoid tissue
Detalhes completos

Outros fatores diagnósticos

  • rash
  • oral or genital ulcers
  • microcephaly
  • skeletal abnormalities
  • blindness
  • dystonia
  • radiation sensitivity
Detalhes completos

Fatores de risco

  • Family history of SCID
  • Family history of infant death
  • Athabascan-speaking Native American people
  • Consanguinity
Detalhes completos

Investigações diagnósticas

Primeiras investigações a serem solicitadas

  • CBC
  • flow cytometry
  • chest x-ray
  • quantitative immunoglobulin test (IgG, IgM, and IgA)
Detalhes completos

Investigações a serem consideradas

  • chest ultrasound
  • CT scan of the chest
  • MRI chest
  • fundoscopy
  • enzyme testing
  • serum uric acid
  • T-cell proliferation studies
  • polymerase chain reaction-based viremia testing
  • radiation sensitivity of fibroblast cultures
  • genetic testing
Detalhes completos

Algoritmo de tratamento

AGUDA

confirmed SCID

Colaboradores

Autores

Javier Chinen, MD, PhD

Professor

Pediatrics, Allergy, and Immunology

Baylor College of Medicine

Texas Children’s Hospital

Houston

TX

Declarações

JC declares that he has no competing interests.

Agradecimentos

Dr Chinen would like to gratefully acknowledge Dr John M. Cunningham, Dr James L. LaBelle, Dr John Routes, Dr James Verbsky, Dr Nicole Chase, and Dr Ebrahim Shakir, the previous contributors to this topic.

Declarações

JLL, JR, JV, and NC are authors of references cited in this topic. JMC and ES declare that they have no competing interests.

Revisores

Elizabeth Secord, MD

Professor of Pediatrics

Division of Immunology

Wayne State University School of Medicine

Detroit

MI

Declarações

ES declares that she has no competing interests.

Waseem Qasim, BMedSci (Hons), MBBS, MRCP (UK), MRCPCH, PhD

Senior Lecturer

Institute of Child Health

Consultant in Paediatric Immunology & Bone Marrow Transplantation

Great Ormond Street Hospital

London

UK

Declarações

WQ declares that he has no competing interests.

Créditos aos pareceristas

Os tópicos do BMJ Best Practice são constantemente atualizados, seguindo os desenvolvimentos das evidências e das diretrizes. Os pareceristas aqui listados revisaram o conteúdo pelo menos uma vez durante a história do tópico.

Declarações

As afiliações e declarações dos pareceristas referem--se ao momento da revisão.

Referências

Nossas equipes internas de editoria e de evidências trabalham em conjunto com colaboradores internacionais especializados e pares revisores para garantir que forneçamos acesso às informações o mais clinicamente relevantes possível.

Principais artigos

Bousfiha A, Moundir A, Tangye SG, et al. The 2022 update of IUIS phenotypical classification for human inborn errors of immunity. J Clin Immunol. 2022 Oct 6 [Epub ahead of print]. Resumo

Tangye SG, Al-Herz W, Bousfiha A, et al. Human inborn errors of immunity: 2022 update on the classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. 2022 Jun 24;1-35 [Epub ahead of print].Texto completo  Resumo

Bonilla FA, Khan DA, Ballas ZK, et al. Practice parameter for the diagnosis and management of primary immunodeficiency. J Allergy Clin Immunol. 2015 Nov;136(5):1186-205.e1-78.Texto completo  Resumo

Buckley RH. Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. Ann Rev Immunol. 2004:22:625-55. Resumo

Heimall J, Buckley RH, Puck J, et al. Recommendations for screening and management of late effects in patients with severe combined immunodeficiency after allogenic hematopoietic cell transplantation: a consensus statement from the second pediatric blood and marrow transplant consortium international conference on late effects after pediatric HCT. Biol Blood Marrow Transplant. 2017 Aug;23(8):1229-40.Texto completo  Resumo

Candotti F, de Villartay JP, Moshous D, et al. Severe combined immune deficiency. In: Sullivan KE, Stiehm ER, eds. Stiehm’s immune deficiencies: inborn errors in immunity. 2nd ed. Cambridge, MA: Academic Press, 2020:153-205.

Artigos de referência

Uma lista completa das fontes referenciadas neste tópico está disponível para os usuários com acesso total ao BMJ Best Practice.
  • Severe combined immunodeficiency images
  • Differentials

    • 22q11.2 Microdeletion Syndrome/DiGeorge syndrome
    • Omenn syndrome
    • Zeta chain-associated protein 70 deficiency
    More Differentials
  • Guidelines

    • Recommendations for screening and management of late effects in patients with severe combined immunodeficiency after allogeneic hematopoietic cell transplantation
    • Practice parameter for the diagnosis and management of primary immunodeficiency
    More Guidelines
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