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Severe combined immunodeficiency

最后审阅: 17 Aug 2025
最后更新: 10 Dec 2024

小结

Definición

Anamnesis y examen

Principales factores de diagnóstico

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

Otros factores de diagnóstico

  • rash
  • oral or genital ulcers
  • microcephaly
  • skeletal abnormalities
  • blindness
  • dystonia
  • radiation sensitivity
Todos los datos

Factores de riesgo

  • Family history of SCID
  • Family history of infant death
  • Athabascan-speaking Native American people
  • Consanguinity
Todos los datos

Pruebas diagnósticas

Primeras pruebas diagnósticas para solicitar

  • CBC
  • flow cytometry
  • chest x-ray
  • quantitative immunoglobulin test (IgG, IgM, and IgA)
Todos los datos

Pruebas diagnósticas que deben considerarse

  • 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
Todos los datos

Algoritmo de tratamiento

Agudo

confirmed SCID

Colaboradores

Autores

Javier Chinen, MD, PhD

Professor

Pediatrics, Allergy, and Immunology

Baylor College of Medicine

Texas Children’s Hospital

Houston

TX

Divulgaciones

JC declares that he has no competing interests.

Agradecimientos

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.

Divulgaciones

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

Revisores por pares

Elizabeth Secord, MD

Professor of Pediatrics

Division of Immunology

Wayne State University School of Medicine

Detroit

MI

Divulgaciones

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

Divulgaciones

WQ 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.

Referencias

Nuestros equipos internos de evidencia y editoriales colaboran con colaboradores expertos internacionales y revisores pares para garantizar que brindemos acceso a la información más clínicamente relevante posible.

Artículos principales

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]. Resumen

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  Resumen

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  Resumen

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

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  Resumen

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.

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.
  • Severe combined immunodeficiency images
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