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
Outros fatores diagnósticos
- rash
- oral or genital ulcers
- microcephaly
- skeletal abnormalities
- blindness
- dystonia
- radiation sensitivity
Fatores de risco
- Family history of SCID
- Family history of infant death
- Athabascan-speaking Native American people
- Consanguinity
Investigações diagnósticas
Primeiras investigações a serem solicitadas
- CBC
- flow cytometry
- chest x-ray
- quantitative immunoglobulin test (IgG, IgM, and IgA)
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
Algoritmo de tratamento
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.
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Declarações
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Referências
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.
Differentials
- 22q11.2 Microdeletion Syndrome/DiGeorge syndrome
- Omenn syndrome
- Zeta chain-associated protein 70 deficiency
More DifferentialsGuidelines
- 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
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