Abstract
Severe Combined Immunodeficiency (SCID) is a paediatric emergency as it can be rapidly fatal
Clinical suspicion is essential as clinical presentation may be nonspecific
Immunophenotyping is extremely important for the diagnosis but it must be confirmed by molecular characterization
Early diagnosis and hematopoietic stem cells transplantation improves the survival of SCID patients
Supportive care and management of infections from the time of diagnosis until transplantation are of utmost importance
SCID neonatal screening is a promising option for earlier diagnosis and treatment.
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Marques, L., Branco, L., Vasconcelos, J., Neves, E. (2019). Respiratory Distress and Hypoxemia. In: Rezaei, N. (eds) Pediatric Immunology. Springer, Cham. https://doi.org/10.1007/978-3-030-21262-9_27
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DOI: https://doi.org/10.1007/978-3-030-21262-9_27
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