Review: Why screen for severe combined immunodeficiency disease?
Arch Pediatr
; 27(8): 485-489, 2020 Nov.
Article
en En
| MEDLINE
| ID: mdl-32928653
ABSTRACT
Newborn screening for severe combined immunodeficiency (SCID) is now routinely performed in many countries across Europe and around the world. The number of T-cell receptor excision circles (TRECs) reflects T cell levels. TREC quantification is possible using dried blood spot (DBS) samples already collected from newborns to screen for other conditions. This method is very sensitive and highly specific. Data in the literature show that the survival rate for children with SCID is much higher when the disease is detected through early screening, as opposed to a later diagnosis. Newborns diagnosed with SCID may receive the appropriate care quickly, before the onset of serious infectious complications, which raises survival rates, improves quality of life, and limits side effects and treatment costs. At the request of the French Ministry of Health, France's National Authority for Health (Haute Autorité de Santé) is expected to issue recommendations on this topic soon. The nationwide DEPISTREC study, involving 48 maternity units across France, showed that routine SCID screening is feasible and effective. Such screening offers the additional benefit of also diagnosing non-SCID lymphopenia within the infant population.
Palabras clave
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Inmunodeficiencia Combinada Grave
Tipo de estudio:
Diagnostic_studies
/
Guideline
/
Prognostic_studies
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Screening_studies
Idioma:
En
Revista:
Arch Pediatr
Año:
2020
Tipo del documento:
Article