First universal newborn screening program for severe combined immunodeficiency in europe. Two-years' experience in catalonia (Spain)
Argudo-Ramírez, Ana (Hospital Clínic i Provincial de Barcelona)
Martín-Nalda, Andrea (Hospital Universitari Vall d'Hebron)
Marín-Soria, Jose L. (Hospital Clínic i Provincial de Barcelona)
López-Galera, Rosa M. (Hospital Clínic i Provincial de Barcelona)
Pajares-García, Sonia (Hospital Clínic i Provincial de Barcelona)
González de Aledo-Castillo, Jose M. (Hospital Clínic i Provincial de Barcelona)
Martínez Gallo, Mónica (Hospital Universitari Vall d'Hebron)
Garcia-Prat, Marina (Hospital Universitari Vall d'Hebron)
Colobrán Oriol, Roger (Hospital Universitari Vall d'Hebron)
Rivière, Jacques G.. (Hospital Universitari Vall d'Hebron)
Quintero, Yania (Hospital Clínic i Provincial de Barcelona)
Collado, Tatiana (Hospital Clínic i Provincial de Barcelona)
García-Villoria, Judit (Hospital Clínic i Provincial de Barcelona)
Ribes i Rubió, Antònia (Hospital Clínic i Provincial de Barcelona)
Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron)
Universitat Autònoma de Barcelona

Data:	2019
Resum:	Severe combined immunodeficiency (SCID), the most severe form of T-cell immunodeficiency, can be screened at birth by quantifying T-cell receptor excision circles (TRECs) in dried blood spot (DBS) samples. Early detection of this condition speeds up the establishment of appropriate treatment and increases the patient's life expectancy. Newborn screening for SCID started in January 2017 in Catalonia, the first Spanish and European region to universally include this testing. The results obtained in the first 2 years of experience are evaluated here. All babies born between January 2017 and December 2018 were screened. TREC quantification in DBS (1. 5 mm diameter) was performed with the Enlite Neonatal TREC kit from PerkinElmer (Turku, Finland). In 2018, the retest cutoff in the detection algorithm was updated based on the experience gained in the first year, and changed from 34 to 24 copies/µL. This decreased the retest rate from 3. 34 to 1. 4% (global retest rate, 2. 4%), with a requested second sample rate of 0. 23% and a positive detection rate of 0. 02%. Lymphocyte phenotype (T, B, NK populations), expression of CD45RA/RO isoforms, percentage and intensity of TCR αβ and TCR γδ, presence of HLA-DR+ T lymphocytes, and in vitro lymphocyte proliferation were studied in all patients by flow cytometry. Of 130,903 newborns screened, 30 tested positive, 15 of which were male. During the study period, one patient was diagnosed with SCID: incidence, 1 in 130,903 births in Catalonia. Thirteen patients had clinically significant T-cell lymphopenia (non-SCID) with an incidence of 1 in 10,069 newborns (43% of positive detections). Nine patients were considered false-positive cases because of an initially normal lymphocyte count with normalization of TRECs between 3 and 6 months of life, four infants had transient lymphopenia due to an initially low lymphocyte count with recovery in the following months, and three patients are still under study. The results obtained provide further evidence of the benefits of including this disease in newborn screening programs. Longer follow-up is needed to define the exact incidence of SCID in Catalonia.
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	Newborn screening ; Severe combined immunodeficiency ; T-cell receptor excision circles ; T-cell receptor ; T-lymphocytes ; Stem cell transplantation
Publicat a:	Frontiers in immunology, Vol. 10 Núm. OCT (2019) , p. 2406, ISSN 1664-3224

DOI: 10.3389/fimmu.2019.02406
PMID: 31695692

10 p, 824.6 KB

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