1. First universal newborn screening program for severe combined immunodeficiency in europe. Two-years' experience in catalonia (Spain)
- Author
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Argudo-Ramírez, Ana, Martín-Nalda, A., Marín-Soria, J. L., López-Galera, R. M., Pajares-García, Sonia, de Aledo-Castillo, J. M. G., Martínez-Gallo, M., Garcia-Prat, Marina, Colobrán Oriol, Roger, Riviere, J. G., Quintero, Y., Collado, Tatiana, García-Villoria, Judit, Ribes, A., Soler-Palacín, Pere, Universitat Autònoma de Barcelona, [Argudo-Ramírez A, Marín-Soria JL, López-Galera RM, Pajares-García S, González de Aledo-Castillo JM] Newborn Screening Laboratory, Inborn Errors of Metabolism Division, Biochemistry and Molecular Genetics Department, Hospital Clínic, Barcelona, Spain. [Martín-Nalda A, García-Prat M, Riviere JG, Soler-Palacín P] Unitat de Patologia Infecciosa i Immunodeficiències de Pediatria, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Spain. Universitat Autònoma de Barcelona, Barcelona, Spain. [Martínez-Gallo M] Servei d’ Immunologia, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Spain. Universitat Autònoma de Barcelona, Barcelona, Spain. [Colobran R] Servei d’ Immunologia, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Spain. Universitat Autònoma de Barcelona, Barcelona, Spain. Servei de Genètica Clínica i Molecular, Vall d'Hebron Hospital Universitari, Barcelona, Spain, Hospital Universitari Vall d'Hebron, and Vall d'Hebron Barcelona Hospital Campus
- Subjects
Male ,0301 basic medicine ,Newborn screening ,Pediatrics ,Lymphocyte ,Other subheadings::Other subheadings::/epidemiology [Other subheadings] ,Pilot Projects ,Lymphocyte proliferation ,0302 clinical medicine ,T-cell receptor excision circles ,Cribatge (Medicina) ,Immunology and Allergy ,T-cell receptor ,Lymphocytes ,Prospective Studies ,Immunodeficiency ,T-lymphocytes ,Original Research ,diagnóstico::técnicas y procedimientos diagnósticos::técnicas de laboratorio clínico::cribado neonatal [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS] ,Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Primary Immunodeficiency Diseases::Severe Combined Immunodeficiency [DISEASES] ,Incidence (epidemiology) ,Otros calificadores::Otros calificadores::/epidemiología [Otros calificadores] ,Stem cell transplantation ,severe combined immunodeficiency ,Flow Cytometry ,Síndromes de deficiència immunitària en els infants - Epidemiologia - Catalunya ,Dried blood spot ,medicine.anatomical_structure ,Diagnóstico::Técnicas y Procedimientos Diagnósticos::Técnicas de Laboratorio Clínico::Tamizaje Neonatal [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS] ,Severe combined immunodeficiency ,Female ,lcsh:Immunologic diseases. Allergy ,medicine.medical_specialty ,Catalonia ,Immunology ,Diagnosis::Diagnostic Techniques and Procedures::Clinical Laboratory Techniques::Neonatal Screening [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT] ,stem cell transplantation ,03 medical and health sciences ,Neonatal Screening ,Cataluña ,enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades del recién nacido::inmunodeficiencia combinada grave [ENFERMEDADES] ,medicine ,Humans ,newborn screening ,business.industry ,Infant, Newborn ,medicine.disease ,030104 developmental biology ,Spain ,lcsh:RC581-607 ,business ,030215 immunology - Abstract
Newborn screening; Severe combined immunodeficiency; T-cell receptor excision circles Cribratge de nadons; Immunodeficiència combinada greu; Cercles d'excisió de receptors de cèl·lules T Cribado de recién nacidos; Inmunodeficiencia combinada grave; Círculos de escisión de receptores de células T 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.
- Published
- 2019