title: [Neonatal screening of severe combined immunodeficiencies].
abstract: Severe combined immunodeficiencies (SCID) are a group of inherited diseases of the immune system characterized by profound abnormalities of T-cell development. Infants with SCID require prompt clinical intervention to prevent life-threatening infection and studies show significantly improved survival in babies diagnosed at birth based on previous family history. SCID follows the criteria for population-based newborn screening because it is asymptomatic at birth and fatal within the 1st year of life if there is no intervention, the confirmation of the disease is easy, there is a curative treatment, and it is known that early hematopoietic stem cell transplantation significantly improves survival, the quality of immune reconstitution, and quality of life. Quantification of T-cell receptor excision circles (TRECs) in DNA extracted from Guthrie samples is a sensitive and specific screening test for SCID. We conducted a nationwide prospective study of neonatal screening of SCID in a population of 200,000 French newborns over a period of 2 years. The objective was to study the clinical utility and the cost-effectiveness ratio, and to demonstrate that universal SCID screening could result in a substantial benefit to detect individuals, making screening relatively cost-effective in spite of the low incidence of the disease.
authors.affiliation: Service d'hématologie et d'immunologie pédiatrique, hôpital Mère-Enfants, 7, quai Moncousu, 44000 Nantes, France. Electronic address: caroline.thomas@chu-nantes.fr.
authors.forename: C
authors.initials: C
authors.lastname: Thomas
authors.affiliation: Laboratoire ANDEMEGEN, 38, boulevard J.-Monnet, 44093 Nantes cedex1, France.
authors.forename: S
authors.initials: S
authors.lastname: Mirallié
authors.affiliation: Direction de la recherche, cellule Innovation, 5, allée de l'Île-Gloriette, 44093 Nantes cedex 1, France.
authors.forename: C
authors.initials: C
authors.lastname: Pierres
authors.affiliation: Direction de la recherche, cellule Innovation, 5, allée de l'Île-Gloriette, 44093 Nantes cedex 1, France.
authors.forename: C
authors.initials: C
authors.lastname: Dert
authors.affiliation: Unité de recherche clinique en économie Île-de-France, groupe hospitalier Albert-Chenevier-Henri-Mondor, 51, avenue du Maréchal-de-Lattre-de-Tassigny, 94010 Créteil, France.
authors.forename: M-C
authors.initials: MC
authors.lastname: Clément
authors.affiliation: Centre de référence déficits immunitaires héréditaires (CEREDIH), hôpital Necker-Enfants malades, 149, rue de Sèvres, 75015 Paris, France; Unité d'immunologie, hématologie et rhumatologie pédiatrique, hôpital Necker-Enfants malades, 149, rue de Sèvres, 75015 Paris, France; Institut Imagine, 24, boulevard Montparnasse, 75015 Paris, France.
authors.forename: N
authors.initials: N
authors.lastname: Mahlaoui
authors.affiliation: Unité de recherche clinique en économie Île-de-France, groupe hospitalier Albert-Chenevier-Henri-Mondor, 51, avenue du Maréchal-de-Lattre-de-Tassigny, 94010 Créteil, France.
authors.forename: I
authors.initials: I
authors.lastname: Durand-Zaleski
authors.affiliation: Centre de référence déficits immunitaires héréditaires (CEREDIH), hôpital Necker-Enfants malades, 149, rue de Sèvres, 75015 Paris, France; Unité d'immunologie, hématologie et rhumatologie pédiatrique, hôpital Necker-Enfants malades, 149, rue de Sèvres, 75015 Paris, France; Institut Imagine, 24, boulevard Montparnasse, 75015 Paris, France.
authors.forename: A
authors.initials: A
authors.lastname: Fischer
authors.affiliation: Laboratoire d'immunologie, 9, quai Moncousu, 44000 Nantes, France.
authors.forename: M
authors.initials: M
authors.lastname: Audrain
mesh_terms: D003362:Cost-Benefit Analysis; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening / Q000191:economics; D011446:Prospective Studies; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis*