Transplacentally acquired maternal T lymphocytes in severe combined immunodeficiency: a study of 121 patients. Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: report of the European experience 1968–1999. Successful newborn screening for SCID in the Navajo nation. History and current status of newborn screening for severe combined immunodeficiency. Early versus delayed diagnosis of severe combined immunodeficiency: a family perspective survey. Neonatal diagnosis of severe combined immunodeficiency leads to significantly improved survival outcome: the case for newborn screening. Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency. Recommendations for live viral and bacterial vaccines in immunodeficiency patients and their close contacts. BCG vaccination in patients with severe combined immunodeficiency: complications, risks, and vaccination policies. Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients. Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants. The first report of successful gene therapy for patients with SCID.īuckley, R. Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease. The first report of successful HSCT for a child with SCID.Ĭavazzana-Calvo, M. Immunological reconstitution of sex-linked lymphopenic immunological deficiency. A description of the effectiveness of newborn screening for SCID. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. Thorough descriptions of SCID conditions.Ĭonley, M. A model disease for molecular immunology and therapy. Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. The assessment of long-term outcomes of patients with SCID is now a major challenge, with a view to evaluating the quality and sustainability of immune restoration, the risks of sequelae and the ability to relieve the non-haematopoietic syndromic manifestations that accompany some of these conditions.īuckley, R. Further advances and a progressive extension of the indications for gene therapy can be expected in the future. Gene therapy is also becoming an effective option. Early, accurate and precise diagnosis combined with the ongoing implementation of newborn screening have enabled major advances in the care of infants with SCID, including better outcomes of allogeneic haematopoietic stem cell transplantation. The pathophysiology of many of these conditions has now been characterized. Several molecular defects causing SCIDs have been identified, along with many other defects causing profound, albeit incomplete, T cell immunodeficiencies the latter are referred to as atypical SCIDs or combined immunodeficiencies. Given that adaptive immunity is abrogated, patients with SCID are prone to recurrent infections caused by both non-opportunistic and opportunistic pathogens, leading to early death unless immunity can be restored. Severe combined immunodeficiencies (SCIDs) comprise a group of rare, monogenic diseases that are characterized by an early onset and a profound block in the development of T lymphocytes.

Leaky scid