Punwani D, Kawahara M, Yu J, Sanford U, Roy S, Patel K, Carbonaro DA et al (2017) Lentivirus mediated correction of Artemis-deficient severe combined immunodeficiency. Mamcarz E, Zhou S, Lockey T et al (2019) Lentiviral gene therapy combined with low-dose busulfan in infants with SCID-X1. Hacein-Bey-Abina S, Le Deist F, Carlier F et al (2002) Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy N Engl J Med 346:1185–1193. Ĭavazzana-Calvo M, Hacein-Bey S, de Saint Basile G et al (2000) Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease Science 288:669–672. Epub 2018 Sep 5Īiuti A, Cattaneo F, Galimberti S et al (2009) Gene therapy for immunodeficiency due to adenosine deaminase deficiency. Kohn DB, Hershfield MS, Puck JM, Aiuti A, Blincoe A, Gaspar HB et al (2019) Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency. N Engl J Med 316:589–596Ĭhan B, Wara D, Bastian J et al (2005) Long-term efficacy of enzyme replacement therapy for adenosine deaminase (ADA)-deficient severe combined immunodeficiency (SCID). Hershfield MS, Buckley RH, Melton GML, AL, Schiff R, Hatem C et al (1987) Treatment of adenosine deaminase deficiency with polyethylene glycol-modified adenosine deaminase. Heimall J, Logan BR, Cowan MJ, Notarangelo LD, Griffin L, Puck JM et al (2017) Immune reconstitution and survival of 100 SCID patients post-hematopoietic cell transplant: a PIDTC natural history study. īuckley RH (2011) Transplantation of hematopoietic stem cells in human severe combined immunodeficiency: long term outcomes. Shearer WT, Dunn E, Notarangelo LD et al (2014) Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience. Puck JM (2019) Newborn screening for severe combined immunodeficiencies and T-cell lymphopenia. Newborn screening for severe combined immunodeficiency (2009) a summary of the evidence and Advisory Committee decision Report date 29 April, 2009. Kwan A, Abraham RS, Currier R et al (2014) Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. īaker MW, Grossman WJ, Laessig RH et al (2009) Development of a routine newborn screening protocol for severe combined immunodeficiency. WHO Chronicle, Geneva: World Health Organisation 22:473Ĭhan K, Puck JM (2005) Development of population-based newborn screening for severe combined immunodeficiency. Wilson JM, Jungner YG (1968) Principles and practice of screening for disease. Pai SY, Logan BR, Griffith LM et al (2014) Transplantation outcomes for severe combined immunodeficiency, 2000–2009. Myers LA, Patel DD, Puck JM, Buckley RH (2002) Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival. Numerous challenges remain, including the development of clinical consensus regarding confirmatory and diagnostic testing, early interventions, and best practices for immune reconstitution in affected infants. This article provides an overview of newborn screening for SCID, recommended steps for follow-up testing and early intervention as well as long-term follow-up. Early diagnosis may also improve the quality of life for affected patients. Advances in the clinical care and new therapeutics for many inborn errors of immunity support the need for early diagnosis and prompt institution of therapies to reduce morbidity and mortality. This methodology has been adapted to screen for another monogenic inborn defect, spinal muscle atrophy. The success of SCID newborn screening has increased interest in developing and implementing molecular testing for other clinically significant inborn errors of immunity. Newborn screening for SCID has provided opportunities to measure the population prevalence of this disorder and evaluate the effect of early interventions on the overall outcomes in affected infants. It also represents the first newborn screening test to utilize molecular testing on DNA from newborn dried blood spots. Newborn screening for severe combined immune deficiency (SCID) is the first inborn error of immunity (IEI) to be detected through population screening.
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