Lessons Learned From Five Years of Newborn Screening for Severe Combined Immunodeficiency in Israel

Fischer, 2015, Severe combined immunodeficiencies and related disorders, Nat Rev Dis Primers, 1, 15061, 10.1038/nrdp.2015.61 Michniacki, 2019, Severe combined immunodeficiency: a review for neonatal clinicians, Neoreviews, 20, e326, 10.1542/neo.20-6-e326 Tangye, 2020, Human inborn errors of immunity: 2019 update on the classification from the International Union of Immunological Societies Expert Committee, J Clin Immunol, 40, 24, 10.1007/s10875-019-00737-x Bousfiha, 2018, The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies, J Clin Immunol, 38, 129, 10.1007/s10875-017-0465-8 Buckley, 2011, Transplantation of hematopoietic stem cells in human severe combined immunodeficiency: longterm outcomes, Immunol Res, 49, 25, 10.1007/s12026-010-8191-9 Buckley, 2004, Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution, Annu Rev Immunol, 22, 625, 10.1146/annurev.immunol.22.012703.104614 Brown, 2011, Neonatal diagnosis of severe combined immunodeficiency leads to significantly improved survival outcome: the case for newborn screening, Blood, 117, 3243, 10.1182/blood-2010-08-300384 Chan, 2011, Early vs. delayed diagnosis of severe combined immunodeficiency: a family perspective survey, Clin Immunol, 138, 3, 10.1016/j.clim.2010.09.010 Heimall, 2017, Long term outcomes of severe combined immunodeficiency: therapy implications, Expert Rev Clin Immunol, 13, 1029, 10.1080/1744666X.2017.1381558 Railey, 2009, Long-term clinical outcome of patients with severe combined immunodeficiency who received related donor bone marrow transplants without pretransplant chemotherapy or post-transplant GVHD prophylaxis, J Pediatr, 155, 834, 10.1016/j.jpeds.2009.07.049 Chan, 2011, A Markov model to analyze cost-effectiveness of screening for severe combined immunodeficiency (SCID), Mol Genet Metab, 104, 383, 10.1016/j.ymgme.2011.07.007 Verbsky, 2012, The Wisconsin approach to newborn screening for severe combined immunodeficiency, J Allergy Clin Immunol, 129, 622, 10.1016/j.jaci.2011.12.004 Kwan, 2014, Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States, JAMA, 312, 729, 10.1001/jama.2014.9132 Hale, 2021, Ten years of newborn screening for severe combined immunodeficiency (SCID) in Massachusetts, J Allergy Clin Immunol Pract, 9, 2060, 10.1016/j.jaip.2021.02.006 Currier, 2021, SCID newborn screening: what we've learned, J Allergy Clin Immunol, 147, 417, 10.1016/j.jaci.2020.10.020 Gizewska, 2020, Newborn screening for SCID and other severe primary immunodeficiency in the Polish-German transborder area: experience from the first 14 months of collaboration, Front Immunol, 11, 1948, 10.3389/fimmu.2020.01948 Strand, 2020, Second-tier next generation sequencing integrated in nationwide newborn screening provides rapid molecular diagnostics of severe combined immunodeficiency, Front Immunol, 11, 1417, 10.3389/fimmu.2020.01417 Baekvad-Hansen, 2021, Implementation of SCID screening in Denmark, Int J Neonatal Screen, 7, 54, 10.3390/ijns7030054 Gongrich, 2021, First year of TREC-based national SCID screening in Sweden, Int J Neonatal Screen, 7, 59, 10.3390/ijns7030059 Truck, 2020, Swiss newborn screening for severe T and B cell deficiency with a combined TREC/KREC assay - management recommendations, Swiss Med Wkly, 150, w20254, 10.4414/smw.2020.20254 de Felipe, 2016, Prospective neonatal screening for severe T- and B-lymphocyte deficiencies in Seville, Pediatr Allergy Immunol, 27, 70, 10.1111/pai.12501 Argudo-Ramirez, 2019, First universal newborn screening program for severe combined immunodeficiency in Europe. Two-years' experience in Catalonia (Spain), Front Immunol, 10, 2406, 10.3389/fimmu.2019.02406 Chien, 2015, Incidence of severe combined immunodeficiency through newborn screening in a Chinese population, J Formos Med Assoc, 114, 12, 10.1016/j.jfma.2012.10.020 Mandola, 2019, Ataxia telangiectasia diagnosed on newborn screening-case cohort of 5 years' experience, Front Immunol, 10, 2940, 10.3389/fimmu.2019.02940 Audrain, 2018, Newborn screening for severe combined immunodeficiency: analytic and clinical performance of the T cell receptor excision circle assay in France (DEPISTREC Study), J Clin Immunol, 38, 778, 10.1007/s10875-018-0550-7 Gans, 2020, Retrospective analysis of a New York newborn screen severe combined immunodeficiency referral center, J Clin Immunol, 40, 456, 10.1007/s10875-020-00757-y van der Spek, 2015, TREC based newborn screening for severe combined immunodeficiency disease: a systematic review, J Clin Immunol, 35, 416, 10.1007/s10875-015-0152-6 Amatuni, 2019, Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California, 2010-2017, Pediatrics, 143, 10.1542/peds.2018-2300 Rechavi, 2017, First year of Israeli newborn screening for severe combined immunodeficiency-clinical achievements and insights, Front Immunol, 8, 1448, 10.3389/fimmu.2017.01448 Al-Mousa, 2018, High incidence of severe combined immunodeficiency disease in Saudi Arabia detected through combined T cell receptor excision circle and next generation sequencing of newborn dried blood spots, Front Immunol, 9, 782, 10.3389/fimmu.2018.00782 Knight, 2020, Follow-up for an abnormal newborn screen for severe combined immunodeficiencies (NBS SCID): a Clinical Immunology Society (CIS) survey of current practices, Int J Neonatal Screen, 6, 52, 10.3390/ijns6030052 Fronkova, 2014, The TREC/KREC assay for the diagnosis and monitoring of patients with DiGeorge syndrome, PLoS One, 9, e114514, 10.1371/journal.pone.0114514 Patrawala, 2019, Nonsevere combined immunodeficiency T-cell lymphopenia identified through newborn screening, Curr Opin Allergy Clin Immunol, 19, 586, 10.1097/ACI.0000000000000586 Ward, 2013, Challenges of newborn severe combined immunodeficiency screening among premature infants, Pediatrics, 131, e1298, 10.1542/peds.2012-1921 Somech, 2013, Newborn screening for severe T and B cell immunodeficiency in Israel: a pilot study, Isr Med Assoc J, 15, 404 Somech, 2014, A call to include severe combined immunodeficiency in newborn screening program, Rambam Maimonides Med J, 5, 10.5041/RMMJ.10135 Shearer, 2014, Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience, J Allergy Clin Immunol, 133, 1092, 10.1016/j.jaci.2013.09.044 Lev, 2021, Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defects, J Exp Med, 218, 10.1084/jem.20201062 Amariglio, 2010, Molecular assessment of thymus capabilities in the evaluation of T-cell immunodeficiency, Pediatr Res, 67, 211, 10.1203/PDR.0b013e3181c6e554 Cuperus, 2017, Congenital erythroderma should be considered as an urgent warning sign of immunodeficiency: a case of Omenn syndrome, Eur J Dermatol, 27, 313, 10.1684/ejd.2017.2992 Lev, 2019, Reduced function and diversity of T cell repertoire and distinct clinical course in patients with IL7RA mutation, Front Immunol, 10, 1672, 10.3389/fimmu.2019.01672 Puck, 2019, Newborn screening for severe combined immunodeficiency and T-cell lymphopenia, Immunol Rev, 287, 241, 10.1111/imr.12729 Somech, 2011, T-cell receptor excision circles in primary immunodeficiencies and other T-cell immune disorders, Curr Opin Allergy Clin Immunol, 11, 517, 10.1097/ACI.0b013e32834c233a Lev, 2013, Thymic function in MHC class II-deficient patients, J Allergy Clin Immunol, 131, 831, 10.1016/j.jaci.2012.10.040 Marcus, 2018, MHC II deficient infant identified by newborn screening program for SCID, Immunol Res, 66, 537, 10.1007/s12026-018-9019-2 Sarrabay, 2020, PSMB10, the last immunoproteasome gene missing for PRAAS, J Allergy Clin Immunol, 145, 1015, 10.1016/j.jaci.2019.11.024 Albin-Leeds, 2017, Idiopathic T cell lymphopenia identified in New York State Newborn Screening, Clin Immunol, 183, 36, 10.1016/j.clim.2017.07.002 Wahlstrom, 2015, Hematopoietic stem cell transplantation for severe combined immunodeficiency, Curr Pediatr Rep, 3, 1, 10.1007/s40124-014-0071-7 Janda, 2010, Multicenter survey on the outcome of transplantation of hematopoietic cells in patients with the complete form of DiGeorge anomaly, Blood, 116, 2229, 10.1182/blood-2010-03-275966 Davies, 2017, Thymus transplantation for complete DiGeorge syndrome: European experience, J Allergy Clin Immunol, 140, 1660, 10.1016/j.jaci.2017.03.020 Heimall, 2017, Immune reconstitution and survival of 100 SCID patients post-hematopoietic cell transplant: a PIDTC natural history study, Blood, 130, 2718, 10.1182/blood-2017-05-781849