Screening for and treatments of congenital immunodeficiency diseases

Clinics in Perinatology

Volumn 41, Issue 4, 2014, Pages 1001-1015

  Verbsky, James ^a   Routes, John ^a  

^a MEDICAL COLLEGE OF WISCONSIN   (United States)

Author keywords

Hematopoietic stem cell transplantation (HSCT); Newborn screening (NBS); Severe combined immunodeficiency (SCID); T cell lymphopenia; T cell receptor excision circles (TRECs)

Indexed keywords

BETA ACTIN; T LYMPHOCYTE RECEPTOR; LYMPHOCYTE ANTIGEN RECEPTOR;

BACTERIAL INFECTION; CLINICAL FEATURE; CONGENITAL HYPOTHYROIDISM; COST EFFECTIVENESS ANALYSIS; DIGEORGE SYNDROME; EARLY DIAGNOSIS; ENZYME ASSAY; ENZYME REPLACEMENT; FLOW CYTOMETRY; GENE MUTATION; GENE REARRANGEMENT; GENE THERAPY; HEALTH CARE COST; HEALTH PROGRAM; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HIGH THROUGHPUT SCREENING; HUMAN; HUMORAL IMMUNITY; IMMUNE DEFICIENCY; IMMUNOASSAY; IMMUNOGENETICS; INBORN ERROR OF METABOLISM; INFECTION PREVENTION; LYMPHOCYTE COUNT; LYMPHOCYTOPENIA; MENTAL DEFICIENCY; NEWBORN CARE; NEWBORN SCREENING; PHENYLKETONURIA; POPULATION RESEARCH; PRACTICE GUIDELINE; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; REVIEW; RISK REDUCTION; SEVERE COMBINED IMMUNODEFICIENCY; T LYMPHOCYTE; VDJ RECOMBINATION; GENETICS; IMMUNOLOGIC DEFICIENCY SYNDROMES; NEWBORN; PROCEDURES;

HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT, NEWBORN; NEONATAL SCREENING; RECEPTORS, ANTIGEN, T-CELL; SEVERE COMBINED IMMUNODEFICIENCY;

EID: 84911004939     PISSN: 00955108     EISSN: 15579840     Source Type: Journal    
DOI: 10.1016/j.clp.2014.08.017     Document Type: Review

References (63)

1. Guthrie R., Susi A. Asimple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 1963, 32:338-343.
2. Wilson J.M., Jungner G. Principles and practice of screening for disease 1968, WHO, Geneva (Switzerland).
3. Fleischman A.R., Lin B.K., Howse J.L. Acommentary on the President's Council on Bioethics report: the changing moral focus of newborn screening. Genet Med 2009, 11:507-509.
4. Andermann A., Blancquaert I., Beauchamp S., et al. Revisiting Wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years. Bull World Health Organ 2008, 86:317-319.
5. Newborn screening: toward a uniform screening panel and system. Genet Med 2006, 8(Suppl 1):1S-252S.
6. Rose S.R., Brown R.S., Foley T., et al. Update of newborn screening and therapy for congenital hypothyroidism. Pediatrics 2006, 117:2290-2303.
7. Kharrazi M., Hyde T., Young S., et al. Use of screening dried blood spots for estimation of prevalence, risk factors, and birth outcomes of congenital cytomegalovirus infection. JPediatr 2010, 157:191-197.
8. Bales A.M., Zaleski C.A., McPherson E.W. Patient and family experiences and opinions on adding 22q11 deletion syndrome to the newborn screen. JGenet Couns 2010, 19:526-534.
9. Buckley R.H. The multiple causes of human SCID. JClin Invest 2004, 114:1409-1411.
10. Buckley R.H., Schiff S.E., Schiff R.I., et al. Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency. NEngl J Med 1999, 340:508-516.
11. Fischer A., Notarangelo L.D. Combined immunodeficiencies. Immunologic disorders in infants and children 2004, 3-16. Elsevier, Philadelphia. E.R. Stiehm, H.D. Ochs, J.A. Winkelstein (Eds.).
12. Kaye C.I., Accurso F., La F.S., et al. Newborn screening fact sheets. Pediatrics 2006, 118:e934-e963.
13. Stephan J.L., Vlekova V., Le Deist F., et al. Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients. JPediatr 1993, 123:564-572.
14. Werther R.L., Crawford N.W., Boniface K., et al. Rotavirus vaccine induced diarrhea in a child with severe combined immune deficiency. JAllergy Clin Immunol 2009, 124:600.
15. Marciano B.E., Huang C.Y., Joshi G., et al. BCG vaccination in patients with severe combined immunodeficiency: complications, risks, and vaccination policies. JAllergy Clin Immunol 2014, 133:1134-1141.
16. Buckley R.H. Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. Annu Rev Immunol 2004, 22:625-655.
17. Myers L.A., Patel D.D., Puck J.M., et al. Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival. Blood 2002, 99:872-878.
18. Villa A., Notarangelo L.D., Roifman C.M. Omenn syndrome: inflammation in leaky severe combined immunodeficiency. JAllergy Clin Immunol 2008, 122:1082-1086.
19. Villa A., Santagata S., Bozzi F., et al. Omenn syndrome: a disorder of Rag1 and Rag2 genes. JClin Immunol 1999, 19:87-97.
20. Honig M., Schwarz K. Omenn syndrome: a lack of tolerance on the background of deficient lymphocyte development and maturation. Curr Opin Rheumatol 2006, 18:383-388.
21. Denianke K.S., Frieden I.J., Cowan M.J., et al. Cutaneous manifestations of maternal engraftment in patients with severe combined immunodeficiency: a clinicopathologic study. Bone Marrow Transplant 2001, 28:227-233.
22. Buckley R.H. Ahistorical review of bone marrow transplantation for immunodeficiencies. JAllergy Clin Immunol 2004, 113:793-800.
23. Buckley R.H. Transplantation of hematopoietic stem cells in human severe combined immunodeficiency: longterm outcomes. Immunol Res 2011, 49:25-43.
24. Brigida I., Sauer A.V., Ferrua F., et al. B-cell development and functions and therapeutic options in adenosine deaminase-deficient patients. JAllergy Clin Immunol 2014, 133:799-806.
25. Aiuti A., Cattaneo F., Galimberti S., et al. Gene therapy for immunodeficiency due to adenosine deaminase deficiency. NEngl J Med 2009, 360:447-458.
26. Chan B., Wara D., Bastian J., et al. Long-term efficacy of enzyme replacement therapy for adenosine deaminase (ADA)-deficient severe combined immunodeficiency (SCID). Clin Immunol 2005, 117:133-143.
27. Aiuti A., Slavin S., Aker M., et al. Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning. Science 2002, 296:2410-2413.
28. Hacein-Bey-Abina S., Le Deist F., Carlier F., et al. Sustained correction of X-linked severe combined immunodeficiency by exvivo gene therapy. NEngl J Med 2002, 346:1185-1193.
29. Hacein-Bey-Abina S., Von Kalle C., Schmidt M., et al. Aserious adverse event after successful gene therapy for X-linked severe combined immunodeficiency. NEngl J Med 2003, 348:255-256.
30. Lev A., Simon A.J., Ben-Ari J., et al. Co-existence of clonal expanded autologous and transplacental-acquired maternal T cells in recombination activating gene-deficient severe combined immunodeficiency. Clin Exp Immunol 2014, 176:380-386.
31. Gil J., Busto E.M., Garcillan B., et al. Aleaky mutation in CD3D differentially affects αβ and γδ T cells and leads to a Tαβ-Tγδ+B+NK+ human SCID. JClin Invest 2011, 121:3872-3876.
32. Villa A., Sobacchi C., Notarangelo L.D. V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. Blood 2001, 97:81-88.
33. Mella P., Imberti L., Brugnoni D., et al. Development of autologous T lymphocytes in two males with X-linked severe combined immune deficiency: molecular and cellular characterization. Clin Immunol 2000, 95:39-50.
34. Brugnoni D., Notarangelo L.D., Sottini A., et al. Development of autologous, oligoclonal, poorly functioning T lymphocytes in a patient with autosomal recessive severe combined immunodeficiency caused by defects of the Jak3 tyrosine kinase. Blood 1998, 91:949-955.
35. Douek D.C., Vescio R.A., Betts M.R., et al. Assessment of thymic output in adults after haematopoietic stem-cell transplantation and prediction of T-cell reconstitution. Lancet 2000, 355:1875-1881.
36. Baker M.W., Grossman W.J., Laessig R.H., et al. Development of a routine newborn screening protocol for severe combined immunodeficiency. JAllergy Clin Immunol 2009, 124:522-527.
37. Chan K., Puck J.M. Development of population-based newborn screening for severe combined immunodeficiency. JAllergy Clin Immunol 2005, 115:391-398.
38. Morinishi Y., Imai K., Nakagawa N., et al. Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal Guthrie cards. JPediatr 2009, 155:829-833.
39. Verschuren M.C., Wolvers-Tettero I.L., Breit T.M., et al. Preferential rearrangements of the T cell receptor-delta-deleting elements in human T cells. JImmunol 1997, 158:1208-1216.
40. Routes J.M., Grossman W.J., Verbsky J., et al. Statewide newborn screening for severe T-cell lymphopenia. JAMA 2009, 302:2465-2470.
41. Comeau A.M., Hale J.E., Pai S.Y., et al. Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency. JInherit Metab Dis 2010, 33:S273-S281.
42. Vogel B.H., Bonagura V., Weinberg G.A., et al. Newborn screening for SCID in New York State: experience from the first two years. JClin Immunol 2014, 34:289-303.
43. Kwan A., Church J.A., Cowan M.J., et al. Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years. JAllergy Clin Immunol 2013, 132:140-150.
44. Accetta D.J., Brokopp C.D., Baker M.W., et al. Cause of death in neonates with inconclusive or abnormal T-cell receptor excision circle assays on newborn screening. JClin Immunol 2011, 31:962-967.
45. Verbsky J.W., Baker M.W., Grossman W.J., et al. Newborn screening for severe combined immunodeficiency; the Wisconsin experience (2008-2011). JClin Immunol 2012, 32:82-88.
46. Ambruso D.R., Knall C., Abell A.N., et al. Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation. Proc Natl Acad Sci USA 2000, 97:4654-4659.
47. Audrain M., Thomas C., Mirallie S., et al. Evaluation of the T-cell receptor excision circle assay performances for severe combined immunodeficiency neonatal screening on Guthrie cards in a French single centre study. Clin Immunol 2014, 150:137-139.
48. Chan K., Davis J., Pai S.Y., et al. AMarkov model to analyze cost-effectiveness of screening for severe combined immunodeficiency (SCID). Mol Genet Metab 2011, 104:383-389.
49. Lipstein E.A., Vorono S., Browning M.F., et al. Systematic evidence review of newborn screening and treatment of severe combined immunodeficiency. Pediatrics 2010, 125:e1226-e1235.
50. McGhee S.A., Stiehm E.R., McCabe E.R. Potential costs and benefits of newborn screening for severe combined immunodeficiency. JPediatr 2005, 147:603-608.
51. Modell V., Knaus M., Modell F. An analysis and decision tool to measure cost benefit of newborn screening for severe combined immunodeficiency (SCID) and related T-cell lymphopenia. Immunol Res 2014, 60(1):145-152.
52. Lev A., Simon A.J., Broides A., et al. Thymic function in MHC class II-deficient patients. JAllergy Clin Immunol 2013, 131:831-839.
53. Grazioli S., Bennett M., Hildebrand K.J., et al. Limitation of TREC-based newborn screening for ZAP70 severe combined immunodeficiency. Clin Immunol 2014, 153:209-210.
54. la Marca G., Canessa C., Giocaliere E., et al. Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency. JAllergy Clin Immunol 2013, 131:1604-1610.
55. Mallott J., Kwan A., Church J., et al. Newborn screening for SCID identifies patients with ataxia telangiectasia. JClin Immunol 2013, 33:540-549.
56. Borte S., von D.U., Fasth A., et al. Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR. Blood 2012, 119:2552-2555.
57. Picard C., McCarl C.A., Papolos A., et al. STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity. NEngl J Med 2009, 360:1971-1980.
58. Feske S., Gwack Y., Prakriya M., et al. Amutation in Orai1 causes immune deficiency by abrogating CRAC channel function. Nature 2006, 441:179-185.
59. van Zelm M.C., Szczepanski T., van der Burg M., et al. Replication history of B lymphocytes reveals homeostatic proliferation and extensive antigen-induced B cell expansion. JExp Med 2007, 204:645-655.
60. Tomita-Mitchell A., Mahnke D.K., Larson J.M., et al. Multiplexed quantitative real-time PCR to detect 22q11.2 deletion in patients with congenital heart disease. Physiol Genomics 2010, 42A:52-60.
61. Bales A.M., Zaleski C.A., McPherson E.W. Newborn screening programs: should 22q11 deletion syndrome be added?. Genet Med 2010, 12:135-144.
62. Verbsky J., Thakar M., Routes J. The Wisconsin approach to newborn screening for severe combined immunodeficiency. JAllergy Clin Immunol 2012, 129:622-627.
63. Lindegren M.L., Kobrynski L., Rasmussen S.A., et al. Applying public health strategies to primary immunodeficiency diseases: a potential approach to genetic disorders. MMWR Recomm Rep 2004, 53:1-29.