Treatment of infants identified as having severe combined immunodeficiency by means of newborn screening

Journal of Allergy and Clinical Immunology

Volumn 139, Issue 3, 2017, Pages 733-742

  Dorsey, Morna J ^a   Dvorak, Christopher C ^a   Cowan, Morton J ^a   Puck, Jennifer M ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

newborn screening; Severe combined immunodeficiency; T cells; T cell lymphopenia; transplantation

Indexed keywords

ADENOSINE DEAMINASE DEFICIENCY; ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION; ANEMIA; ARTICLE; AUTOLOGOUS HEMATOPOIETIC STEM CELL TRANSPLANTATION; FOLLOW UP; HUMAN; IATROGENIC DISEASE; INFANT; LYMPHOCYTOPENIA; NEWBORN SCREENING; OUTCOME ASSESSMENT; POSTNATAL DEPRESSION; POSTTRAUMATIC STRESS DISORDER; PRIORITY JOURNAL; RADIOSENSITIVITY; SEVERE COMBINED IMMUNODEFICIENCY; SOCIAL PSYCHOLOGY; SYSTEMATIC REVIEW; TREATMENT OUTCOME; NEWBORN; PARENT; PSYCHOLOGY;

HUMANS; INFANT, NEWBORN; NEONATAL SCREENING; PARENTS; SEVERE COMBINED IMMUNODEFICIENCY;

EID: 85025088675     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2017.01.005     Document Type: Article

References (35)

1. Buckley, R.H., Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. Annu Rev Immunol 22 (2004), 625–655.
2. Ochs, H.D., Puck, J.M., (eds.) Primary immunodeficiency diseases: a molecular and genetic approach, 2013, Oxford University Press, Oxford.
3. Shearer, W.T., Dunn, L.D., Notarangelo, G., Dvorak, C.C., Puck, J.M., Logan, B.R., et al. 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 (2014), 1092–1098.
4. Pai, S.Y., Logan, B.R., Griffith, L.M., Buckley, R.H., Parrott, R.E., Dvorak, C.C., et al. Transplantation outcomes for severe combined immunodeficiency, 2000-2009. N Engl J Med 371 (2014), 434–446.
5. Chan, K., Puck, J.M., Development of population-based newborn screening for severe combined immunodeficiency. J Allergy Clin Immunol 115 (2005), 391–398.
6. Morinishi, Y., Imai, K., Nakagawa, N., Sato, H., Horiuchi, K., Ohtsuka, Y., et al. Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal Guthrie cards. J Pediatr 155 (2009), 829–833.
7. Griffith, L.M., Cowan, M.J., Notarangelo, L.D., Kohn, D.B., Puck, J.M., Shearer, W.T., et al. Primary Immune Deficiency Treatment Consortium (PIDTC) update. J Allergy Clin Immunol 138 (2016), 375–385.
8. Kwan, A., Abraham, R.S., Currier, A., Brower, A., Andruszewski, K., Abbott, J.K., et al. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA 312 (2014), 729–738.
9. Kwan, A., Puck, J.M., History and current status of newborn screening for severe combined immunodeficiency. Semin Perinatol 39 (2015), 194–205.
10. Vogel, B.H., Bonagura, V., Weinberg, G.A., Ballow, M., Isabelle, J., DiAntonio, L., et al. Newborn screening for SCID in New York State: experience from the first two years. J Clin Immunol 34 (2014), 289–303.
11. Kwan, A., Church, J.A., Cowan, M.J., Agarwal, R., Kapoor, N., Kohn, D., et al. Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years. J Allergy Clin Immunol 132 (2013), 140–150.
12. Dvorak, C.C., Cowan, M.J., Logan, B.R., Notarangelo, L.D., Griffith, L.M., Puck, J.M., et al. The natural history of children with severe combined immunodeficiency: baseline features of the first fifty patients of the primary immune deficiency treatment consortium prospective study 6901. J Clin Immunol 33 (2013), 1156–1164.
13. Grunebaum, E., Cutz, E., Roifman, C.M., Pulmonary alveolar proteinosis in patients with adenosine deaminase deficiency. J Allergy Clin Immunol 129 (2012), 1588–1593.
14. Schuetz, C., Neven, B., Dvorak, C.C., Leroy, S., Ege, M., Pannicke, U., et al. SCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCID. Blood 123 (2014), 281–289.
15. Cowan, M.J., Gennery, A.R., Radiation-sensitive severe combined immunodeficiency: the arguments for and against conditioning before hematopoietic cell transplantation—what to do?. J Allergy Clin Immunol 136 (2015), 1178–1185.
16. Mezzacappa, E.S., Endicott, J., Parity mediates the association between infant feeding method and maternal depressive symptoms in the postpartum. Arch Womens Ment Health 10 (2007), 259–266.
17. Ystrom, E., Breastfeeding cessation and symptoms of anxiety and depression: a longitudinal cohort study. BMC Pregnancy Childbirth, 12, 2012, 1.
18. DeLuca, J.M., Kearney, M.H., Norton, S.A., Parents' experiences of expanded newborn screening evaluations. Pediatrics 128 (2011), 53–61.
19. Heller, K., Genetic counseling: DNA testing for the patient. Proc (Bayl Univ Med Cent) 18 (2005), 134–137.
20. Fanos, J.H., Puck, J.M., Family pictures: growing up with a brother with X-linked severe combined immunodeficiency. Am J Med Genet 98 (2001), 57–63.
21. Kuo, C.Y., Kohn, D.B., Gene therapy for the treatment of primary immune deficiencies. Curr Allergy Asthma Rep 16 (2016), 1–8.
22. Kohn, D., Gene therapy outpaces haplo for X-SCID. Blood 25 (2015), 3521–3522.
23. Hacein-Bey-Abina, S., Von Kalle, C., Schmidt, M., McCormack, M.P., Wulffraat, N., Leboulch, P., et al. LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1. Science 302 (2003), 415–419.
24. Howe, S.J., Mansour, M.R., Schwarzwaelder, K., Bartholomae, C., Hubank, M., Kempski, H., et al. Insertional mutagenesis combined with acquired somatic mutations causes leukemogenesis following gene therapy of SCID-X1 patients. J Clin Invest 118 (2008), 3143–3150.
25. Hacein-Bey-Abina, S., Pai, S.Y., Gaspar, H.B., Armant, M., Berry, C.C., Blanche, S., et al. A modified γ-retrovirus vector for X-linked severe combined immunodeficiency. N Engl J Med 371 (2014), 1407–1417.
26. Hassan, A., Booth, C., Brightwell, A., Allwood, Z., Veys, P., Rao, K., et al. Outcome of hematopoietic stem cell transplantation for adenosine deaminase–deficient severe combined immunodeficiency. Blood 120 (2012), 3615–3624.
27. Gene transfer for severe combined immunodeficiency, X-linked (SCID-X1) using a self-inactivating (SIN) gammaretroviral vector. Available at: https://clinicaltrials.gov/ct2/show/NCT01129544?term=SCID&rank=18. Accessed February 1, 2017.
28. De Ravin, S.S., Wu, X., Moir, S., Kardava, L., Anaya-O'Brien, S., Kwatemaa, N., et al. Lentiviral hematopoietic stem cell gene therapy for X-linked severe combined immunodeficiency. Sci Transl Med 8 (2016), 335–357.
29. Wahlstrom, J., Patel, K., Eckhert, E., Kong, D., Horn, B., Cowan, M.J., et al. Transplacental maternal engraftment and posttransplantation graft-versus-host disease in children with severe combined immunodeficiency. J Allergy Clin Immunol 139 (2017), 628–633.e10.
30. Savic, R.M., Cowan, M.J., Dvorak, C.C., Pai, S.Y., Pereira, L., Bartelnik, I.H., et al. Effect of weight and maturation on busulfan clearance in infants and small children undergoing hematopoietic cell transplantation. Biol Blood Marrow Transplant 19 (2013), 1608–1614.
31. Dvorak, C.C., Hassan, A., Slatter, M.A., Hönig, M., Lankester, A.C., Buckley, R.H., et al. Comparison of outcomes of hematopoietic stem cell transplantation without chemotherapy conditioning by using matched sibling and unrelated donors for treatment of severe combined immunodeficiency. J Allergy Clin Immunol 134 (2014), 935–943.
32. Dvorak, C.C., Hung, G.Y., Horn, B., Dunn, E., Oon, C.Y., Cowan, M.J., Megadose CD34+ cell grafts improve recovery of T cell engraftment but not B cell immunity in patients with severe combined immunodeficiency disease undergoing haplocompatible nonmyeloablative transplantation. Biol Blood Marrow Transplant 14 (2008), 1125–1133.
33. Dimitrova, D., Ong, P.Y., O'Gorman, M.R., Church, J.A., Major histocompatibility complex class II deficiency complicated by Mycobacterium avium complex in a boy of mixed ethnicity. J Clin Immunol 34 (2014), 677–680.
34. Wu, J.T., Roan, Y., Knight, J.A., Serum AFP levels in normal infants: their clinical and physiological significance. Alpha-fetoprotein and congenital disorders. 1985, Academic Press, New York, 111–123.
35. Patel, N.C., Hertel, P.M., Hanson, I.C., Krance, R.A., Crawford, S.E., Estes, M., et al. Chronic rotavirus infection in an infant with severe combined immunodeficiency: successful treatment by hematopoietic stem cell transplantation. Clin Immunol 142 (2012), 399–401.