Newborn screening for severe combined immunodeficiency; The wisconsin experience (2008-2011)

Journal of Clinical Immunology

Volumn 32, Issue 1, 2012, Pages 82-88

  Verbsky, James W ^a,b   Baker, Mei W ^c,d   Grossman, William J ^a,e   Hintermeyer, Mary ^b   Dasu, Trivikram ^a   Bonacci, Benedetta ^a   Reddy, Sreelatha ^a   Margolis, David ^a   Casper, James ^a   Gries, Miranda ^b   DeSantes, Ken ^d   Hoffman, Gary L ^c,d   Brokopp, Charles D ^c,d   Seroogy, Christine M ^d   Routes, John M ^b  

^a MEDICAL COLLEGE OF WISCONSIN   (United States)

^b Children's Hospital and Health Systems   (United States)

^c WISCONSIN STATE LABORATORY OF HYGIENE   (United States)

^d UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

^e Children's Hospital of Wisconsin ^*

Author keywords

Lymphopenia; Newborn screening; SCID; TREC

Indexed keywords

T LYMPHOCYTE RECEPTOR; LYMPHOCYTE ANTIGEN RECEPTOR;

DIAGNOSTIC TEST; DISEASE SEVERITY; FEMALE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; INFANT; LYMPHOCYTE COUNT; LYMPHOCYTOPENIA; MAJOR CLINICAL STUDY; MALE; NEWBORN SCREENING; PREDICTIVE VALUE; PRIORITY JOURNAL; REVIEW; SENSITIVITY AND SPECIFICITY; SEVERE COMBINED IMMUNODEFICIENCY; T CELL RECEPTOR EXCISION CIRCLE ASSAY; T LYMPHOCYTE; UNITED STATES; ARTICLE; IMMUNOLOGY; IMMUNOPHENOTYPING; METABOLISM; METHODOLOGY; NEWBORN;

HUMANS; IMMUNOPHENOTYPING; INFANT, NEWBORN; LYMPHOCYTE COUNT; LYMPHOPENIA; NEONATAL SCREENING; RECEPTORS, ANTIGEN, T-CELL; SEVERE COMBINED IMMUNODEFICIENCY; T-LYMPHOCYTES; WISCONSIN;

EID: 84862249006     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-011-9609-4     Document Type: Review

References (12)

1. Puck JM. Population-based newborn screening for severe combined immunodeficiency: Steps toward implementation. J Allergy Clin Immunol. 2007;120(4):760-8. (Pubitemid 47542285)
2. Brown L, Xu-Bayford J, Allwood Z, Slatter M, Cant A, Davies EG, et al. Neonatal diagnosis of severe combined immunodefi-ciency leads to significantly improved survival outcome: The case for newborn screening. Blood. 2011;117(11):3243-6.
3. Buckley RH. Transplantation of hematopoietic stem cells in human severe combined immunodeficiency: Longterm outcomes. Immunol Res. 2011;49(13):25-43.
4. Routes JM, Grossman WJ, Verbsky J, Laessig RH, Hoffman GL, Brokopp CD, et al. Statewide newborn screening for severe T-cell lymphopenia. JAMA. 2009;302(22):2465-70.
5. Chan K, Puck JM. Development of population-based newborn screening for severe combined immunodeficiency. J Allergy Clin Immunol. 2005;115(2):391-8. (Pubitemid 40215109)
6. Baker MW, Laessig RH, Katcher ML, Routes JM, Grossman WJ, Verbsky J, et al. Implementing routine testing for severe combined immunodeficiency within Wisconsin's newborn screening program. Public Health Rep. 2010;125 (Suppl 2):88-95.
7. Baker MW, Grossman WJ, Laessig RH, Hoffman GL, Brokopp CD, Kurtycz DF, et al. Development of a routine newborn screening protocol for severe combined immunodeficiency. J Allergy Clin Immunol. 2009;124(3):522-7.
8. Douek DC, Vescio RA, Betts MR, Brenchley JM, Hill BJ, Zhang L, et al. Assessment of thymic output in adults after haematopoietic stem-cell transplantation and prediction of T-cell reconstitution. Lancet. 2000;355(9218):1875-81. (Pubitemid 30311880)
9. Accetta D, Syverson G, Bonacci B, Reddy S, Bengtson C, Surfus J, et al. Human phagocyte defect caused by a Rac2 mutation detected by means of neonatal screening for T-cell lymphopenia. J Allergy Clin Immunol. 2011;127(2):535-8.
10. Sirvent N, Monpoux F, Pedeutour F, Fraye M, Philip P, Ticchioni M, et al. Jacobsen's syndrome, thrombocytopenia and humoral immunodeficiency. Arch Pediatr. 1998;5(12):1338-40. (Pubitemid 29021432)
11. Eberle P, Berger C, Junge S, Dougoud S, Buchel EV, Riegel M, et al. Persistent low thymic activity and non-cardiac mortality in children with chromosome 22q11.2 microdeletion and partial DiGeorge syndrome. Clin Exp Immunol. 2009;155(2):189-98.
12. Griffith LM, Cowan MJ, Notarangelo LD, Puck JM, Buckley RH, Candotti F, et al. Improving cellular therapy for primary immune deficiency diseases: Recognition, diagnosis, and management. J Allergy Clin Immunol. 2009;124(6):1152-60.