Identification of an infant with severe combined immunodeficiency by newborn screening

Journal of Allergy and Clinical Immunology

Volumn 126, Issue 5, 2010, Pages 1073-1074

  Hale, Jaime E ^a   Bonilla, Francisco A ^b   Pai, Sung Yun ^b   Gerstel Thompson, Jacalyn L ^a   Notarangelo, Luigi D ^b   Eaton, Roger B ^a   Comeau, Anne Marie ^a  

^a UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

JANUS KINASE 3;

CASE REPORT; CELL MATURATION; HUMAN; LETTER; LYMPHOCYTE FUNCTION; LYMPHOCYTE PROLIFERATION; MISSENSE MUTATION; NATURAL KILLER CELL; NEWBORN; NEWBORN SCREENING; PRIORITY JOURNAL; SEVERE COMBINED IMMUNODEFICIENCY; T LYMPHOCYTE; T LYMPHOCYTE SUBPOPULATION;

EID: 78049461920     PISSN: 00916749     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jaci.2010.08.043     Document Type: Article

References (5)

1. R.H. Buckley Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution Annu Rev Immunol 22 2004 625 655
2. Comeau AM, Hale JE, Pai S-Y, Bonilla FB, Notarangelo LD, Pasternack MS, et al. Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency. J Inherit Metab Dis. In press 2010. E-pub ahead of print 20 May 2010.
3. Twentieth meeting 2010 Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children Washington (DC) Available at: http://www.hrsa.gov/heritabledisorderscommittee/meetings/2010january/ minutesjan10.htm Accessed August 19, 2010
4. J.G. Thompson, J.F. Wilkey, J.C. Baptiste, J.S. Navas, S.Y. Pai, and K.A. Pass Development of a high throughput multiplexed TREC qPCR assay with internal controls for detection of severe combined immunodeficiency in population-based newborn screening Clin Chem 56 2010 1466 1474
5. W.T. Shearer, H.M. Rosenblatt, R.S. Gelman, R. Oyomopito, S. Plaeger, and E.R. Stiehm Lymphocyte subsets in healthy children from birth through 18 years of age: the pediatric AIDS clinical trials group P1009 study J Allergy Clin Immunol 112 2003 973 980