Limitation of TREC-based newborn screening for ZAP70 Severe Combined Immunodeficiency

Clinical Immunology

Volumn 153, Issue 1, 2014, Pages 209-210

  Grazioli, Serge ^a   Bennett, Mary ^a   Hildebrand, Kyla J ^b   Vallance, Hilary ^c   Turvey, Stuart E ^b   Junker, Anne K ^b  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^c BC CHILDREN S HOSPITAL   (Canada)

Author keywords

Newborn; SCID; TREC; ZAP70

Indexed keywords

PROTEIN KINASE ZAP 70; T CELL RECEPTOR EXCISION CIRCLE; T LYMPHOCYTE RECEPTOR; UNCLASSIFIED DRUG;

ADULT RESPIRATORY DISTRESS SYNDROME; CASE REPORT; GENE MUTATION; GENE SEQUENCE; HUMAN; INFANT; LABORATORY TEST; LETTER; MALE; NEWBORN SCREENING; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; RHINOVIRUS; RHINOVIRUS INFECTION; SEVERE COMBINED IMMUNODEFICIENCY; T LYMPHOCYTE; VIRUS PNEUMONIA;

NEWBORN; SCID; TREC; ZAP70;

HUMANS; INFANT, NEWBORN; MALE; MUTATION; NEONATAL SCREENING; RECEPTORS, ANTIGEN, T-CELL; SEVERE COMBINED IMMUNODEFICIENCY; ZAP-70 PROTEIN-TYROSINE KINASE;

EID: 84901001127     PISSN: 15216616     EISSN: 15217035     Source Type: Journal    
DOI: 10.1016/j.clim.2014.04.015     Document Type: Letter

References (9)

1. Hazenberg M.D., Otto S.A., Cohen Stuart J.W., Verschuren M.C., Borleffs J.C., Boucher C.A., Coutinho R.A., Lange J.M., Rinke de Wit T.F., Tsegaye A., van Dongen J.J., Hamann D., de Boer R.J., Miedema F. Increased cell division but not thymic dysfunction rapidly affects the T-cell receptor excision circle content of the naive T cell population in HIV-1 infection. Nat. Med. 2000, 6:1036-1042.
2. Chen X., Barfield R., Benaim E., Leung W., Knowles J., Lawrence D., Otto M., Shurtleff S.A., Neale G.A., Behm F.G., Turner V., Handgretinger R. Prediction of T-cell reconstitution by assessment of T-cell receptor excision circle before allogeneic hematopoietic stem cell transplantation in pediatric patients. Blood 2005, 105:886-893.
3. Chase N.M., Verbsky J.W., Routes J.M. Newborn screening for SCID: three years of experience. Ann. N. Y. Acad. Sci. 2011, 1238:99-105.
4. Kwan A., Church J.A., Cowan M.J., Agarwal R., Kapoor N., Kohn D.B., Lewis D.B., McGhee S.A., Moore T.B., Stiehm E.R., Porteus M., Aznar C.P., Currier R., Lorey F., Puck J.M. Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2years. J. Allergy Clin. Immunol. 2013, 132:140-150.
5. Verbsky J., Thakar M., Routes J. The Wisconsin approach to newborn screening for severe combined immunodeficiency. J. Allergy Clin. Immunol. 2012, 129:622-627.
6. Hale J.E., Bonilla F.A., Pai S.Y., Gerstel-Thompson J.L., Notarangelo L.D., Eaton R.B., Comeau A.M. Identification of an infant with severe combined immunodeficiency by newborn screening. J. Allergy Clin. Immunol. 2010, 126:1073-1074.
7. Roifman C.M., Somech R., Kavadas F., Pires Linda, Nahum Amit, Dalal Ilan, Grunebaum Eyal Defining combined immunodeficiency. J. Allergy Clin. Immunol. 2012, 130:177-183.
8. + thymic selection in humans lacking zap-70 kinase. Cell 1994, 76:947-958.
9. Hong-Diep Kim Vy, Murguia Luis, Schechter Tal, Grunebaum Eyal, Roifman C.M. Emergency treatment for zeta chain-associated protein of 70kDa (ZAP70) deficiency. J. Allergy Clin. Immunol. 2013, 131:1233-1235.