Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency

Journal of Allergy and Clinical Immunology

Volumn 131, Issue 6, 2013, Pages 1604-1610

  La Marca, Giancarlo ^a,b   Canessa, Clementina ^a,b   Giocaliere, Elisa ^a,b   Romano, Francesca ^a,b   Duse, Marzia ^c   Malvagia, Sabrina ^a,b   Lippi, Francesca ^a,b   Funghini, Silvia ^a,b   Bianchi, Leila ^a,b   Della Bona, Maria Luisa ^a,b   Valleriani, Claudia ^a,b   Ombrone, Daniela ^a,b   Moriondo, Maria ^a,b   Villanelli, Fabio ^a,b   Speckmann, Carsten ^d   Adams, Stuart ^e   Gaspar, Bobby H ^e   Hershfield, Michael ^f   Santisteban, Ines ^f   Fairbanks, Lynette ^e   Ragusa, Giovanni ^c   Resti, Massimo ^a,b   De Martino, Maurizio ^a,b   Guerrini, Renzo ^a   Azzari, Chiara ^a,b   more..

^a UNIVERSITY OF FLORENCE   (Italy)

^b UNIVERSITY OF FLORENCE   (Italy)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

^d UNIVERSITY OF FREIBURG   (Germany)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Adenosine deaminase; Adenosine deaminase severe combined immunodeficiency; delayed onset; genetics; inherited disorder; late onset; newborn screening; severe combined immunodeficiency; T cell receptor excision circle; tandem mass spectrometry

Indexed keywords

ADENOSINE; ADENOSINE DEAMINASE; DEOXYADENOSINE; T LYMPHOCYTE RECEPTOR; T LYMPHOCYTE RECEPTOR EXCISION CIRCLE; UNCLASSIFIED DRUG;

ADENOSINE DEAMINASE DEFICIENCY; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DRIED BLOOD SPOT TESTING; ENZYME ACTIVITY; ERYTHROCYTE; HUMAN; HUMAN CELL; LYMPHOCYTE PROLIFERATION; NEWBORN; NEWBORN SCREENING; PRESCHOOL CHILD; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SCHOOL CHILD; SEQUENCE ANALYSIS; SEVERE COMBINED IMMUNODEFICIENCY; TANDEM MASS SPECTROMETRY;

ADENOSINE DEAMINASE; AGAMMAGLOBULINEMIA; DEOXYADENOSINES; ENZYME ACTIVATION; ERYTHROCYTES; HUMANS; IMMUNOGLOBULINS; IMMUNOPHENOTYPING; INFANT, NEWBORN; LYMPHOCYTE SUBSETS; RECEPTORS, ANTIGEN, T-CELL; RETROSPECTIVE STUDIES; SEVERE COMBINED IMMUNODEFICIENCY; TANDEM MASS SPECTROMETRY;

EID: 84878616948     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2012.08.054     Document Type: Article

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