Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots

Journal of Allergy and Clinical Immunology

Volumn 134, Issue 1, 2014, Pages

  La Marca, Giancarlo ^a,b   Canessa, Clementina ^a,b   Giocaliere, Elisa ^a,b   Romano, Francesca ^a,b   Malvagia, Sabrina ^a,b   Funghini, Silvia ^a,b   Moriondo, Maria ^a,b   Valleriani, Claudia ^a,b   Lippi, Francesca ^a,b   Ombrone, Daniela ^a,b   Della Bona, Maria Luisa ^a,b   Speckmann, Carsten ^c   Borte, Stephan ^d,e   Brodszki, Nicholas ^f   Gennery, Andrew R ^g   Weinacht, Katja ^h,i   Celmeli, Fatih ^j   Pagel, Julia ^k,l   De Martino, Maurizio ^a,b   Guerrini, Renzo ^a   Wittkowski, Helmut ^l   Santisteban, Ines ^m   Bali, Pawan ^m   Ikinciogullari, Aydan ⁿ   Hershfield, Michael ^m   Notarangelo, Luigi D ^h   Resti, Massimo ^a,b   Azzari, Chiara ^a,b   more..

^a UNIVERSITY OF FLORENCE   (Italy)

^b UNIVERSITY OF FLORENCE   (Italy)

^c UNIVERSITY OF FREIBURG   (Germany)

^d KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^e UNIVERSITY OF LEIPZIG   (Germany)

^f LUND UNIVERSITY HOSPITAL   (Sweden)

^g NEWCASTLE UNIVERSITY   (United Kingdom)

^h BOSTON CHILDREN S HOSPITAL   (United States)

ⁱ DANA FARBER CANCER INSTITUTE   (United States)

^j Orthopaedics and Traumatology Clinic   (Turkey)

^k UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^l UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^m DUKE UNIVERSITY   (United States)

ⁿ ANKARA UNIVERSITY   (Turkey)

more..

Author keywords

delayed onset; inherited disorder; late onset; newborn screening; Purine nucleoside phosphorylase; purine nucleoside phosphorylase combined immunodeficiency; severe combined immunodeficiency; T cell receptor excision circle; tandem mass spectrometry

Indexed keywords

DEOXYGUANOSINE; DEOXYINOSINE; GUANOSINE; INOSINE; PURINE NUCLEOSIDE PHOSPHORYLASE;

ADOLESCENT; ARTICLE; BLOOD LEVEL; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; COST BENEFIT ANALYSIS; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST ACCURACY STUDY; DRIED BLOOD SPOT TESTING; ENZYME ACTIVITY; ENZYME ASSAY; GENETIC ANALYSIS; GENOTYPE; HUMAN; IMMUNE DEFICIENCY; INFANT; KAPPA DELETING RECOMBINATION EXCISION CIRCLE; MASS SPECTROMETER; METABOLITE; NEWBORN; NEWBORN SCREENING; PATIENT IDENTIFICATION; PRIORITY JOURNAL; PURINE NUCLEOSIDE PHOSPHORYLASE COMBINED IMMUNODEFICIENCY; PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY; REFERENCE VALUE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SENSITIVITY AND SPECIFICITY; T CELL RECEPTOR EXCISION CIRCLE; TANDEM MASS SPECTROMETRY; ANALOGS AND DERIVATIVES; DEFICIENCY; DNA REPAIR; FEMALE; GENETICS; IMMUNOLOGIC DEFICIENCY SYNDROMES; LYMPHOCYTE; MALE; METABOLISM; MUTATION; PATHOLOGY; PRESCHOOL CHILD; PURINE-PYRIMIDINE METABOLISM, INBORN ERRORS;

ADOLESCENT; CHILD, PRESCHOOL; DEOXYGUANOSINE; DNA REPAIR; DRIED BLOOD SPOT TESTING; FEMALE; GUANOSINE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT; INFANT, NEWBORN; INOSINE; LYMPHOCYTES; MALE; MUTATION; NEONATAL SCREENING; PURINE-NUCLEOSIDE PHOSPHORYLASE; PURINE-PYRIMIDINE METABOLISM, INBORN ERRORS; TANDEM MASS SPECTROMETRY;

EID: 84903705060     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2014.01.040     Document Type: Article

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