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

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Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots. / la Marca, Giancarlo; Canessa, Clementina; Giocaliere, Elisa; Romano, Francesca; Malvagia, Sabrina; Funghini, Silvia; Moriondo, Maria; Valleriani, Claudia; Lippi, Francesca; Ombrone, Daniela; Della Bona, Maria Luisa; Speckmann, Carsten; Borte, Stephan; Brodszki, Nicholas; Gennery, Andrew R; Weinacht, Katja; Celmeli, Fatih; Pagel, Julia; de Martino, Maurizio; Guerrini, Renzo; Wittkowski, Helmut; Santisteban, Ines; Bali, Pawan; Ikinciogullari, Aydan; Hershfield, Michael; Notarangelo, Luigi D; Resti, Massimo; Azzari, Chiara.

In: J ALLERGY CLIN IMMUN, Vol. 134, No. 1, 07.2014, p. 155-9.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

la Marca, G, Canessa, C, Giocaliere, E, Romano, F, Malvagia, S, Funghini, S, Moriondo, M, Valleriani, C, Lippi, F, Ombrone, D, Della Bona, ML, Speckmann, C, Borte, S, Brodszki, N, Gennery, AR, Weinacht, K, Celmeli, F, Pagel, J, de Martino, M, Guerrini, R, Wittkowski, H, Santisteban, I, Bali, P, Ikinciogullari, A, Hershfield, M, Notarangelo, LD, Resti, M & Azzari, C 2014, 'Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots', J ALLERGY CLIN IMMUN, vol. 134, no. 1, pp. 155-9. https://doi.org/10.1016/j.jaci.2014.01.040

APA

la Marca, G., Canessa, C., Giocaliere, E., Romano, F., Malvagia, S., Funghini, S., Moriondo, M., Valleriani, C., Lippi, F., Ombrone, D., Della Bona, M. L., Speckmann, C., Borte, S., Brodszki, N., Gennery, A. R., Weinacht, K., Celmeli, F., Pagel, J., de Martino, M., ... Azzari, C. (2014). Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots. J ALLERGY CLIN IMMUN, 134(1), 155-9. https://doi.org/10.1016/j.jaci.2014.01.040

Vancouver

la Marca G, Canessa C, Giocaliere E, Romano F, Malvagia S, Funghini S et al. Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots. J ALLERGY CLIN IMMUN. 2014 Jul;134(1):155-9. https://doi.org/10.1016/j.jaci.2014.01.040

Bibtex

@article{9c17b79f4ebb4d6a8bb996c6ce1c586e,
title = "Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots",
abstract = "BACKGROUND: Purine nucleoside phosphorylase (PNP) deficiency is a rare form of autosomal recessive combined primary immunodeficiency caused by a enzyme defect leading to the accumulation of inosine, 2'-deoxy-inosine (dIno), guanosine, and 2'-deoxy-guanosine (dGuo) in all cells, especially lymphocytes. Treatments are available and curative for PNP deficiency, but their efficacy depends on the early approach. PNP-combined immunodeficiency complies with the criteria for inclusion in a newborn screening program.OBJECTIVE: This study evaluate whether mass spectrometry can identify metabolite abnormalities in dried blood spots (DBSs) from affected patients, with the final goal of individuating the disease at birth during routine newborn screening.METHODS: DBS samples from 9 patients with genetically confirmed PNP-combined immunodeficiency, 10,000 DBS samples from healthy newborns, and 240 DBSs from healthy donors of different age ranges were examined. Inosine, dIno, guanosine, and dGuo were tested by using tandem mass spectrometry (TMS). T-cell receptor excision circle (TREC) and kappa-deleting recombination excision circle (KREC) levels were evaluated by using quantitative RT-PCR only for the 2 patients (patients 8 and 9) whose neonatal DBSs were available.RESULTS: Mean levels of guanosine, inosine, dGuo, and dIno were 4.4, 133.3, 3.6, and 3.8 μmol/L, respectively, in affected patients. No indeterminate or false-positive results were found. In patient 8 TREC levels were borderline and KREC levels were abnormal; in patient 9 TRECs were undetectable, whereas KREC levels were normal.CONCLUSION: TMS is a valid method for diagnosis of PNP deficiency on DBSs of affected patients at a negligible cost. TMS identifies newborns with PNP deficiency, whereas TREC or KREC measurement alone can fail.",
keywords = "Adolescent, Child, Preschool, DNA Repair, Deoxyguanosine/analysis, Dried Blood Spot Testing, Female, Guanosine/analysis, Humans, Immunologic Deficiency Syndromes/diagnosis, Infant, Infant, Newborn, Inosine/analogs & derivatives, Lymphocytes/pathology, Male, Mutation, Neonatal Screening, Primary Immunodeficiency Diseases, Purine-Nucleoside Phosphorylase/deficiency, Purine-Pyrimidine Metabolism, Inborn Errors/diagnosis, Tandem Mass Spectrometry",
author = "{la Marca}, Giancarlo and Clementina Canessa and Elisa Giocaliere and Francesca Romano and Sabrina Malvagia and Silvia Funghini and Maria Moriondo and Claudia Valleriani and Francesca Lippi and Daniela Ombrone and {Della Bona}, {Maria Luisa} and Carsten Speckmann and Stephan Borte and Nicholas Brodszki and Gennery, {Andrew R} and Katja Weinacht and Fatih Celmeli and Julia Pagel and {de Martino}, Maurizio and Renzo Guerrini and Helmut Wittkowski and Ines Santisteban and Pawan Bali and Aydan Ikinciogullari and Michael Hershfield and Notarangelo, {Luigi D} and Massimo Resti and Chiara Azzari",
note = "Copyright {\textcopyright} 2014 American Academy of Allergy, Asthma & Immunology. Published by Mosby, Inc. All rights reserved.",
year = "2014",
month = jul,
doi = "10.1016/j.jaci.2014.01.040",
language = "English",
volume = "134",
pages = "155--9",
journal = "J ALLERGY CLIN IMMUN",
issn = "0091-6749",
publisher = "Mosby Inc.",
number = "1",

}

RIS

TY - JOUR

T1 - Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots

AU - la Marca, Giancarlo

AU - Canessa, Clementina

AU - Giocaliere, Elisa

AU - Romano, Francesca

AU - Malvagia, Sabrina

AU - Funghini, Silvia

AU - Moriondo, Maria

AU - Valleriani, Claudia

AU - Lippi, Francesca

AU - Ombrone, Daniela

AU - Della Bona, Maria Luisa

AU - Speckmann, Carsten

AU - Borte, Stephan

AU - Brodszki, Nicholas

AU - Gennery, Andrew R

AU - Weinacht, Katja

AU - Celmeli, Fatih

AU - Pagel, Julia

AU - de Martino, Maurizio

AU - Guerrini, Renzo

AU - Wittkowski, Helmut

AU - Santisteban, Ines

AU - Bali, Pawan

AU - Ikinciogullari, Aydan

AU - Hershfield, Michael

AU - Notarangelo, Luigi D

AU - Resti, Massimo

AU - Azzari, Chiara

N1 - Copyright © 2014 American Academy of Allergy, Asthma & Immunology. Published by Mosby, Inc. All rights reserved.

PY - 2014/7

Y1 - 2014/7

N2 - BACKGROUND: Purine nucleoside phosphorylase (PNP) deficiency is a rare form of autosomal recessive combined primary immunodeficiency caused by a enzyme defect leading to the accumulation of inosine, 2'-deoxy-inosine (dIno), guanosine, and 2'-deoxy-guanosine (dGuo) in all cells, especially lymphocytes. Treatments are available and curative for PNP deficiency, but their efficacy depends on the early approach. PNP-combined immunodeficiency complies with the criteria for inclusion in a newborn screening program.OBJECTIVE: This study evaluate whether mass spectrometry can identify metabolite abnormalities in dried blood spots (DBSs) from affected patients, with the final goal of individuating the disease at birth during routine newborn screening.METHODS: DBS samples from 9 patients with genetically confirmed PNP-combined immunodeficiency, 10,000 DBS samples from healthy newborns, and 240 DBSs from healthy donors of different age ranges were examined. Inosine, dIno, guanosine, and dGuo were tested by using tandem mass spectrometry (TMS). T-cell receptor excision circle (TREC) and kappa-deleting recombination excision circle (KREC) levels were evaluated by using quantitative RT-PCR only for the 2 patients (patients 8 and 9) whose neonatal DBSs were available.RESULTS: Mean levels of guanosine, inosine, dGuo, and dIno were 4.4, 133.3, 3.6, and 3.8 μmol/L, respectively, in affected patients. No indeterminate or false-positive results were found. In patient 8 TREC levels were borderline and KREC levels were abnormal; in patient 9 TRECs were undetectable, whereas KREC levels were normal.CONCLUSION: TMS is a valid method for diagnosis of PNP deficiency on DBSs of affected patients at a negligible cost. TMS identifies newborns with PNP deficiency, whereas TREC or KREC measurement alone can fail.

AB - BACKGROUND: Purine nucleoside phosphorylase (PNP) deficiency is a rare form of autosomal recessive combined primary immunodeficiency caused by a enzyme defect leading to the accumulation of inosine, 2'-deoxy-inosine (dIno), guanosine, and 2'-deoxy-guanosine (dGuo) in all cells, especially lymphocytes. Treatments are available and curative for PNP deficiency, but their efficacy depends on the early approach. PNP-combined immunodeficiency complies with the criteria for inclusion in a newborn screening program.OBJECTIVE: This study evaluate whether mass spectrometry can identify metabolite abnormalities in dried blood spots (DBSs) from affected patients, with the final goal of individuating the disease at birth during routine newborn screening.METHODS: DBS samples from 9 patients with genetically confirmed PNP-combined immunodeficiency, 10,000 DBS samples from healthy newborns, and 240 DBSs from healthy donors of different age ranges were examined. Inosine, dIno, guanosine, and dGuo were tested by using tandem mass spectrometry (TMS). T-cell receptor excision circle (TREC) and kappa-deleting recombination excision circle (KREC) levels were evaluated by using quantitative RT-PCR only for the 2 patients (patients 8 and 9) whose neonatal DBSs were available.RESULTS: Mean levels of guanosine, inosine, dGuo, and dIno were 4.4, 133.3, 3.6, and 3.8 μmol/L, respectively, in affected patients. No indeterminate or false-positive results were found. In patient 8 TREC levels were borderline and KREC levels were abnormal; in patient 9 TRECs were undetectable, whereas KREC levels were normal.CONCLUSION: TMS is a valid method for diagnosis of PNP deficiency on DBSs of affected patients at a negligible cost. TMS identifies newborns with PNP deficiency, whereas TREC or KREC measurement alone can fail.

KW - Adolescent

KW - Child, Preschool

KW - DNA Repair

KW - Deoxyguanosine/analysis

KW - Dried Blood Spot Testing

KW - Female

KW - Guanosine/analysis

KW - Humans

KW - Immunologic Deficiency Syndromes/diagnosis

KW - Infant

KW - Infant, Newborn

KW - Inosine/analogs & derivatives

KW - Lymphocytes/pathology

KW - Male

KW - Mutation

KW - Neonatal Screening

KW - Primary Immunodeficiency Diseases

KW - Purine-Nucleoside Phosphorylase/deficiency

KW - Purine-Pyrimidine Metabolism, Inborn Errors/diagnosis

KW - Tandem Mass Spectrometry

U2 - 10.1016/j.jaci.2014.01.040

DO - 10.1016/j.jaci.2014.01.040

M3 - SCORING: Journal article

C2 - 24767876

VL - 134

SP - 155

EP - 159

JO - J ALLERGY CLIN IMMUN

JF - J ALLERGY CLIN IMMUN

SN - 0091-6749

IS - 1

ER -