Neonatal screening for severe combined immunodeficiency caused by an adenosine deaminase defect: A reliable and inexpensive method using tandem mass spectrometry
Adenosine deaminase (ADA)–severe combined immunodeficiency (SCID) is an SCID caused by a defect in the enzyme adenosine deaminase. It is usually fatal in infancy because of severe recurrent infections. When diagnosis is made, permanent damage caused by infections or by metabolites is often present....
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| Published in | Journal of allergy and clinical immunology Vol. 127; no. 6; pp. 1394 - 1399 |
|---|---|
| Main Authors | , , |
| Format | Journal Article |
| Language | English |
| Published |
New York, NY
Mosby, Inc
01.06.2011
Elsevier Elsevier Limited |
| Subjects | |
| Online Access | Get full text |
| ISSN | 0091-6749 1097-6825 1085-8725 1097-6825 |
| DOI | 10.1016/j.jaci.2011.03.040 |
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| Abstract | Adenosine deaminase (ADA)–severe combined immunodeficiency (SCID) is an SCID caused by a defect in the enzyme adenosine deaminase. It is usually fatal in infancy because of severe recurrent infections. When diagnosis is made, permanent damage caused by infections or by metabolites is often present. Gene therapy, bone marrow transplantation, or enzyme therapy might be effective if performed early. ADA-SCID complies with all the criteria for inclusion in a newborn screening program. However, screening methods are still expensive or provide a non-negligible number of indeterminate results.
The aim of the present study was to develop a simple, reliable, and inexpensive method for diagnosis of ADA-SCID by using dried blood spot (DBS) samples taken at birth. Cost per test was calculated, including the cost for reagents, equipment, and operators.
DBS samples from 4 patients with genetically confirmed ADA-SCID and 12,020 DBS samples from healthy newborns were examined. Adenosine and 2′-deoxyadenosine were tested by using tandem mass spectrometry (PCT EP2010/070517).
The mean levels of adenosine and 2′-deoxyadenosine were 7.8 ± 3.1 and 8.5 ± 6.0 μmol/L, respectively, in affected children; adenosine was found at 0.23 ± 0.09 μmol/L, whereas 2′-deoxyadenosine was never detected in healthy control subjects (adenosine:
P < 10
−6 [95% confidence limit, 7.59-7.78] and 2′-deoxyadenosine:
P < 10
−6 [95% confidence limit, 8.65-8.82] for control subjects vs patients with ADA-SCID). No indeterminate or false-positive results were found. Cost per test was €0.01 ($0.013). A pilot population-based newborn screening for ADA-SCID has started in Tuscany, Italy.
Tandem mass spectrometry can be used for diagnosis of one of the most frequent form of SCID at a negligible cost. |
|---|---|
| AbstractList | Adenosine deaminase (ADA)–severe combined immunodeficiency (SCID) is an SCID caused by a defect in the enzyme adenosine deaminase. It is usually fatal in infancy because of severe recurrent infections. When diagnosis is made, permanent damage caused by infections or by metabolites is often present. Gene therapy, bone marrow transplantation, or enzyme therapy might be effective if performed early. ADA-SCID complies with all the criteria for inclusion in a newborn screening program. However, screening methods are still expensive or provide a non-negligible number of indeterminate results.
The aim of the present study was to develop a simple, reliable, and inexpensive method for diagnosis of ADA-SCID by using dried blood spot (DBS) samples taken at birth. Cost per test was calculated, including the cost for reagents, equipment, and operators.
DBS samples from 4 patients with genetically confirmed ADA-SCID and 12,020 DBS samples from healthy newborns were examined. Adenosine and 2′-deoxyadenosine were tested by using tandem mass spectrometry (PCT EP2010/070517).
The mean levels of adenosine and 2′-deoxyadenosine were 7.8 ± 3.1 and 8.5 ± 6.0 μmol/L, respectively, in affected children; adenosine was found at 0.23 ± 0.09 μmol/L, whereas 2′-deoxyadenosine was never detected in healthy control subjects (adenosine:
P < 10
−6 [95% confidence limit, 7.59-7.78] and 2′-deoxyadenosine:
P < 10
−6 [95% confidence limit, 8.65-8.82] for control subjects vs patients with ADA-SCID). No indeterminate or false-positive results were found. Cost per test was €0.01 ($0.013). A pilot population-based newborn screening for ADA-SCID has started in Tuscany, Italy.
Tandem mass spectrometry can be used for diagnosis of one of the most frequent form of SCID at a negligible cost. Adenosine deaminase (ADA)-severe combined immunodeficiency (SCID) is an SCID caused by a defect in the enzyme adenosine deaminase. It is usually fatal in infancy because of severe recurrent infections. When diagnosis is made, permanent damage caused by infections or by metabolites is often present. Gene therapy, bone marrow transplantation, or enzyme therapy might be effective if performed early. ADA-SCID complies with all the criteria for inclusion in a newborn screening program. However, screening methods are still expensive or provide a non-negligible number of indeterminate results. Objective: The aim of the present study was to develop a simple, reliable, and inexpensive method for diagnosis of ADA-SCID by using dried blood spot (DBS) samples taken at birth. Cost per test was calculated, including the cost for reagents, equipment, and operators. Methods: DBS samples from 4 patients with genetically confirmed ADA-SCID and 12,020 DBS samples from healthy newborns were examined. Adenosine and 2'-deoxyadenosine were tested by using tandem mass spectrometry (PCT EP2010/070517). Results: The mean levels of adenosine and 2'-deoxyadenosine were 7.8 +/- 3.1 and 8.5 +/- 6.0 [micro]mol/L, respectively, in affected children; adenosine was found at 0.23 +/- 0.09 [micro]mol/L, whereas 2'-deoxyadenosine was never detected in healthy control subjects (adenosine: P 10[super]-6 [95% confidence limit, 7.59-7.78] and 2'-deoxyadenosine: P 10[super]-6 [95% confidence limit, 8.65-8.82] for control subjects vs patients with ADA-SCID). No indeterminate or false-positive results were found. Cost per test was [Euros]0.01 ($0.013). A pilot population-based newborn screening for ADA-SCID has started in Tuscany, Italy. Conclusion: Tandem mass spectrometry can be used for diagnosis of one of the most frequent form of SCID at a negligible cost. Adenosine deaminase (ADA)-severe combined immunodeficiency (SCID) is an SCID caused by a defect in the enzyme adenosine deaminase. It is usually fatal in infancy because of severe recurrent infections. When diagnosis is made, permanent damage caused by infections or by metabolites is often present. Gene therapy, bone marrow transplantation, or enzyme therapy might be effective if performed early. ADA-SCID complies with all the criteria for inclusion in a newborn screening program. However, screening methods are still expensive or provide a non-negligible number of indeterminate results.BACKGROUNDAdenosine deaminase (ADA)-severe combined immunodeficiency (SCID) is an SCID caused by a defect in the enzyme adenosine deaminase. It is usually fatal in infancy because of severe recurrent infections. When diagnosis is made, permanent damage caused by infections or by metabolites is often present. Gene therapy, bone marrow transplantation, or enzyme therapy might be effective if performed early. ADA-SCID complies with all the criteria for inclusion in a newborn screening program. However, screening methods are still expensive or provide a non-negligible number of indeterminate results.The aim of the present study was to develop a simple, reliable, and inexpensive method for diagnosis of ADA-SCID by using dried blood spot (DBS) samples taken at birth. Cost per test was calculated, including the cost for reagents, equipment, and operators.OBJECTIVEThe aim of the present study was to develop a simple, reliable, and inexpensive method for diagnosis of ADA-SCID by using dried blood spot (DBS) samples taken at birth. Cost per test was calculated, including the cost for reagents, equipment, and operators.DBS samples from 4 patients with genetically confirmed ADA-SCID and 12,020 DBS samples from healthy newborns were examined. Adenosine and 2'-deoxyadenosine were tested by using tandem mass spectrometry (PCT EP2010/070517).METHODSDBS samples from 4 patients with genetically confirmed ADA-SCID and 12,020 DBS samples from healthy newborns were examined. Adenosine and 2'-deoxyadenosine were tested by using tandem mass spectrometry (PCT EP2010/070517).The mean levels of adenosine and 2'-deoxyadenosine were 7.8 ± 3.1 and 8.5 ± 6.0 μmol/L, respectively, in affected children; adenosine was found at 0.23 ± 0.09 μmol/L, whereas 2'-deoxyadenosine was never detected in healthy control subjects (adenosine: P < 10(-6) [95% confidence limit, 7.59-7.78] and 2'-deoxyadenosine: P < 10(-6) [95% confidence limit, 8.65-8.82] for control subjects vs patients with ADA-SCID). No indeterminate or false-positive results were found. Cost per test was €0.01 ($0.013). A pilot population-based newborn screening for ADA-SCID has started in Tuscany, Italy.RESULTSThe mean levels of adenosine and 2'-deoxyadenosine were 7.8 ± 3.1 and 8.5 ± 6.0 μmol/L, respectively, in affected children; adenosine was found at 0.23 ± 0.09 μmol/L, whereas 2'-deoxyadenosine was never detected in healthy control subjects (adenosine: P < 10(-6) [95% confidence limit, 7.59-7.78] and 2'-deoxyadenosine: P < 10(-6) [95% confidence limit, 8.65-8.82] for control subjects vs patients with ADA-SCID). No indeterminate or false-positive results were found. Cost per test was €0.01 ($0.013). A pilot population-based newborn screening for ADA-SCID has started in Tuscany, Italy.Tandem mass spectrometry can be used for diagnosis of one of the most frequent form of SCID at a negligible cost.CONCLUSIONTandem mass spectrometry can be used for diagnosis of one of the most frequent form of SCID at a negligible cost. Adenosine deaminase (ADA)-severe combined immunodeficiency (SCID) is an SCID caused by a defect in the enzyme adenosine deaminase. It is usually fatal in infancy because of severe recurrent infections. When diagnosis is made, permanent damage caused by infections or by metabolites is often present. Gene therapy, bone marrow transplantation, or enzyme therapy might be effective if performed early. ADA-SCID complies with all the criteria for inclusion in a newborn screening program. However, screening methods are still expensive or provide a non-negligible number of indeterminate results. The aim of the present study was to develop a simple, reliable, and inexpensive method for diagnosis of ADA-SCID by using dried blood spot (DBS) samples taken at birth. Cost per test was calculated, including the cost for reagents, equipment, and operators. DBS samples from 4 patients with genetically confirmed ADA-SCID and 12,020 DBS samples from healthy newborns were examined. Adenosine and 2'-deoxyadenosine were tested by using tandem mass spectrometry (PCT EP2010/070517). The mean levels of adenosine and 2'-deoxyadenosine were 7.8 ± 3.1 and 8.5 ± 6.0 μmol/L, respectively, in affected children; adenosine was found at 0.23 ± 0.09 μmol/L, whereas 2'-deoxyadenosine was never detected in healthy control subjects (adenosine: P < 10(-6) [95% confidence limit, 7.59-7.78] and 2'-deoxyadenosine: P < 10(-6) [95% confidence limit, 8.65-8.82] for control subjects vs patients with ADA-SCID). No indeterminate or false-positive results were found. Cost per test was €0.01 ($0.013). A pilot population-based newborn screening for ADA-SCID has started in Tuscany, Italy. Tandem mass spectrometry can be used for diagnosis of one of the most frequent form of SCID at a negligible cost. Background Adenosine deaminase (ADA)–severe combined immunodeficiency (SCID) is an SCID caused by a defect in the enzyme adenosine deaminase. It is usually fatal in infancy because of severe recurrent infections. When diagnosis is made, permanent damage caused by infections or by metabolites is often present. Gene therapy, bone marrow transplantation, or enzyme therapy might be effective if performed early. ADA-SCID complies with all the criteria for inclusion in a newborn screening program. However, screening methods are still expensive or provide a non-negligible number of indeterminate results. Objective The aim of the present study was to develop a simple, reliable, and inexpensive method for diagnosis of ADA-SCID by using dried blood spot (DBS) samples taken at birth. Cost per test was calculated, including the cost for reagents, equipment, and operators. Methods DBS samples from 4 patients with genetically confirmed ADA-SCID and 12,020 DBS samples from healthy newborns were examined. Adenosine and 2′-deoxyadenosine were tested by using tandem mass spectrometry (PCT EP2010/070517). Results The mean levels of adenosine and 2′-deoxyadenosine were 7.8 ± 3.1 and 8.5 ± 6.0 μmol/L, respectively, in affected children; adenosine was found at 0.23 ± 0.09 μmol/L, whereas 2′-deoxyadenosine was never detected in healthy control subjects (adenosine: P < 10−6 [95% confidence limit, 7.59-7.78] and 2′-deoxyadenosine: P < 10−6 [95% confidence limit, 8.65-8.82] for control subjects vs patients with ADA-SCID). No indeterminate or false-positive results were found. Cost per test was €0.01 ($0.013). A pilot population-based newborn screening for ADA-SCID has started in Tuscany, Italy. Conclusion Tandem mass spectrometry can be used for diagnosis of one of the most frequent form of SCID at a negligible cost. Background Adenosine deaminase (ADA)-severe combined immunodeficiency (SCID) is an SCID caused by a defect in the enzyme adenosine deaminase. It is usually fatal in infancy because of severe recurrent infections. When diagnosis is made, permanent damage caused by infections or by metabolites is often present. Gene therapy, bone marrow transplantation, or enzyme therapy might be effective if performed early. ADA-SCID complies with all the criteria for inclusion in a newborn screening program. However, screening methods are still expensive or provide a non-negligible number of indeterminate results. Objective The aim of the present study was to develop a simple, reliable, and inexpensive method for diagnosis of ADA-SCID by using dried blood spot (DBS) samples taken at birth. Cost per test was calculated, including the cost for reagents, equipment, and operators. Methods DBS samples from 4 patients with genetically confirmed ADA-SCID and 12,020 DBS samples from healthy newborns were examined. Adenosine and 2'-deoxyadenosine were tested by using tandem mass spectrometry (PCT EP2010/070517). Results The mean levels of adenosine and 2'-deoxyadenosine were 7.8 ± 3.1 and 8.5 ± 6.0 μmol/L, respectively, in affected children; adenosine was found at 0.23 ± 0.09 μmol/L, whereas 2'-deoxyadenosine was never detected in healthy control subjects (adenosine:P < 10-6[95% confidence limit, 7.59-7.78] and 2'-deoxyadenosine:P < 10-6[95% confidence limit, 8.65-8.82] for control subjects vs patients with ADA-SCID). No indeterminate or false-positive results were found. Cost per test was &z.euro;0.01 ($0.013). A pilot population-based newborn screening for ADA-SCID has started in Tuscany, Italy. Conclusion Tandem mass spectrometry can be used for diagnosis of one of the most frequent form of SCID at a negligible cost. BACKGROUND: Adenosine deaminase (ADA)–severe combined immunodeficiency (SCID) is an SCID caused by a defect in the enzyme adenosine deaminase. It is usually fatal in infancy because of severe recurrent infections. When diagnosis is made, permanent damage caused by infections or by metabolites is often present. Gene therapy, bone marrow transplantation, or enzyme therapy might be effective if performed early. ADA-SCID complies with all the criteria for inclusion in a newborn screening program. However, screening methods are still expensive or provide a non-negligible number of indeterminate results. OBJECTIVE: The aim of the present study was to develop a simple, reliable, and inexpensive method for diagnosis of ADA-SCID by using dried blood spot (DBS) samples taken at birth. Cost per test was calculated, including the cost for reagents, equipment, and operators. METHODS: DBS samples from 4 patients with genetically confirmed ADA-SCID and 12,020 DBS samples from healthy newborns were examined. Adenosine and 2′-deoxyadenosine were tested by using tandem mass spectrometry (PCT EP2010/070517). RESULTS: The mean levels of adenosine and 2′-deoxyadenosine were 7.8 ± 3.1 and 8.5 ± 6.0 μmol/L, respectively, in affected children; adenosine was found at 0.23 ± 0.09 μmol/L, whereas 2′-deoxyadenosine was never detected in healthy control subjects (adenosine: P < 10⁻⁶ [95% confidence limit, 7.59-7.78] and 2′-deoxyadenosine: P < 10⁻⁶ [95% confidence limit, 8.65-8.82] for control subjects vs patients with ADA-SCID). No indeterminate or false-positive results were found. Cost per test was €0.01 ($0.013). A pilot population-based newborn screening for ADA-SCID has started in Tuscany, Italy. CONCLUSION: Tandem mass spectrometry can be used for diagnosis of one of the most frequent form of SCID at a negligible cost. |
| Author | la Marca, Giancarlo Resti, Massimo Azzari, Chiara |
| Author_xml | – sequence: 1 givenname: Chiara surname: Azzari fullname: Azzari, Chiara email: chiara.azzari@unifi.it organization: Department of Pediatrics, University of Florence, Florence, Italy – sequence: 2 givenname: Giancarlo surname: la Marca fullname: la Marca, Giancarlo organization: Anna Meyer Children’s University Hospital, Florence, Italy – sequence: 3 givenname: Massimo surname: Resti fullname: Resti, Massimo organization: Department of Pediatrics, University of Florence, Florence, Italy |
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| Copyright | 2011 American Academy of Allergy, Asthma & Immunology American Academy of Allergy, Asthma & Immunology 2015 INIST-CNRS Copyright © 2011 American Academy of Allergy, Asthma & Immunology. Published by Mosby, Inc. All rights reserved. Copyright Elsevier Limited Jun 2011 |
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| Keywords | tandem mass spectrometry DBS Adenosine deaminase TREC severe combined immunodeficiency newborn screening SCID ADA Dried blood spot T-cell receptor gene excision circle Human Immunopathology Neonatal Severe combined immunodeficiency Enzyme Exploration Method Medical screening Immunology Newborn Hydrolases Combined immune deficiency Mass spectrometry |
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| Snippet | Adenosine deaminase (ADA)–severe combined immunodeficiency (SCID) is an SCID caused by a defect in the enzyme adenosine deaminase. It is usually fatal in... Background Adenosine deaminase (ADA)–severe combined immunodeficiency (SCID) is an SCID caused by a defect in the enzyme adenosine deaminase. It is usually... Adenosine deaminase (ADA)-severe combined immunodeficiency (SCID) is an SCID caused by a defect in the enzyme adenosine deaminase. It is usually fatal in... Background Adenosine deaminase (ADA)-severe combined immunodeficiency (SCID) is an SCID caused by a defect in the enzyme adenosine deaminase. It is usually... BACKGROUND: Adenosine deaminase (ADA)–severe combined immunodeficiency (SCID) is an SCID caused by a defect in the enzyme adenosine deaminase. It is usually... |
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| SubjectTerms | adenosine Adenosine - blood Adenosine deaminase Adenosine Deaminase - blood Adenosine Deaminase - deficiency Agammaglobulinemia - blood Agammaglobulinemia - diagnosis Allergy and Immunology Amino acids Biological and medical sciences blood Blood Chemical Analysis - economics Blood Chemical Analysis - methods Blood Chemical Analysis - statistics & numerical data bone marrow transplant Case-Control Studies Child Child, Preschool children Costs and Cost Analysis Defects Deoxyadenosines - blood Enzymes Female Fundamental and applied biological sciences. Psychology Fundamental immunology gene therapy Humans Immune system Immunopathology immunosuppression infancy Infant Infant, Newborn Infections Italy Laboratories Male Mass spectrometry Medical sciences Medical screening Metabolism Metabolites Methods Neonatal Screening - economics Neonatal Screening - methods neonates Newborn babies newborn screening patients Pilot Projects Reproducibility of Results Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis screening Sensitivity and Specificity severe combined immunodeficiency Severe Combined Immunodeficiency - blood Severe Combined Immunodeficiency - diagnosis tandem mass spectrometry Tandem Mass Spectrometry - economics Tandem Mass Spectrometry - methods Tandem Mass Spectrometry - statistics & numerical data Urine |
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| Title | Neonatal screening for severe combined immunodeficiency caused by an adenosine deaminase defect: A reliable and inexpensive method using tandem mass spectrometry |
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