Clinical laboratory experience of blood CRIM testing in infantile Pompe disease

Cross-reactive immunological material (CRIM) status is an important prognostic factor in patients with infantile Pompe disease (IPD) being treated with enzyme replacement therapy. Western blot analysis of cultured skin fibroblast lysates has been the gold standard for determining CRIM status. Here,...

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Autores principales: Bali, Deeksha S., Goldstein, Jennifer L., Rehder, Catherine, Kazi, Zoheb B., Berrier, Kathryn L., Dai, Jian, Kishnani, Priya S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4674832/
https://www.ncbi.nlm.nih.gov/pubmed/26693141
http://dx.doi.org/10.1016/j.ymgmr.2015.10.012
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author Bali, Deeksha S.
Goldstein, Jennifer L.
Rehder, Catherine
Kazi, Zoheb B.
Berrier, Kathryn L.
Dai, Jian
Kishnani, Priya S.
author_facet Bali, Deeksha S.
Goldstein, Jennifer L.
Rehder, Catherine
Kazi, Zoheb B.
Berrier, Kathryn L.
Dai, Jian
Kishnani, Priya S.
author_sort Bali, Deeksha S.
collection PubMed
description Cross-reactive immunological material (CRIM) status is an important prognostic factor in patients with infantile Pompe disease (IPD) being treated with enzyme replacement therapy. Western blot analysis of cultured skin fibroblast lysates has been the gold standard for determining CRIM status. Here, we evaluated CRIM status using peripheral blood mononuclear cell (PBMC) protein. For 6 of 33 patients (18%) CRIM status determination using PBMC was either indeterminate or discordant with GAA genotype or fibroblast CRIM analysis results. While the use of PBMCs for CRIM determination has the advantage of a faster turnaround time, further evaluation is needed to ensure the accuracy of CRIM results.
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spelling pubmed-46748322016-05-19 Clinical laboratory experience of blood CRIM testing in infantile Pompe disease Bali, Deeksha S. Goldstein, Jennifer L. Rehder, Catherine Kazi, Zoheb B. Berrier, Kathryn L. Dai, Jian Kishnani, Priya S. Mol Genet Metab Rep Short Communication Cross-reactive immunological material (CRIM) status is an important prognostic factor in patients with infantile Pompe disease (IPD) being treated with enzyme replacement therapy. Western blot analysis of cultured skin fibroblast lysates has been the gold standard for determining CRIM status. Here, we evaluated CRIM status using peripheral blood mononuclear cell (PBMC) protein. For 6 of 33 patients (18%) CRIM status determination using PBMC was either indeterminate or discordant with GAA genotype or fibroblast CRIM analysis results. While the use of PBMCs for CRIM determination has the advantage of a faster turnaround time, further evaluation is needed to ensure the accuracy of CRIM results. Elsevier 2015-11-05 /pmc/articles/PMC4674832/ /pubmed/26693141 http://dx.doi.org/10.1016/j.ymgmr.2015.10.012 Text en © 2015 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Short Communication
Bali, Deeksha S.
Goldstein, Jennifer L.
Rehder, Catherine
Kazi, Zoheb B.
Berrier, Kathryn L.
Dai, Jian
Kishnani, Priya S.
Clinical laboratory experience of blood CRIM testing in infantile Pompe disease
title Clinical laboratory experience of blood CRIM testing in infantile Pompe disease
title_full Clinical laboratory experience of blood CRIM testing in infantile Pompe disease
title_fullStr Clinical laboratory experience of blood CRIM testing in infantile Pompe disease
title_full_unstemmed Clinical laboratory experience of blood CRIM testing in infantile Pompe disease
title_short Clinical laboratory experience of blood CRIM testing in infantile Pompe disease
title_sort clinical laboratory experience of blood crim testing in infantile pompe disease
topic Short Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4674832/
https://www.ncbi.nlm.nih.gov/pubmed/26693141
http://dx.doi.org/10.1016/j.ymgmr.2015.10.012
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