Clinical laboratory experience of blood CRIM testing in infantile Pompe disease
| Autor: | Kathryn L. Berrier, Zoheb B. Kazi, Jian Dai, Priya S. Kishnani, Jennifer L. Goldstein, Deeksha Bali, Catherine Rehder |
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| Rok vydání: | 2015 |
| Předmět: |
Prognostic factor
Cross reactive immunological material Short Communication Acid alpha-glucosidase CRIM cross-reactive immunological material Disease Peripheral blood mononuclear cell 03 medical and health sciences Endocrinology ITI immune tolerance induction Western blot Genotype Genetics medicine In patient lcsh:QH301-705.5 Molecular Biology 030304 developmental biology PBMCs peripheral blood mononuclear cells lcsh:R5-920 0303 health sciences medicine.diagnostic_test business.industry GAA acid alpha-glucosidase 030305 genetics & heredity Pompe disease IPD infantile Pompe disease Enzyme replacement therapy 3. Good health lcsh:Biology (General) Western blot analysis Immunology lcsh:Medicine (General) business |
| Zdroj: | Molecular Genetics and Metabolism Reports, Vol 5, Iss C, Pp 76-79 (2015) Molecular Genetics and Metabolism Reports |
| ISSN: | 2214-4269 |
| DOI: | 10.1016/j.ymgmr.2015.10.012 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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