Clinical Laboratory Experience of Blood CRIM Testing in Infantile Pompe Disease.
Publication
, Journal Article
Bali, DS; Goldstein, JL; Rehder, C; Kazi, ZB; Berrier, KL; Dai, J; Kishnani, PS
Published in: Mol Genet Metab Rep
December 1, 2015
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.
Duke Scholars
Published In
Mol Genet Metab Rep
DOI
ISSN
2214-4269
Publication Date
December 1, 2015
Volume
5
Start / End Page
76 / 79
Location
United States
Related Subject Headings
- 3202 Clinical sciences
- 3105 Genetics
- 0604 Genetics
- 0601 Biochemistry and Cell Biology
Citation
APA
Chicago
ICMJE
MLA
NLM
Bali, D. S., Goldstein, J. L., Rehder, C., Kazi, Z. B., Berrier, K. L., Dai, J., & Kishnani, P. S. (2015). Clinical Laboratory Experience of Blood CRIM Testing in Infantile Pompe Disease. Mol Genet Metab Rep, 5, 76–79. https://doi.org/10.1016/j.ymgmr.2015.10.012
Bali, Deeksha S., Jennifer L. Goldstein, Catherine Rehder, Zoheb B. Kazi, Kathryn L. Berrier, Jian Dai, and Priya S. Kishnani. “Clinical Laboratory Experience of Blood CRIM Testing in Infantile Pompe Disease.” Mol Genet Metab Rep 5 (December 1, 2015): 76–79. https://doi.org/10.1016/j.ymgmr.2015.10.012.
Bali DS, Goldstein JL, Rehder C, Kazi ZB, Berrier KL, Dai J, et al. Clinical Laboratory Experience of Blood CRIM Testing in Infantile Pompe Disease. Mol Genet Metab Rep. 2015 Dec 1;5:76–9.
Bali, Deeksha S., et al. “Clinical Laboratory Experience of Blood CRIM Testing in Infantile Pompe Disease.” Mol Genet Metab Rep, vol. 5, Dec. 2015, pp. 76–79. Pubmed, doi:10.1016/j.ymgmr.2015.10.012.
Bali DS, Goldstein JL, Rehder C, Kazi ZB, Berrier KL, Dai J, Kishnani PS. Clinical Laboratory Experience of Blood CRIM Testing in Infantile Pompe Disease. Mol Genet Metab Rep. 2015 Dec 1;5:76–79.
Published In
Mol Genet Metab Rep
DOI
ISSN
2214-4269
Publication Date
December 1, 2015
Volume
5
Start / End Page
76 / 79
Location
United States
Related Subject Headings
- 3202 Clinical sciences
- 3105 Genetics
- 0604 Genetics
- 0601 Biochemistry and Cell Biology