Clinical Laboratory Experience of Blood CRIM Testing in Infantile Pompe Disease.

Published

Journal Article

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.

Full Text

Duke Authors

Cited Authors

  • Bali, DS; Goldstein, JL; Rehder, C; Kazi, ZB; Berrier, KL; Dai, J; Kishnani, PS

Published Date

  • December 1, 2015

Published In

Volume / Issue

  • 5 /

Start / End Page

  • 76 - 79

PubMed ID

  • 26693141

Pubmed Central ID

  • 26693141

International Standard Serial Number (ISSN)

  • 2214-4269

Digital Object Identifier (DOI)

  • 10.1016/j.ymgmr.2015.10.012

Language

  • eng

Conference Location

  • United States