Send to

Choose Destination
Mol Genet Metab Rep. 2015 Dec 1;5:76-79.

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

Author information

Division of Medical Genetics, Department of Pediatrics, Box 103856, Duke University Health System, Durham, NC 27710, USA.
Department of Pathology, Box 3712, Duke University Health System, Durham, NC 27710, USA.


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.


Pompe disease; Western blot analysis; acid alpha-glucosidase; cross reactive immunological material; enzyme replacement therapy

Supplemental Content

Full text links

Icon for Elsevier Science Icon for PubMed Central
Loading ...
Support Center