Clinical Laboratory Experience of Blood CRIM Testing in Infantile Pompe Disease

Deeksha S Bali, Jennifer L Goldstein, Catherine Rehder, Zoheb B Kazi, Kathryn L Berrier, Jian Dai, Priya S Kishnani, Deeksha S Bali, Jennifer L Goldstein, Catherine Rehder, Zoheb B Kazi, Kathryn L Berrier, Jian Dai, Priya S Kishnani

Abstract

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.

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

Figures

Supplementary Fig. S1
Supplementary Fig. S1
Representative Western blot showing GAA binding patterns in PBMCs and fibroblasts. The arrow marks the 90 kDa band seen in Western blots of PBMC protein from Patients 1–5. Bands migrating above 110 kDa and below 70 kDa – outside the expected size range for GAA processing forms – were seen in some samples. We do not know the identity of these bands.

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