Unknown

Dataset Information

0

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

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.

SUBMITTER: Bali DS 

PROVIDER: S-EPMC4674832 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

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

Bali Deeksha S DS   Goldstein Jennifer L JL   Rehder Catherine C   Kazi Zoheb B ZB   Berrier Kathryn L KL   Dai Jian J   Kishnani Priya S PS  

Molecular genetics and metabolism reports 20151201

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 <i>GAA</i>  ...[more]

Similar Datasets

Unknown Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience.
| S-EPMC3278076 | biostudies-literature
Unknown Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease.
| S-EPMC4341007 | biostudies-literature
Unknown Successful Desensitisation in a Patient with CRIM-Positive Infantile-Onset Pompe Disease.
| S-EPMC3897801 | biostudies-literature
Unknown Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease.
| S-EPMC3711224 | biostudies-literature
Unknown A Race Against Time-Changing the Natural History of CRIM Negative Infantile Pompe Disease.
| S-EPMC7498628 | biostudies-literature
Unknown CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy.
| S-EPMC4561024 | biostudies-literature
Unknown Sustained immune tolerance induction in enzyme replacement therapy-treated CRIM-negative patients with infantile Pompe disease.
| S-EPMC5621909 | biostudies-literature
Unknown High dose IVIG successfully reduces high rhGAA IgG antibody titers in a CRIM-negative infantile Pompe disease patient.
| S-EPMC5612830 | biostudies-literature
Unknown Characterization of immune response in Cross-Reactive Immunological Material (CRIM)-positive infantile Pompe disease patients treated with enzyme replacement therapy.
| S-EPMC6518314 | biostudies-literature
Unknown Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction.
| S-EPMC8107133 | biostudies-literature