{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T09:28:52Z","timestamp":1790155732146,"version":"4.0.1"},"reference-count":49,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2012,1,17]],"date-time":"2012-01-17T00:00:00Z","timestamp":1326758400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2012,2,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Enzyme replacement therapy (ERT) for Pompe disease using recombinant acid alpha\u2010glucosidase (rhGAA) has resulted in increased survival although the clinical response is variable. Cross\u2010reactive immunological material (CRIM)\u2010negative status has been recognized as a poor prognostic factor. CRIM\u2010negative patients make no GAA protein and develop sustained high antibody titers to ERT that render the treatment ineffective. Antibody titers are generally low for the majority of CRIM\u2010positive patients and there is typically a better clinical outcome. Because immunomodulation has been found to be most effective in CRIM\u2010negative patients prior to, or shortly after, initiation of ERT, knowledge of CRIM status is important before ERT is begun. We have analyzed 243 patients with infantile Pompe disease using a Western blot method for determining CRIM status and using cultured skin fibroblasts. Sixty\u2010one out of 243 (25.1%) patients tested from various ethnic backgrounds were found to be CRIM\u2010negative. We then correlated the CRIM results with <jats:italic>GAA<\/jats:italic> gene mutations where available (52 CRIM\u2010negative and 88 CRIM\u2010positive patients). We found that, in most cases, CRIM status can be predicted from <jats:italic>GAA<\/jats:italic> mutations, potentially circumventing the need for invasive skin biopsy and time wasted in culturing cells in the future. Continued studies in this area will help to increase the power of <jats:italic>GAA<\/jats:italic> gene mutations in predicting CRIM status as well as possibly identifying CRIM\u2010positive patients who are at risk for developing high antibody titers. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.c.31319","type":"journal-article","created":{"date-parts":[[2012,1,17]],"date-time":"2012-01-17T15:57:36Z","timestamp":1326815856000},"page":"40-49","source":"Crossref","is-referenced-by-count":116,"title":["Predicting cross\u2010reactive immunological material (CRIM) status in Pompe disease using <i>GAA<\/i> mutations: Lessons learned from 10 years of clinical laboratory testing experience"],"prefix":"10.1002","volume":"160C","author":[{"given":"Deeksha S.","family":"Bali","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer L.","family":"Goldstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suhrad","family":"Banugaria","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian","family":"Dai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanne","family":"Mackey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Rehder","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Priya S.","family":"Kishnani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,1,17]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200103000-00008"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2005.00557.x"},{"key":"e_1_2_7_4_1","article-title":"Enzyme Replacement therapy for Pompe disease","author":"Angelini C","year":"2011","journal-title":"Curr Neurol Neurosci Rep."},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1996.tb03801.x"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21933"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3182174703"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1998)11:5<413::AID-HUMU16>3.0.CO;2-I"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-005-0243-y"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9206-3"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2008-3667"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-008-1000-0"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2007.04.018"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj2890687"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.12.2213"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10286"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1998)11:3<209::AID-HUMU5>3.0.CO;2-C"},{"key":"e_1_2_7_18_1","first-page":"3389","volume-title":"The metabolic and molecular bases of inherited disease","author":"Hirschhorn R","year":"2001"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.12.2231"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1998.8255"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1086\/339691"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2003-0988-L"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2007-0388"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2006.02.035"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000218152.87434.f3"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000251268.41188.04"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2009.08.003"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2004.10.009"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20745"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.55.8.1122"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2007.07.006"},{"key":"e_1_2_7_32_1","unstructured":"McVie\u2010WylieA LoweryM FaulknerE LamsonD ChenYT.2001.GSD type II: Description of four novel mutations causing acid alpha\u2010glucosidase deficiency. 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