{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,9]],"date-time":"2026-04-09T03:40:32Z","timestamp":1775706032320,"version":"3.50.1"},"reference-count":9,"publisher":"Walter de Gruyter GmbH","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,2,23]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2021-0133_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Enzyme replacement therapy (ERT) with alglucosidase alfa (rhGAA) has changed the fatal course of infantile Pompe disease, however, development of anti rhGAA antibodies and infusion-associated reactions (IAR) restrict the tolerability and effectiveness of the treatment.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0133_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>We describe a successful concomitant immune tolerance induction (ITI) and desensitization protocols in a cross-reactive immunologic material (CRIM) negative 7-month-old male patient. At the age of 5\u00a0months and eighth dose of the ERT, the patient developed IAR and his rhGAA specific IgE was negative however, his rhGAA specific IgG titer was as high as 12,800. ITI therapy to suppress antibody formation and a desensitization protocol was devised to be given concomitantly. At the end of 5-week therapy, his fatigue and weakness improved profoundly and a control antidrug antibody level decreased at 800. At the time of the patient\u2019s follow up, he was still on ERT with desensitization at the age of 15\u00a0months without any reactions.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0133_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>This is the first report in the literature applying concomitant ITI and desensitization protocols in a CRIM negative infantile-onset Pompe disease patient successfully, hence the importance of the case.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2021-0133","type":"journal-article","created":{"date-parts":[[2021,9,25]],"date-time":"2021-09-25T02:30:38Z","timestamp":1632537038000},"page":"273-277","source":"Crossref","is-referenced-by-count":4,"title":["First successful concomitant therapy of immune tolerance induction therapy and desensitization in a CRIM-negative infantile Pompe patient"],"prefix":"10.1515","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1561-7949","authenticated-orcid":false,"given":"Merve","family":"Emecen Sanli","sequence":"first","affiliation":[{"name":"Department of Pediatric Inborn Errors of Metabolism , Faculty of Medicine, Gazi University , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hacer Ilbilge","family":"Ertoy Karagol","sequence":"additional","affiliation":[{"name":"Department of Pediatric Allergy and Immunology , Faculty of Medicine, Gazi University , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayse","family":"Kilic","sequence":"additional","affiliation":[{"name":"Department of Pediatric Inborn Errors of Metabolism , Faculty of Medicine, Gazi University , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ekin","family":"Aktasoglu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Inborn Errors of Metabolism , Faculty of Medicine, Gazi University , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0561-2060","authenticated-orcid":false,"given":"Asli","family":"Inci","sequence":"additional","affiliation":[{"name":"Department of Pediatric Inborn Errors of Metabolism , Faculty of Medicine, Gazi University , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ilyas","family":"Okur","sequence":"additional","affiliation":[{"name":"Department of Pediatric Inborn Errors of Metabolism , Faculty of Medicine, Gazi University , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatih","family":"Ezgu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Inborn Errors of Metabolism , Faculty of Medicine, Gazi University , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leyla","family":"Tumer","sequence":"additional","affiliation":[{"name":"Department of Pediatric Inborn Errors of Metabolism , Faculty of Medicine, Gazi University , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2021,9,27]]},"reference":[{"key":"2022020803263081786_j_jpem-2021-0133_ref_001","doi-asserted-by":"crossref","unstructured":"Rairikara, M, Kazia, ZB, Desaia, A, Waltersa, C, Rosenbergb, A, Kishnania, PS. High dose IVIG successfully reduces high rhGAA IgG antibody titers in a CRIM-negative infantile Pompe disease patient. Mol Genet Metabol 2017;122:76\u20139. https:\/\/doi.org\/10.1016\/j.ymgme.2017.05.006.","DOI":"10.1016\/j.ymgme.2017.05.006"},{"key":"2022020803263081786_j_jpem-2021-0133_ref_002","doi-asserted-by":"crossref","unstructured":"Nicolino, M, Byrne, B, Wraith, JE, Leslie, N, Mandel, H, Freyer, DR, et al.. Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease. Genet Med 2009;11:210\u20139. https:\/\/doi.org\/10.1097\/gim.0b013e31819d0996.","DOI":"10.1097\/GIM.0b013e31819d0996"},{"key":"2022020803263081786_j_jpem-2021-0133_ref_003","doi-asserted-by":"crossref","unstructured":"Poelman, E, Hoogeveen-Westerveld, M, van den Hout, JMP, Bredius, RGM, Lankester, AC, Driessen, GJA, et al.. Effects of immunomodulation in classic infantile Pompe patients with high antibody titers. Orphanet J Rare Dis 2019;14:71. https:\/\/doi.org\/10.1186\/s13023-019-1039-z.","DOI":"10.1186\/s13023-019-1039-z"},{"key":"2022020803263081786_j_jpem-2021-0133_ref_004","doi-asserted-by":"crossref","unstructured":"Barbier, AJ, Bielefeld, B, Whiteman, DA, Natarajan, M, Pano, A, Amato, DA. The relationship between anti-idursulfase antibody status and safety and efficacy outcomes in attenuated mucopolysaccharidosis II patients aged 5 years and older treated with intravenous idursulfase. Mol Genet Metabol 2013;110:303\u201310. https:\/\/doi.org\/10.1016\/j.ymgme.2013.08.002.","DOI":"10.1016\/j.ymgme.2013.08.002"},{"key":"2022020803263081786_j_jpem-2021-0133_ref_005","doi-asserted-by":"crossref","unstructured":"Mendelsohn, NJ, Messinger, YH, Rosenberg, AS, Kishnani, PS. Elimination of antibodies to recombinant enzyme in Pompe\u2019s disease. 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