{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:16:31Z","timestamp":1790813791517,"version":"4.1.0"},"reference-count":32,"publisher":"American Society of Hematology","issue":"26","content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2021,7,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Glycosylphosphatidylinositol (GPI) is a glycolipid that anchors &amp;gt;150 proteins to the cell surface. Pathogenic variants in several genes that participate in GPI biosynthesis cause inherited GPI deficiency disorders. Here, we reported that homozygous null alleles of PIGG, a gene involved in GPI modification, are responsible for the rare Emm-negative blood phenotype. Using a panel of K562 cells defective in both the GPI-transamidase and GPI remodeling pathways, we show that the Emm antigen, whose molecular basis has remained unknown for decades, is carried only by free GPI and that its epitope is composed of the second and third ethanolamine of the GPI backbone. Importantly, we show that the decrease in Emm expression in several inherited GPI deficiency patients is indicative of GPI defects. Overall, our findings establish Emm as a novel blood group system, and they have important implications for understanding the biological function of human free GPI.<\/jats:p>","DOI":"10.1182\/blood.2020009810","type":"journal-article","created":{"date-parts":[[2021,3,25]],"date-time":"2021-03-25T00:55:55Z","timestamp":1616633755000},"page":"3660-3669","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":30,"title":["Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disorders"],"prefix":"10.1182","volume":"137","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5785-0685","authenticated-orcid":false,"given":"Romain","family":"Duval","sequence":"first","affiliation":[{"name":"Universit\u00e9 de Paris, Unit\u00e9 Mixte de Recherche en Sant\u00e9 (UMR_S) 1134, Biologie Int\u00e9gr\u00e9e du Globule Rouge (BIGR), INSERM, Paris, France;"},{"name":"Institut National de la Transfusion Sanguine, Paris, France;"},{"name":"D\u00e9partement Centre National de R\u00e9f\u00e9rence pour les Groupes Sanguins, Etablissement Fran\u00e7ais du Sang, Ile-de-France, France;"},{"name":"Laboratoire d'Excellence GR-Ex, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1671-8274","authenticated-orcid":false,"given":"Ga\u00ebl","family":"Nicolas","sequence":"additional","affiliation":[{"name":"Laboratoire d'Excellence GR-Ex, Paris, France;"},{"name":"INSERM U1149, Centre National de la Recherche Scientifique (CNRS) \u00c9quipes de Recherche Labellis\u00e9es (ERL) 8252, Centre de Recherche sur l\u2019Inflammation, Universit\u00e9 Paris Diderot, Site Bichat, Sorbonne Paris Cit\u00e9, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Willemetz","sequence":"additional","affiliation":[{"name":"Universit\u00e9 de Paris, Unit\u00e9 Mixte de Recherche en Sant\u00e9 (UMR_S) 1134, Biologie Int\u00e9gr\u00e9e du Globule Rouge (BIGR), INSERM, Paris, France;"},{"name":"Institut National de la Transfusion Sanguine, Paris, France;"},{"name":"D\u00e9partement Centre National de R\u00e9f\u00e9rence pour les Groupes Sanguins, Etablissement Fran\u00e7ais du Sang, Ile-de-France, France;"},{"name":"Laboratoire d'Excellence GR-Ex, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshiko","family":"Murakami","sequence":"additional","affiliation":[{"name":"Research Institute for Microbial Diseases and WPI Immunology Frontier Research Center, Osaka University, Osaka, Japan;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahmoud","family":"Mikdar","sequence":"additional","affiliation":[{"name":"Universit\u00e9 de Paris, Unit\u00e9 Mixte de Recherche en Sant\u00e9 (UMR_S) 1134, Biologie Int\u00e9gr\u00e9e du Globule Rouge (BIGR), INSERM, Paris, France;"},{"name":"Institut National de la Transfusion Sanguine, Paris, 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