{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T15:14:16Z","timestamp":1784042056068,"version":"3.55.0"},"reference-count":81,"publisher":"American Association for the Advancement of Science (AAAS)","issue":"37","content-domain":{"domain":["www.science.org"],"crossmark-restriction":true},"short-container-title":["Sci. Adv."],"published-print":{"date-parts":[[2024,9,13]]},"abstract":"<jats:p>\n            Inositol 1,4,5-trisphosphate (IP3) receptor type 1 (\n            <jats:italic>ITPR1<\/jats:italic>\n            ),\n            <jats:italic>2<\/jats:italic>\n            (\n            <jats:italic>ITPR2<\/jats:italic>\n            ), and\n            <jats:italic>3<\/jats:italic>\n            (\n            <jats:italic>ITPR3<\/jats:italic>\n            ) encode the IP3 receptor (IP3R), a key player in intracellular calcium release. In four unrelated patients, we report that an identical\n            <jats:italic>ITPR3<\/jats:italic>\n            de novo variant\u2014NM_002224.3:c.7570C&gt;T, p.Arg2524Cys\u2014causes, through a dominant-negative effect, a complex multisystemic disorder with immunodeficiency. This leads to defective calcium homeostasis, mitochondrial malfunction, CD4\n            <jats:sup>+<\/jats:sup>\n            lymphopenia, a quasi-absence of na\u00efve CD4\n            <jats:sup>+<\/jats:sup>\n            and CD8\n            <jats:sup>+<\/jats:sup>\n            cells, an increase in memory cells, and a distinct TCR repertoire. The calcium defect was recapitulated in Jurkat knock-in. Site-directed mutagenesis displayed the exquisite sensitivity of Arg\n            <jats:sup>2524<\/jats:sup>\n            to any amino acid change. Despite the fact that all patients had severe immunodeficiency, they also displayed variable multisystemic involvements, including ectodermal dysplasia, Charcot-Marie-Tooth disease, short stature, and bone marrow failure. In conclusion, unlike previously reported\n            <jats:italic>ITPR1-3<\/jats:italic>\n            deficiencies leading to narrow, mainly neurological phenotypes, a recurrent dominant\n            <jats:italic>ITPR3<\/jats:italic>\n            variant leads to a multisystemic disease, defining a unique role for IP3R3 in the tetrameric IP3R complex.\n          <\/jats:p>","DOI":"10.1126\/sciadv.ado5545","type":"journal-article","created":{"date-parts":[[2024,9,13]],"date-time":"2024-09-13T17:59:31Z","timestamp":1726250371000},"update-policy":"https:\/\/doi.org\/10.34133\/aaas_crossmark","source":"Crossref","is-referenced-by-count":6,"title":["A pleiotropic recurrent dominant\n            <i>ITPR3<\/i>\n            variant causes a complex multisystemic disease"],"prefix":"10.1126","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1646-2325","authenticated-orcid":true,"given":"Anne","family":"Molitor","sequence":"first","affiliation":[{"name":"Laboratoire d\u2019ImmunoRhumatologie Mol\u00e9culaire, Institut national de la sant\u00e9 et de la recherche m\u00e9dicale (INSERM) UMR_S 1109, Plateforme GENOMAX, Centre de Recherche d\u2019Immunologie et d\u2019H\u00e9matologie and Centre de Recherche en Biom\u00e9decine de Strasbourg (CRBS), Facult\u00e9 de M\u00e9decine, F\u00e9d\u00e9ration Hospitalo-Universitaire OMICARE, F\u00e9d\u00e9ration de M\u00e9decine Translationnelle de Strasbourg (FMTS), Universit\u00e9 de Strasbourg, Strasbourg, France."},{"name":"Institut Th\u00e9matique Interdisciplinaire (ITI) Transplantex NG de M\u00e9decine de Pr\u00e9cision de Strasbourg, Facult\u00e9 de M\u00e9decine, Universit\u00e9 de Strasbourg, Strasbourg, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0187-4645","authenticated-orcid":true,"given":"Alexandre","family":"Lederle","sequence":"additional","affiliation":[{"name":"Laboratoire d\u2019ImmunoRhumatologie Mol\u00e9culaire, Institut national de la sant\u00e9 et de la recherche m\u00e9dicale (INSERM) UMR_S 1109, Plateforme GENOMAX, Centre de Recherche d\u2019Immunologie et d\u2019H\u00e9matologie and Centre de Recherche en Biom\u00e9decine de Strasbourg (CRBS), Facult\u00e9 de M\u00e9decine, F\u00e9d\u00e9ration Hospitalo-Universitaire OMICARE, F\u00e9d\u00e9ration de M\u00e9decine Translationnelle de Strasbourg (FMTS), Universit\u00e9 de Strasbourg, Strasbourg, France."},{"name":"Institut Th\u00e9matique Interdisciplinaire (ITI) Transplantex NG de M\u00e9decine de Pr\u00e9cision de Strasbourg, Facult\u00e9 de M\u00e9decine, Universit\u00e9 de Strasbourg, Strasbourg, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3925-0640","authenticated-orcid":true,"given":"Mirjana","family":"Radosavljevic","sequence":"additional","affiliation":[{"name":"Laboratoire d\u2019ImmunoRhumatologie Mol\u00e9culaire, Institut national de la sant\u00e9 et de la recherche m\u00e9dicale (INSERM) UMR_S 1109, Plateforme GENOMAX, Centre de Recherche d\u2019Immunologie et d\u2019H\u00e9matologie and Centre de Recherche en Biom\u00e9decine de Strasbourg (CRBS), Facult\u00e9 de M\u00e9decine, F\u00e9d\u00e9ration Hospitalo-Universitaire OMICARE, F\u00e9d\u00e9ration de M\u00e9decine Translationnelle de Strasbourg (FMTS), Universit\u00e9 de Strasbourg, Strasbourg, France."},{"name":"Institut Th\u00e9matique Interdisciplinaire (ITI) Transplantex NG de M\u00e9decine de Pr\u00e9cision de Strasbourg, Facult\u00e9 de M\u00e9decine, Universit\u00e9 de Strasbourg, Strasbourg, France."},{"name":"Laboratoire d\u2019Immunologie, Plateau Technique de Biologie, P\u00f4le de Biologie, Nouvel H\u00f4pital Civil, H\u00f4pitaux Universitaires de Strasbourg, Strasbourg, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9699-6126","authenticated-orcid":true,"given":"Vinay","family":"Sapuru","sequence":"additional","affiliation":[{"name":"Structural Biology Program, Memorial Sloan Kettering Cancer Center, New York, NY, USA."},{"name":"Physiology, Biophysics, and Systems Biology (PBSB) Program, Weill Cornell Graduate School of Biomedical Sciences, New York, NY, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-4825-8168","authenticated-orcid":true,"given":"Megan E.","family":"Zavorka Thomas","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Nationwide Children\u2019s Hospital, Columbus, OH, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8197-5413","authenticated-orcid":true,"given":"Jianying","family":"Yang","sequence":"additional","affiliation":[{"name":"Laboratoire d\u2019ImmunoRhumatologie Mol\u00e9culaire, Institut national de la sant\u00e9 et de la recherche m\u00e9dicale (INSERM) UMR_S 1109, Plateforme GENOMAX, Centre de Recherche d\u2019Immunologie et d\u2019H\u00e9matologie and Centre de Recherche en Biom\u00e9decine de Strasbourg (CRBS), Facult\u00e9 de M\u00e9decine, F\u00e9d\u00e9ration Hospitalo-Universitaire OMICARE, F\u00e9d\u00e9ration de M\u00e9decine Translationnelle de Strasbourg (FMTS), Universit\u00e9 de Strasbourg, Strasbourg, France."},{"name":"Institut Th\u00e9matique Interdisciplinaire (ITI) Transplantex NG de M\u00e9decine de Pr\u00e9cision de Strasbourg, Facult\u00e9 de M\u00e9decine, Universit\u00e9 de Strasbourg, Strasbourg, 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en Biom\u00e9decine de Strasbourg (CRBS), Facult\u00e9 de M\u00e9decine, F\u00e9d\u00e9ration Hospitalo-Universitaire OMICARE, F\u00e9d\u00e9ration de M\u00e9decine Translationnelle de Strasbourg (FMTS), Universit\u00e9 de Strasbourg, Strasbourg, France."},{"name":"Institut Th\u00e9matique Interdisciplinaire (ITI) Transplantex NG de M\u00e9decine de Pr\u00e9cision de Strasbourg, Facult\u00e9 de M\u00e9decine, Universit\u00e9 de Strasbourg, Strasbourg, France."},{"name":"Laboratoire d\u2019Immunologie, Plateau Technique de Biologie, P\u00f4le de Biologie, Nouvel H\u00f4pital Civil, H\u00f4pitaux Universitaires de Strasbourg, Strasbourg, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1215-9436","authenticated-orcid":true,"given":"V\u00e9ronique","family":"Rolli","sequence":"additional","affiliation":[{"name":"Laboratoire d\u2019ImmunoRhumatologie Mol\u00e9culaire, Institut national de la sant\u00e9 et de la recherche m\u00e9dicale (INSERM) UMR_S 1109, Plateforme GENOMAX, Centre de Recherche d\u2019Immunologie et d\u2019H\u00e9matologie and Centre de Recherche en Biom\u00e9decine de Strasbourg (CRBS), Facult\u00e9 de M\u00e9decine, F\u00e9d\u00e9ration Hospitalo-Universitaire OMICARE, F\u00e9d\u00e9ration de M\u00e9decine Translationnelle de Strasbourg (FMTS), Universit\u00e9 de Strasbourg, Strasbourg, France."},{"name":"Institut Th\u00e9matique Interdisciplinaire (ITI) Transplantex NG de M\u00e9decine de Pr\u00e9cision de Strasbourg, Facult\u00e9 de M\u00e9decine, Universit\u00e9 de Strasbourg, Strasbourg, France."},{"name":"Laboratoire d\u2019Immunologie, Plateau Technique de Biologie, P\u00f4le de Biologie, Nouvel H\u00f4pital Civil, H\u00f4pitaux Universitaires de Strasbourg, Strasbourg, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3991-753X","authenticated-orcid":true,"given":"Pierre","family":"Grenot","sequence":"additional","affiliation":[{"name":"Laboratoire d\u2019ImmunoRhumatologie Mol\u00e9culaire, Institut national de la sant\u00e9 et de la recherche m\u00e9dicale (INSERM) UMR_S 1109, Plateforme GENOMAX, Centre de Recherche d\u2019Immunologie et d\u2019H\u00e9matologie and Centre de Recherche en Biom\u00e9decine de Strasbourg (CRBS), Facult\u00e9 de M\u00e9decine, F\u00e9d\u00e9ration Hospitalo-Universitaire OMICARE, F\u00e9d\u00e9ration de M\u00e9decine Translationnelle de Strasbourg (FMTS), Universit\u00e9 de Strasbourg, Strasbourg, France."},{"name":"Institut Th\u00e9matique Interdisciplinaire (ITI) Transplantex NG de M\u00e9decine de Pr\u00e9cision de Strasbourg, Facult\u00e9 de M\u00e9decine, Universit\u00e9 de Strasbourg, Strasbourg, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2689-9072","authenticated-orcid":true,"given":"Carla Noemi","family":"Castro","sequence":"additional","affiliation":[{"name":"Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center\u2013University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5312-6203","authenticated-orcid":true,"given":"Michelle","family":"Rosenzwajg","sequence":"additional","affiliation":[{"name":"Assistance Publique H\u00f4pitaux de Paris, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, Clinical Investigation Center for Biotherapies (CIC-BTi) and Immunology-Inflammation-Infectiology and Dermatology Department (3iD), Paris, France."},{"name":"Sorbonne Universit\u00e9, INSERM UMR_S 959, Immunology-Immunopathology-Immunotherapy (i3), Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elyssa G.","family":"Lewis","sequence":"additional","affiliation":[{"name":"Norton Children\u2019s Medical Group, University of Louisville School of Medicine, Louisville, KY, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-1063-6661","authenticated-orcid":true,"given":"Richard","family":"Person","sequence":"additional","affiliation":[{"name":"GeneDx, Gaithersburg, MD, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ux\u00eda-Saraiva","family":"Esper\u00f3n-Moldes","sequence":"additional","affiliation":[{"name":"Blueprint Genetics, A Quest Diagnostics Company, Espoo, Finland."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Milja","family":"Kaare","sequence":"additional","affiliation":[{"name":"Blueprint Genetics, A Quest Diagnostics Company, Espoo, Finland."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pekka T.","family":"Nokelainen","sequence":"additional","affiliation":[{"name":"Blueprint Genetics, A Quest Diagnostics Company, Espoo, Finland."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8018-226X","authenticated-orcid":true,"given":"Nurit Assia","family":"Batzir","sequence":"additional","affiliation":[{"name":"Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikvah, Israel."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-1104-2592","authenticated-orcid":true,"given":"Gal Zaks","family":"Hoffer","sequence":"additional","affiliation":[{"name":"Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikvah, Israel."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4680-3012","authenticated-orcid":true,"given":"Nicod\u00e8me","family":"Paul","sequence":"additional","affiliation":[{"name":"Laboratoire d\u2019ImmunoRhumatologie Mol\u00e9culaire, Institut national de la sant\u00e9 et de la recherche m\u00e9dicale (INSERM) UMR_S 1109, Plateforme GENOMAX, Centre de Recherche d\u2019Immunologie et d\u2019H\u00e9matologie and Centre de Recherche en Biom\u00e9decine de Strasbourg (CRBS), Facult\u00e9 de M\u00e9decine, F\u00e9d\u00e9ration Hospitalo-Universitaire OMICARE, F\u00e9d\u00e9ration de M\u00e9decine Translationnelle de Strasbourg (FMTS), Universit\u00e9 de Strasbourg, Strasbourg, France."},{"name":"Institut Th\u00e9matique Interdisciplinaire (ITI) Transplantex NG de M\u00e9decine de Pr\u00e9cision de Strasbourg, Facult\u00e9 de M\u00e9decine, Universit\u00e9 de Strasbourg, Strasbourg, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4382-1277","authenticated-orcid":true,"given":"Tristan","family":"Stemmelen","sequence":"additional","affiliation":[{"name":"Laboratoire d\u2019ImmunoRhumatologie Mol\u00e9culaire, Institut national de la sant\u00e9 et de la recherche m\u00e9dicale (INSERM) UMR_S 1109, Plateforme GENOMAX, Centre de Recherche d\u2019Immunologie et d\u2019H\u00e9matologie and Centre de Recherche en Biom\u00e9decine de Strasbourg (CRBS), Facult\u00e9 de M\u00e9decine, F\u00e9d\u00e9ration Hospitalo-Universitaire OMICARE, F\u00e9d\u00e9ration de M\u00e9decine Translationnelle de Strasbourg (FMTS), Universit\u00e9 de Strasbourg, Strasbourg, France."},{"name":"Institut Th\u00e9matique Interdisciplinaire (ITI) Transplantex NG de M\u00e9decine de Pr\u00e9cision de Strasbourg, Facult\u00e9 de M\u00e9decine, Universit\u00e9 de Strasbourg, Strasbourg, France."},{"name":"Laboratoire d\u2019Immunologie, Plateau Technique de Biologie, P\u00f4le de Biologie, Nouvel H\u00f4pital Civil, H\u00f4pitaux Universitaires de Strasbourg, Strasbourg, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9309-3100","authenticated-orcid":true,"given":"Lydie","family":"Naegely","sequence":"additional","affiliation":[{"name":"Laboratoire d\u2019ImmunoRhumatologie Mol\u00e9culaire, Institut national de la sant\u00e9 et de la recherche m\u00e9dicale (INSERM) UMR_S 1109, Plateforme GENOMAX, Centre de Recherche d\u2019Immunologie et d\u2019H\u00e9matologie and Centre de Recherche en Biom\u00e9decine de Strasbourg (CRBS), Facult\u00e9 de M\u00e9decine, F\u00e9d\u00e9ration Hospitalo-Universitaire OMICARE, F\u00e9d\u00e9ration de M\u00e9decine Translationnelle de Strasbourg (FMTS), Universit\u00e9 de Strasbourg, Strasbourg, France."},{"name":"Institut Th\u00e9matique Interdisciplinaire (ITI) Transplantex NG de M\u00e9decine de Pr\u00e9cision de Strasbourg, 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