{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,4]],"date-time":"2026-07-04T18:19:21Z","timestamp":1783189161914,"version":"3.54.6"},"reference-count":10,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T00:00:00Z","timestamp":1782950400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"DOI":"10.13039\/100013995","name":"Sanofi Genzyme","doi-asserted-by":"publisher","award":["Genzyme-Sanofi no 1WC\/DAR3\/16"],"award-info":[{"award-number":["Genzyme-Sanofi no 1WC\/DAR3\/16"]}],"id":[{"id":"10.13039\/100013995","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"abstract":"<jats:p>\n                    Combined immunodeficiency (CID) due to\n                    <jats:italic toggle=\"yes\">ORAI1<\/jats:italic>\n                    deficiency is an ultrarare autosomal recessive disorder characterized by the coexistence of recurrent infections, ectodermal dysplasia, autoimmunity, and myopathy. Untreated patients die in early childhood due to recurrent severe infections. This report presents a familial case of CID due to ORAI1 deficiency, caused by a homozygous loss-of-function variant c.581T&gt;C in the\n                    <jats:italic toggle=\"yes\">ORAI1<\/jats:italic>\n                    gene. The oldest of the siblings died because of recurrent severe infections in the third year of life. His brother survived because of hematopoietic cell transplantation (HCT) but developed other symptoms of the disease. The patient achieved the ability to walk unaided at age 18 months, with a waddling gait from the beginning. His neurologic status was stable in early childhood, with mild deterioration after age 6 years. At the age of 11 years, proximal muscle weakness and borderline respiratory sufficiency are observed, with myopathic electromyography, normal level of creatine kinase, and global fatty infiltration in muscle magnetic resonance imaging, most pronounced in gluteus maximus. Additionally, dental dysplasia and heat intolerance are observed. Keywords: ORAI1 deficiency, combined immunodeficiency,\n                    <jats:italic toggle=\"yes\">ORAI1<\/jats:italic>\n                    gene, neuromuscular symptoms, myopathy\n                  <\/jats:p>","DOI":"10.1177\/08830738261459493","type":"journal-article","created":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T18:25:46Z","timestamp":1783016746000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Neuromuscular Symptoms of\n                    <i>ORAI1<\/i>\n                    -Related Immunodeficiency"],"prefix":"10.1177","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2820-9362","authenticated-orcid":false,"given":"Maria","family":"J\u0119drzejowska","sequence":"first","affiliation":[{"name":"Department of Neurology, Medical University of Warsaw, Warsaw, Poland, ERN EURO-NMD"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8332-1090","authenticated-orcid":false,"given":"Anna","family":"Potulska-Chromik","sequence":"additional","affiliation":[{"name":"Department of Neurology, Medical University of Warsaw, Warsaw, Poland, ERN EURO-NMD"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-0124-7347","authenticated-orcid":false,"given":"Karolina","family":"Czeczko","sequence":"additional","affiliation":[{"name":"Department of Neurology, Medical University of Warsaw, Warsaw, Poland, ERN EURO-NMD"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0719-1933","authenticated-orcid":false,"given":"Maria","family":"Franaszczyk","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4863-4443","authenticated-orcid":false,"given":"Beata","family":"Wolska-Ku\u015bnierz","sequence":"additional","affiliation":[{"name":"Department of Immunology, The Children's Memorial Health Institute, Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7396-7456","authenticated-orcid":false,"given":"Edyta","family":"Rosiak","sequence":"additional","affiliation":[{"name":"2ndDepartment of Radiology, Medical University of Warsaw, Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6447-6388","authenticated-orcid":false,"given":"Karolina","family":"Aragon-Gawi\u0144ska","sequence":"additional","affiliation":[{"name":"Department of Neurology, Medical University of Warsaw, Warsaw, Poland, ERN EURO-NMD"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6918-5056","authenticated-orcid":false,"given":"Tomasz","family":"Stok\u0142osa","sequence":"additional","affiliation":[{"name":"Department of Tumor Biology and Genetics, Medical University of Warsaw, Poland"},{"name":"University Clinical Center, Medical University of Warsaw"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7309-1914","authenticated-orcid":false,"given":"Anna","family":"Kostera-Pruszczyk","sequence":"additional","affiliation":[{"name":"Department of Neurology, Medical University of Warsaw, Warsaw, Poland, ERN EURO-NMD"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,7,2]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature04702"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1111\/nyas.12938"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.3389\/fphys.2020.604941"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2009.10.007"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0900082"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-022-01352-z"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2017.10.031"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2015.03.050"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.3760\/cma.j.issn.0578-1310.2019.02.015"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-021-01004-8"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738261459493","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/08830738261459493","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738261459493","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,4]],"date-time":"2026-07-04T17:58:15Z","timestamp":1783187895000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/08830738261459493"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,2]]},"references-count":10,"alternative-id":["10.1177\/08830738261459493"],"URL":"https:\/\/doi.org\/10.1177\/08830738261459493","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7,2]]},"article-number":"08830738261459493"}}