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In addition, some PIDs are classified into the category of immunodeficiencies with syndromic features due to their accompanying clinical findings unrelated to immunity. In this article, a patient with CVID who was diagnosed in adulthood and who was revealed to have a mutation specific to Rubinstein\u2013Taybi syndrome and clinical features reminiscent of this syndrome only after molecular tests was presented.<\/jats:p>","DOI":"10.1155\/2022\/4970973","type":"journal-article","created":{"date-parts":[[2022,7,4]],"date-time":"2022-07-04T22:35:18Z","timestamp":1656974118000},"page":"1-5","source":"Crossref","is-referenced-by-count":2,"title":["A Case of Common Variable Immunodeficiency with CREBP Gene Mutation without Rubinstein Taybi Syndrome Features"],"prefix":"10.1155","volume":"2022","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1511-7634","authenticated-orcid":true,"given":"Ugur","family":"Musabak","sequence":"first","affiliation":[{"name":"Division of Immunology and Allergy, Baskent University, Faculty of Medicine, Ankara, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2786-1911","authenticated-orcid":true,"given":"Serdar","family":"Ceylaner","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Lokman Hekim University, Ankara, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3143-2442","authenticated-orcid":true,"given":"Tuba","family":"Erdogan","sequence":"additional","affiliation":[{"name":"Division of Immunology and Allergy, Baskent University, Faculty of Medicine, Ankara, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2280-8778","authenticated-orcid":true,"given":"Ebru Sebnem","family":"Ayva","sequence":"additional","affiliation":[{"name":"Department of Pathology, Baskent University, Faculty of Medicine, Ankara, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-017-0401-y"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-020-00758-x"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2014.00415"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.3390\/antib9020024"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1080\/1744666x.2021.1850272"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.3906\/sag-2010-82"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1007\/s11894-016-0491-3"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-020-00808-4"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37800"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61131"}],"container-title":["Case Reports in Immunology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/crii\/2022\/4970973.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crii\/2022\/4970973.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crii\/2022\/4970973.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,7,4]],"date-time":"2022-07-04T22:35:20Z","timestamp":1656974120000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.hindawi.com\/journals\/crii\/2022\/4970973\/"}},"subtitle":[],"editor":[{"given":"Necil","family":"K\u00fct\u00fck\u00e7\u00fcler","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2022,7,4]]},"references-count":10,"alternative-id":["4970973","4970973"],"URL":"https:\/\/doi.org\/10.1155\/2022\/4970973","relation":{},"ISSN":["2090-6617","2090-6609"],"issn-type":[{"value":"2090-6617","type":"electronic"},{"value":"2090-6609","type":"print"}],"subject":[],"published":{"date-parts":[[2022,7,4]]}}}