{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T08:12:56Z","timestamp":1792138376843,"version":"4.4.0"},"reference-count":15,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2016,9,8]],"date-time":"2016-09-08T00:00:00Z","timestamp":1473292800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,12]]},"abstract":"<jats:sec><jats:label\/><jats:p>Antibody deficiency is common finding in patients with Jacobsen syndrome (JS). In addition, there have been few reports of T\u2010cell defects in this condition, possibly because most of the reported patients have not been specifically evaluated for T\u2010cell function. In this article, we present a child with an 11q deletion and combined immunodeficiency and we perform a literature overview on immunodeficiency in JS. Our patient presented with recurrent bacterial and prolonged viral infections involving the respiratory system, as well as other classic features of the syndrome. In addition to low IgM, IgG4, and B\u2010cells, also low recent thymic emigrants, helper and na\u00efve T\u2010cells were found. We propose that patients with Jacobsen syndrome need thorough immunological evaluations as T\u2010cell dysfunction might be more prevalent than previously reported. Patients with infections consistent with T\u2010cell defects should be classified as having combined immunodeficiency. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37859","type":"journal-article","created":{"date-parts":[[2016,9,8]],"date-time":"2016-09-08T12:10:46Z","timestamp":1473336646000},"page":"3237-3240","source":"Crossref","is-referenced-by-count":16,"title":["11q terminal deletion and combined immunodeficiency (Jacobsen syndrome): Case report and literature review on immunodeficiency in Jacobsen syndrome"],"prefix":"10.1002","volume":"170","author":[{"given":"\u0160tefan","family":"Blazina","sequence":"first","affiliation":[{"name":"Department of Allergy, Rheumatology and Clinical Immunology, Children's Hospital Ljubljana University Medical Centre Ljubljana Ljubljana Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alojz","family":"Ihan","sequence":"additional","affiliation":[{"name":"Institute of Microbiology and Immunology, Faculty of Medicine University of Ljubljana Ljubljana Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca","family":"Lovre\u010di\u0107","sequence":"additional","affiliation":[{"name":"Division of Obstetrics and Gynecology Clinical Institute of Medical Genetics University Medical Centre Ljubljana Ljubljana Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tinka","family":"Hovnik","sequence":"additional","affiliation":[{"name":"Unit of Special Laboratory Diagnostics Children's Hospital Ljubljana University Medical Centre Ljubljana Ljubljana Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,9,8]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20081399"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-015-0211-z"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31448"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1754.2011.02136.x"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/319506"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30090"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.8.1201"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-4-9"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980319)76:3<222::AID-AJMG5>3.0.CO;2-S"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-015-0201-1"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/MOP.0b013e32834cb9b0"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1081-1206(10)60192-5"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-013-9966-2"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0929-693X(99)80052-9"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20592"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37859","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37859","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37859","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T01:42:00Z","timestamp":1696642920000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37859"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,9,8]]},"references-count":15,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2016,12]]}},"alternative-id":["10.1002\/ajmg.a.37859"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37859","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,9,8]]}}}