{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,3,29]],"date-time":"2022-03-29T15:25:44Z","timestamp":1648567544392},"reference-count":0,"publisher":"Akademiai Kiado Zrt.","issue":"3","content-domain":{"domain":["akjournals.com"],"crossmark-restriction":true},"short-container-title":["Acta Microbiologica et Immunologica Hungarica"],"published-print":{"date-parts":[[2015,9]]},"abstract":"<jats:p>The hyper-immunoglobulin M (HIGM) syndrome is a heterogeneous group of genetic disorders characterized by recurrent infections, decreased serum levels of immunoglobulin G (IgG) and IgA, and normal\/increased serum levels of IgM. Herein, we describe three Turkish siblings with HIGM syndrome who had a homozygous missense mutation (c.70C&gt;T, p.Arg24Trp) in the activation-induced cytidine deaminase gene which results in autosomal recessive HIGM syndrome. Two of the siblings, sibling 1 and sibling 3, presented with cervical deep abscess and cervical tuberculosis lymphadenitis, respectively.<\/jats:p>","DOI":"10.1556\/030.62.2015.3.4","type":"journal-article","created":{"date-parts":[[2015,9,24]],"date-time":"2015-09-24T04:20:30Z","timestamp":1443068430000},"page":"267-274","update-policy":"http:\/\/dx.doi.org\/10.1556\/policypage.crossmark.crossref.1","source":"Crossref","is-referenced-by-count":3,"title":["Autosomal recessive hyper IgM syndrome associated with activation-induced cytidine deaminase gene in three Turkish siblings presented with tuberculosis lymphadenitis \u2014 Case report"],"prefix":"10.1556","volume":"62","author":[{"given":"Turkan","family":"Patiroglu","sequence":"first","affiliation":[{"name":"1 Erciyes University School of Medicine, Department of Pediatric Immunology, Kayseri, Turkey"},{"name":"3 Erciyes University School of Medicine, Department of Pediatric Hematology and Oncology, Kayseri, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H. Haluk","family":"Akar","sequence":"additional","affiliation":[{"name":"1 Erciyes University School of Medicine, Department of Pediatric Immunology, Kayseri, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mirjam","family":"van der Burg","sequence":"additional","affiliation":[{"name":"2Department of Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ekrem","family":"Unal","sequence":"additional","affiliation":[{"name":"3 Erciyes University School of Medicine, Department of Pediatric Hematology and Oncology, Kayseri, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"425","container-title":["Acta Microbiologica et Immunologica Hungarica"],"original-title":[],"link":[{"URL":"https:\/\/akjournals.com\/view\/journals\/030\/62\/3\/article-p267.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/akjournals.com\/downloadpdf\/journals\/030\/62\/3\/article-p267.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,3,1]],"date-time":"2021-03-01T11:51:14Z","timestamp":1614599474000},"score":1,"resource":{"primary":{"URL":"https:\/\/akjournals.com\/view\/journals\/030\/62\/3\/article-p267.xml"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,9]]},"references-count":0,"journal-issue":{"issue":"3"},"URL":"https:\/\/doi.org\/10.1556\/030.62.2015.3.4","relation":{},"ISSN":["1217-8950","1588-2640"],"issn-type":[{"value":"1217-8950","type":"print"},{"value":"1588-2640","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,9]]}}}