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Besides for being predisposed to severe life-threatening infections, patients with APECED are also prone to organ impairment secondary to severe autoimmunity. As this is an autosomal recessive disorder, a biallelic mutation in the <jats:italic>AIRE<\/jats:italic> gene is responsible for APECED. The author presents a case of APECED with a single <jats:italic>AIRE<\/jats:italic> mutation. Whole exome sequencing identified a mutation in the <jats:italic>BTNL2<\/jats:italic> gene that the author suggests may have contributed to the patient\u2019s presentation.<\/jats:p>","DOI":"10.1155\/2019\/8746249","type":"journal-article","created":{"date-parts":[[2019,12,28]],"date-time":"2019-12-28T18:30:44Z","timestamp":1577557844000},"page":"1-3","source":"Crossref","is-referenced-by-count":1,"title":["Primary Immunodeficiency with Severe Multi-Organ Immune Dysregulation"],"prefix":"10.1155","volume":"2019","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8428-5944","authenticated-orcid":true,"given":"Tatyana","family":"Gavrilova","sequence":"first","affiliation":[{"name":"Assistant Professor, Albert Einstein College of Medicine, Attending in Medicine and Pediatrics, Division of Allergy and Immunology, Montefiore Medical Center, Bronx, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1126\/sciimmunol.aav6778"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1155\/2018\/3930750"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1111\/imm.12831"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1016\/j.coi.2017.10.003"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1111\/nyas.14089"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1038\/ni.3247"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaut.2019.01.011"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2017.01074"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2018.00567"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2013.2"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.178.3.1523"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1136\/bjophthalmol-2018-312949"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.1201760"},{"key":"14","doi-asserted-by":"publisher","DOI":"10.1002\/iid3.105"},{"key":"15","doi-asserted-by":"publisher","DOI":"10.1002\/jgm.2961"},{"key":"16","doi-asserted-by":"publisher","DOI":"10.1136\/gutjnl-2014-308617"},{"key":"17","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0122639"},{"key":"18","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2016.00003"},{"key":"19","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013-4358"},{"key":"20","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaut.2015.07.009"}],"container-title":["Case Reports in Immunology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/crii\/2019\/8746249.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crii\/2019\/8746249.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crii\/2019\/8746249.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,12,28]],"date-time":"2019-12-28T18:30:45Z","timestamp":1577557845000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.hindawi.com\/journals\/crii\/2019\/8746249\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,12,28]]},"references-count":20,"alternative-id":["8746249","8746249"],"URL":"https:\/\/doi.org\/10.1155\/2019\/8746249","relation":{},"ISSN":["2090-6609","2090-6617"],"issn-type":[{"value":"2090-6609","type":"print"},{"value":"2090-6617","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,12,28]]}}}