{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,4]],"date-time":"2026-04-04T09:35:26Z","timestamp":1775295326425,"version":"3.50.1"},"reference-count":14,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2020,1,17]],"date-time":"2020-01-17T00:00:00Z","timestamp":1579219200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100006823","name":"Boston Children's Hospital","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006823","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013721","name":"Real Colegio Complutense","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013721","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2020,3]]},"abstract":"<jats:sec><jats:title>Background and purpose<\/jats:title><jats:p>Immune system dysfunction and inflammatory dysregulation have been shown in several animal models of fragile X syndrome (FXS). However, the phenotypical implications of this dysregulation have not been systematically evaluated in a large patient cohort.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Five thousand seven hundred thirty\u2010six FXS patients from a nationwide health insurance database were identified and compared to 573\u00a0600 age\u2010 and sex\u2010matched controls. The phenome\u2010wide association studies codes of FXS patients and those without FXS were compared and the false discovery rate was controlled at 0.05 using the Benjamini\u2013Hochberg procedure.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In addition to the commonly reported comorbidities of FXS, an over\u2010representation of infectious diseases, including otitis media, cellulitis and abscess of fingers or toes, viral enteritis, candidiasis and pneumonia, was discovered. In addition, there was an under\u2010representation of autoimmune disorders in FXS patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our systematic comorbidity analyses identified immunologically\u2010based phenotypes associated with FXS. Our findings align with previous observations of compromised immunity and phagocytic defects in animal models of FXS. These results suggest the importance of immune\u2010related pathways in FXS patients and their relevance to the <jats:italic>FMR1<\/jats:italic> gene.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.14146","type":"journal-article","created":{"date-parts":[[2019,12,26]],"date-time":"2019-12-26T13:29:08Z","timestamp":1577366948000},"page":"590-593","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["The phenotypical implications of immune dysregulation in fragile X syndrome"],"prefix":"10.1111","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9892-8218","authenticated-orcid":false,"given":"K.\u2010H.","family":"Yu","sequence":"first","affiliation":[{"name":"Department of Biomedical Informatics Harvard Medical School Boston Massachusetts, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Palmer","sequence":"additional","affiliation":[{"name":"Department of Biomedical Informatics Harvard Medical School Boston Massachusetts, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Fox","sequence":"additional","affiliation":[{"name":"Aetna Inc. Hartford Connecticut USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Prock","sequence":"additional","affiliation":[{"name":"Division of Developmental Medicine Boston Children\u2019s Hospital Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K. D.","family":"Mandl","sequence":"additional","affiliation":[{"name":"Department of Biomedical Informatics Harvard Medical School Boston Massachusetts, USA"},{"name":"Computational Health Informatics Program Boston Children\u2019s Hospital Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I. S.","family":"Kohane","sequence":"additional","affiliation":[{"name":"Department of Biomedical Informatics Harvard Medical School Boston Massachusetts, USA"},{"name":"Computational Health Informatics Program Boston Children\u2019s Hospital Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Prilutsky","sequence":"additional","affiliation":[{"name":"Computational Health Informatics Program Boston Children\u2019s Hospital Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,1,17]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2017.65"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-neuro-060909-153138"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn.3379"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201607093"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13229-015-0061-9"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201702034"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btq126"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000006546"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrn3978"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms6748"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamapsychiatry.2013.272"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrn1667"},{"key":"e_1_2_7_14_1","first-page":"184","article-title":"Recurrent otitis media in the fragile X syndrome","volume":"141","author":"Hagerman RJ","year":"1987","journal-title":"Am J Dis Child"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2013-4301"}],"container-title":["European Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fene.14146","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ene.14146","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/ene.14146","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ene.14146","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,8]],"date-time":"2023-09-08T06:04:05Z","timestamp":1694153045000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ene.14146"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,1,17]]},"references-count":14,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2020,3]]}},"alternative-id":["10.1111\/ene.14146"],"URL":"https:\/\/doi.org\/10.1111\/ene.14146","archive":["Portico"],"relation":{},"ISSN":["1351-5101","1468-1331"],"issn-type":[{"value":"1351-5101","type":"print"},{"value":"1468-1331","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,1,17]]},"assertion":[{"value":"2019-09-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-12-19","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-01-17","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}