{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,20]],"date-time":"2025-09-20T22:04:25Z","timestamp":1758405865928,"version":"3.37.3"},"reference-count":32,"publisher":"Walter de Gruyter GmbH","issue":"10","funder":[{"DOI":"10.13039\/501100003243","name":"Ministry of Health of the Czech Republic","doi-asserted-by":"publisher","award":["NV18-01-007"],"award-info":[{"award-number":["NV18-01-007"]}],"id":[{"id":"10.13039\/501100003243","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,10,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2019-0261_s_999_w2aab3b7c17b1b6b1aab1c18b1Aa\">\n                  <jats:title id=\"d2761551e59007_w2aab3b7c17b1b6b1aab1c18b1aAa\">Background<\/jats:title>\n                  <jats:p>Paediatric type 1 diabetes (T1D) and rare syndromes of monogenic multi-organ autoimmunity share basic features such as full insulin dependency and the presence of circulating beta-cell autoantibodies. However, the aetiopathogenesis, natural course and treatment of these conditions differ; therefore, monogenic multi-organ autoimmunity requires early recognition. We aimed to search for these monogenic conditions among a large cohort of children with T1D.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2019-0261_s_998_w2aab3b7c17b1b6b1aab1c18b2Aa\">\n                  <jats:title id=\"d2761551e59015_w2aab3b7c17b1b6b1aab1c18b2aAa\">Methods<\/jats:title>\n                  <jats:p>Of 519 children with T1D followed-up in a single centre, 18 had multiple additional autoimmune conditions \u2013 either autoimmune thyroid disease (AITD) and coeliac disease (CD) or at least one additional organ-specific autoimmune condition in addition to AITD or CD. These 18 children were tested by direct Sanger sequencing (four patients with a suggestive phenotype of immune dysregulation, polyendocrinopathy, enteropathy, X-linked [IPEX] or signal transducer and activator of transcription 3 [<jats:italic>STAT3<\/jats:italic>]- and cytotoxic T-lymphocyte protein 4 [<jats:italic>CTLA4<\/jats:italic>]-associated syndromes) or by whole-exome sequencing (WES) focused on autoimmune regulator (<jats:italic>AIRE<\/jats:italic>), forkhead box protein 3 (<jats:italic>FOXP3<\/jats:italic>), <jats:italic>CTLA4<\/jats:italic>, <jats:italic>STAT3<\/jats:italic>, signal transducer and activator of transcription 1 (<jats:italic>STAT1<\/jats:italic>), lipopolysaccharide-responsive and beige-like anchor protein (<jats:italic>LRBA<\/jats:italic>) and interleukin-2 receptor subunit \u03b1 (<jats:italic>IL2RA<\/jats:italic>) genes. In addition, we assessed their T1D genetic risk score (T1D-GRS).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2019-0261_s_997_w2aab3b7c17b1b6b1aab1c18b3Aa\">\n                  <jats:title id=\"d2761551e59051_w2aab3b7c17b1b6b1aab1c18b3aAa\">Results<\/jats:title>\n                  <jats:p>We identified novel variants in <jats:italic>FOXP3<\/jats:italic>, <jats:italic>STAT3<\/jats:italic> and <jats:italic>CTLA4<\/jats:italic> in four cases. All patients had a severe phenotype suggestive of a single gene defect. No variants were identified in the remaining 14 patients. T1D-GRS varied among the entire cohort; four patients had scores below the 25th centile including two genetically confirmed cases.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2019-0261_s_996_w2aab3b7c17b1b6b1aab1c18b4Aa\">\n                  <jats:title id=\"d2761551e59068_w2aab3b7c17b1b6b1aab1c18b4aAa\">Conclusions<\/jats:title>\n                  <jats:p>A monogenic cause of autoimmune diabetes was confirmed only in four patients. Genetic screening for monogenic autoimmunity in children with a milder phenotype and a combination of AITD and CD is unlikely to identify a monogenic cause. In addition, the T1D-GRS varied among individual T1D patients.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2019-0261","type":"journal-article","created":{"date-parts":[[2019,9,4]],"date-time":"2019-09-04T12:50:59Z","timestamp":1567601459000},"page":"1147-1153","source":"Crossref","is-referenced-by-count":7,"title":["Screening of monogenic autoimmune diabetes among children with type 1 diabetes and multiple autoimmune diseases: is it worth doing?"],"prefix":"10.1515","volume":"32","author":[{"given":"Veronika","family":"Strakova","sequence":"first","affiliation":[{"name":"Department of Paediatrics, 2 Faculty of Medicine , Charles University in Prague, University Hospital Motol , Prague , Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lenka","family":"Elblova","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, 2 Faculty of Medicine , Charles University in Prague, University Hospital Motol , Prague , Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew B.","family":"Johnson","sequence":"additional","affiliation":[{"name":"Institute of Biomedical and Clinical Science, University of Exeter Medical School , Exeter , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Petra","family":"Dusatkova","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, 2 Faculty of Medicine , Charles University in Prague, University Hospital Motol , Prague , Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbora","family":"Obermannova","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, 2 Faculty of Medicine , Charles University in Prague, University Hospital Motol , Prague , Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lenka","family":"Petruzelkova","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, 2 Faculty of Medicine , Charles University in Prague, University Hospital Motol , Prague , Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stanislava","family":"Kolouskova","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, 2 Faculty of Medicine , Charles University in Prague, University Hospital Motol , Prague , Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta","family":"Snajderova","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, 2 Faculty of Medicine , Charles University in Prague, University Hospital Motol , Prague , Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eva","family":"Fronkova","sequence":"additional","affiliation":[{"name":"Department of Paediatric Haematology and Oncology, 2 Faculty of Medicine , Charles University in Prague, University Hospital Motol , Prague , Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Svaton","sequence":"additional","affiliation":[{"name":"Department of Paediatric Haematology and Oncology, 2 Faculty of Medicine , Charles University in Prague, University Hospital Motol , Prague , Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan","family":"Lebl","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, 2 Faculty of Medicine , Charles University in Prague, University Hospital Motol , Prague , Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew T.","family":"Hattersley","sequence":"additional","affiliation":[{"name":"Institute of Biomedical and Clinical Science, University of Exeter Medical School , Exeter , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zdenek","family":"Sumnik","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, 2 Faculty of Medicine , Charles University in Prague, University Hospital Motol , Prague , Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2076-115X","authenticated-orcid":false,"given":"Stepanka","family":"Pruhova","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, 2 Faculty of Medicine , Charles University in Prague, University Hospital Motol , Prague , Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2019,9,4]]},"reference":[{"key":"2023040101010083526_j_jpem-2019-0261_ref_001_w2aab3b7c17b1b6b1ab1b6b1Aa","doi-asserted-by":"crossref","unstructured":"Pociot F, Lernmark \u00c5. 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