{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T02:44:44Z","timestamp":1790995484950,"version":"4.1.0"},"reference-count":22,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2024,2,13]],"date-time":"2024-02-13T00:00:00Z","timestamp":1707782400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Medical University of Lublin","award":["DS640"],"award-info":[{"award-number":["DS640"]}]},{"name":"Medical University of Lublin","award":["DS410"],"award-info":[{"award-number":["DS410"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>This study investigated the association between autoimmunity and immunodeficiency in pediatric patients, focusing on the case of a 15-year-old female diagnosed with juvenile idiopathic arthritis (JIA) and secondary Sj\u00f6gren\u2019s syndrome. The patient presented with a variety of symptoms, including joint pain, bronchial asthma, leukopenia, and skin lesions. Genetic testing revealed a de novo mutation in the DOCK8 gene, associated with DOCK8 deficiency, a condition usually associated with immunodeficiencies. The clinical course, diagnostic pathway, and treatment history are detailed, highlighting the importance of molecular diagnostics in understanding the genetic basis of rheumatic diseases. This case highlights the need to consider innate immune errors in patients with multiple diseases or atypical symptoms of rheumatic diseases. Furthermore, the study highlights the importance of targeted treatment, including genetic counseling, to improve patient outcomes. The observed association between autoimmunity and immune deficiency reinforces the importance of molecular testing in elucidating the causes of previously idiopathic rheumatic diseases, contributing to improved patient care and quality of life.<\/jats:p>","DOI":"10.3390\/ijms25042259","type":"journal-article","created":{"date-parts":[[2024,2,14]],"date-time":"2024-02-14T04:18:22Z","timestamp":1707884302000},"page":"2259","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["DOCK8 Mutation in Patient with Juvenile Idiopathic Arthritis and Sj\u00f6gren\u2019s Syndrome"],"prefix":"10.3390","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1644-5568","authenticated-orcid":false,"given":"Violetta","family":"Opoka-Winiarska","sequence":"first","affiliation":[{"name":"Department of Paediatric Pulmonology and Rheumatology, Medical University of Lublin, 20-093 Lublin, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalia","family":"Winiarska","sequence":"additional","affiliation":[{"name":"Department of Methodology, Medical University of Warsaw, 02-091 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8760-0775","authenticated-orcid":false,"given":"Monika","family":"Lejman","sequence":"additional","affiliation":[{"name":"Laboratory of Genetic Diagnostics, Medical University of Lublin, 20-093 Lublin, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ma\u0142gorzata","family":"Gdak","sequence":"additional","affiliation":[{"name":"University Children\u2019s Hospital in Lublin, 20-093 Lublin, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Krzysztof","family":"Gosik","sequence":"additional","affiliation":[{"name":"Department of Experimental Immunology, Medical University of Lublin, 20-093 Lublin, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-5986-5845","authenticated-orcid":false,"given":"Filip","family":"Lewandowski","sequence":"additional","affiliation":[{"name":"Institute of Biology, University of Szczecin, 71-412 Szczecin, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4065-3842","authenticated-orcid":false,"given":"Paulina","family":"Nied\u017awiedzka-Rystwej","sequence":"additional","affiliation":[{"name":"Institute of Biology, University of Szczecin, 71-412 Szczecin, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0451-4741","authenticated-orcid":false,"given":"Ewelina","family":"Grywalska","sequence":"additional","affiliation":[{"name":"Department of Experimental Immunology, Medical University of Lublin, 20-093 Lublin, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,2,13]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1122","DOI":"10.1038\/s41423-020-00626-z","article-title":"Cellular and Molecular Mechanisms Breaking Immune Tolerance in Inborn Errors of Immunity","volume":"18","author":"Sogkas","year":"2021","journal-title":"Cell. 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