{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T14:03:16Z","timestamp":1780063396816,"version":"3.54.0"},"reference-count":42,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2024,10,19]],"date-time":"2024-10-19T00:00:00Z","timestamp":1729296000000},"content-version":"vor","delay-in-days":18,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Allergy Immunology"],"published-print":{"date-parts":[[2024,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>In this study, we aimed to report long\u2010term follow\u2010up of our pediatric and adult patients with <jats:italic>DCLRE1C<\/jats:italic> (DNA cross\u2010link repair 1C) hypomorphic mutation who were diagnosed leaky severe combined immunodeficiency (SCID).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Eighteen patients (13 children and five adults), aged between 6 and 29\u2009years were included. Clinical and immunological features, including immunoglobulin levels, T and B cells, natural killer cell subsets, regulator T (Treg) cell ratios\/markers, and cytokines, were assessed before and after hematopoietic stem cell transplantation (HSCT) and compared with healthy controls.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Recurrent infections (78%) and skin manifestations (61%) such as granulomatous skin lesions, warts, and vitiligo were the most common clinical findings. Autoimmune diseases were observed in 33% and malignancy in 17%. Most patients had low serum IgA and B\u2010 and T\u2010cell lymphopenia at the first admission. Recent thymic emigrants (RTE), T<jats:sub>naive<\/jats:sub>, B<jats:sub>naive<\/jats:sub>, CD56<jats:sup>dim<\/jats:sup>CD16<jats:sup>+<\/jats:sup> cell ratios were significantly lower in the patients than in control; however, follicular helper T T<jats:sub>FH<\/jats:sub> and Th1 [interferon gamma (IFN\u2010\u03b3)] cell ratios were significantly higher than the control. Although, Treg ratio and its functional receptors tend to be high but not significant. Eleven patients (61.1%) were treated with HSCT. Median follow\u2010up times of transplant patients was 56 (9\u201367) months.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Patients with hypomorphic <jats:italic>DCLRE1C<\/jats:italic> mutations may present with variable clinical and laboratory findings at different ages. Our study showed a helper T (Th)1\u2010dominant immune response before and after HSCT. Increased IFN\u2010\u03b3 and T<jats:sub>FH<\/jats:sub> cells ratio could be a reason of chronic inflammation and autoimmunity developing before and after HSCT. Long\u2010term follow\u2010up of these patients after HSCT will help to better understand the disease and its pathophysiology.<\/jats:p><\/jats:sec>","DOI":"10.1111\/pai.14260","type":"journal-article","created":{"date-parts":[[2024,10,19]],"date-time":"2024-10-19T08:49:48Z","timestamp":1729327788000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Variable clinical presentation of hypomorphic <scp><i>DCLRE1C<\/i><\/scp> deficiency from childhood to adulthood"],"prefix":"10.1111","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0338-1040","authenticated-orcid":false,"given":"Esra","family":"Hazar","sequence":"first","affiliation":[{"name":"Division of Pediatric Immunology and Allergy, Faculty of Medicine Necmettin Erbakan University  Konya Turkey"},{"name":"Division of Pediatric Immunology and Allergy, Faculty of Medicine Alanya Alaaddin Keykubat Un\u0131versity  Antalya 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