Variable clinical presentation of hypomorphic dclre1c deficiency from childhood to adulthood

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dc.contributor.authorHazar, Esra
dc.contributor.authorKaraselek, Mehmet Ali
dc.contributor.authorKapakli, Hasan
dc.contributor.authorDoğar, Öznur
dc.contributor.authorKüççüktürk, Serkan
dc.contributor.authorUygun, Vedat
dc.contributor.authorArtac, Hasibe
dc.date.accessioned2025-01-12T17:20:02Z
dc.date.available2025-01-12T17:20:02Z
dc.date.issued2024
dc.departmentKMÜ, Tıp Fakültesi, Temel Tıp Bilimleri Bölümü
dc.description.abstractBackground In this study, we aimed to report long-term follow-up of our pediatric and adult patients with DCLRE1C (DNA cross-link repair 1C) hypomorphic mutation who were diagnosed leaky severe combined immunodeficiency (SCID). Methods Eighteen patients (13 children and five adults), aged between 6 and 29 years 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. Results 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- and T-cell lymphopenia at the first admission. Recent thymic emigrants (RTE), T-naive, B-naive, CD56(dim)CD16(+) cell ratios were significantly lower in the patients than in control; however, follicular helper T T-FH and Th1 [interferon gamma (IFN-gamma)] 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-up times of transplant patients was 56 (9-67) months. Conclusion Patients with hypomorphic DCLRE1C mutations may present with variable clinical and laboratory findings at different ages. Our study showed a helper T (Th)1-dominant immune response before and after HSCT. Increased IFN-gamma and T-FH cells ratio could be a reason of chronic inflammation and autoimmunity developing before and after HSCT. Long-term follow-up of these patients after HSCT will help to better understand the disease and its pathophysiology.
dc.description.sponsorshipNecmettin Erbakan University Scientific Research Coordination [182018008, 192018006, 201318003]
dc.description.sponsorshipNecmettin Erbakan University Scientific Research Coordination (project number: 182018008, 192018006 and 201318003)This study was funded by Local Scientific Research Project Committee (project number: 182018008, 192018006 and 201318003).
dc.identifier.citationHazar, E., Karaselek, M. A., Kapakli, H., Dogar, O., Kuccukturk, S., Uygun, V., Artac, H., Fındık, S., Sahin, A., Arslan, S., Guner, S., Reisli, I., & Keles, S. (2024). Variable clinical presentation of hypomorphic dclre1c deficiency from childhood to adulthood. Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 35(10), e14260. https://doi.org/10.1111/pai.14260
dc.identifier.doi10.1111/pai.14260
dc.identifier.issn0905-6157
dc.identifier.issn1399-3038
dc.identifier.issue10
dc.identifier.pmid39425552
dc.identifier.scopus2-s2.0-85206839973
dc.identifier.scopusqualityQ1
dc.identifier.urihttps://doi.org/10.1111/pai.14260
dc.identifier.urihttps://hdl.handle.net/11492/10298
dc.identifier.volume35
dc.identifier.wosWOS:001339024600001
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Sceince
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorKüççüktürk, Serkan
dc.institutionauthoridKüççüktürk, Serkan/0000-0001-8445-666X
dc.language.isoen
dc.publisherWiley
dc.relation.ispartofPediatric Allergy and Immunology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectArtemis
dc.subjectCombined immune deficiency
dc.subjectDCLRE1C
dc.subjectLeaky severe combined immunodeficiency
dc.subjectSevere combined immune deficiency
dc.titleVariable clinical presentation of hypomorphic dclre1c deficiency from childhood to adulthood
dc.typeArticle

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