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.authorDogar, Oznur
dc.contributor.authorKüççüktürk, Serkan
dc.contributor.authorUygun, Vedat
dc.contributor.authorArtaç, Hasibe
dc.date.accessioned2026-01-24T12:20:44Z
dc.date.available2026-01-24T12:20:44Z
dc.date.issued2024
dc.departmentAlanya Alaaddin Keykubat Üniversitesi
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<inf>naive</inf>, B<inf>naive</inf>, CD56dimCD16+ cell ratios were significantly lower in the patients than in control; however, follicular helper T T<inf>FH</inf> and Th1 [interferon gamma (IFN-?)] 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-? and T<inf>FH</inf> 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. © 2024 The Author(s). Pediatric Allergy and Immunology published by European Academy of Allergy and Clinical Immunology and John Wiley & Sons Ltd.
dc.description.sponsorship(182018008, 192018006, 201318003)
dc.identifier.doi10.1111/pai.14260
dc.identifier.issn0905-6157
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/20.500.12868/4549
dc.identifier.volume35
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherJohn Wiley and Sons Inc
dc.relation.ispartofPediatric Allergy and Immunology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_Scopus_20260121
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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