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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 - 1 Oct 2024

Hazar Esra, Karaselek Mehmet Ali, Kapakli Hasan, Dogar Oznur, Kuccukturk Serkan, Uygun Vedat, Artac Hasibe, Fındık Sıdıka, Sahin Ali, Arslan Sevket, Guner Sukru, Reisli Ismail, Keles Sevgi

Abstract excerpt

BACKGROUND: 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,...

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PMID: 39425552
DOI: 10.1111/pai.14260

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