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• W4221027467 abstract "Atypical Behçet’s is recognised in myelodysplastic syndrome (MDS) cases and is associated with trisomy 8. Clonal cytopenia of undetermined significance (CCUS) is recognised as a precursor to MDS. Our case describes the presentation of atypical Behçet’s, in association with CCUS, post a Streptococcal infection. A mutation of a zinc finger RNA spliceosome, ZRSR2, is also described. Our patient initially presented with macrocytic anaemia, together with neutropenia and lymphocytopenia on routine monitoring. Later gastrointestinal symptoms together with oral and anal ulcerations developed. He was treated with oral zinc therapy and had resolution of recurrent oral ulcerations and significant reduction in severity of anal ulcerations. The functional impact of ZRSR2 mutation on spliceosome assembly is yet to be defined, but has been previously reported in CCUS with a clinical phenotype of macrocytic anaemia." @default.
• W4221027467 created "2022-04-03" @default.
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• W4221027467 date "2022-03-01" @default.
• W4221027467 modified "2023-09-27" @default.
• W4221027467 title "Clonal cytopenia of undetermined significance and atypical Behçet’s: the importance of zinc" @default.
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• W4221027467 doi "https://doi.org/10.1136/bcr-2021-247154" @default.
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