Prolonged response after stopping TPO-RA in ITP, TP53 mutations and myelofibrosis outcomes, clinical picture of ERCC6L2 disease, where variants predispose to marrow failure and malignancy
Blood Podcast
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The ERCC 6L2 Syndrome and the Pathogenesis of the Disease
The ERCC 6L2 protein is involved in DNA double-strand break repair, DNA recombination and translocation. It likely also plays a role in mitochondrial function. 20 unique cases have been reported in six studies since the first description of ERCC6L2 syndrome in 2014. The patients presented with hyposellular marrow failure or microcephaly either as children or young adults.
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