Article

Human ASXL1 Deficiency Causes Epigenetic Dysfunction, Combined Immunodeficiency and EBV–Associated Hodgkin Lymphoma

2023-12-21

Abstract excerpt

<h4>ABSTRACT</h4> Inborn errors of immunity (IEI) are a group of disorders caused by deleterious variants in immune-related genes, including some that function as epigenetic regulators. Additional sex combs-like 1 (ASXL1) is an epigenetic modifier that has not previously been linked to an IEI. Somatic ASXL1 variants are found in clonal hematopoiesis and hematologic neoplasms, while heterozygous germline variants c...

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Literature Corpus work: b80e1f4c-2b33-54dd-b99d-78ae1f62806e
DOI: 10.1101/2023.12.20.23300096

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