ArticleBritish journal of haematology2025
Heterozygous germline TET2 loss-of-function variants associated with an ALPS-like phenotype.
Article in British journal of haematology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- TET2 germline mutation in a patient with sequential lymphoid malignancies: a novel case report.Annals of hematology · 2026Article
- Heterozygous germline TET2 loss-of-function variants associated with an ALPS-like phenotype.British journal of haematology · 2025Article
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Authors and funding
14 authors.
Funding
Abstract
Germline homozygous loss-of-function mutations in TET2 result in significant childhood immunodeficiency that resembles autoimmune lymphoproliferative syndrome and predisposes one to lymphoma. The implications of heterozygous variants are less well understood. We describe four patients with heterozygous germline loss-of-function TET2 mutations who presented with B-cell lymphoma on a background of chronic lymphadenopathy and autoimmune features. This expands the association of germline TET2 mutations with lymphoma and an autoimmune lymphoproliferative syndrome-like phenotype to the heterozygous state. Assessment for TET2 mutations and germline origin should be considered in the appropriate context, as recognition of these variants may have implications on patient care.
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