Heterozygous germline TET2 loss-of-function variants associated with an ALPS-like phenotype
- Author(s)
- Harrop, S; Casan, J; Rose, H; Sullivan, M; Mehr, S; Ngu, H; Caldwell, I; McKendrick, J; Anderson, MA; Den Elzen, N; Goode, E; Fox, LC; Lade, S; Blombery, P;
- Details
- Publication Year 2025-05,Volume 206,Issue #5,Page 1330-1334
- Journal Title
- British Journal of Haematology
- Publication Type
- Case report
- 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.
- Publisher
- Wiley
- Keywords
- Humans; *Germ-Line Mutation; Male; Dioxygenases; Female; *DNA-Binding Proteins/genetics; *Proto-Oncogene Proteins/genetics; *Heterozygote; *Loss of Function Mutation; Phenotype; *Autoimmune Lymphoproliferative Syndrome/genetics/pathology; Child; *Lymphoma, B-Cell/genetics; lymphomas; mutations; primary and secondary immune deficiencies
- Department(s)
- Haematology; Pathology
- Publisher's Version
- https://doi.org/10.1111/bjh.20042
- Open Access at Publisher's Site
https://doi.org/10.1111/bjh.20042- Terms of Use/Rights Notice
- Refer to copyright notice on published article.
Creation Date: 2025-04-08 06:06:05
Last Modified: 2025-06-02 01:58:46