Article
Loss of function of ENT3 drives histiocytosis and inflammation through TLR-MAPK signaling.
Blood - 16 Nov 2023
Shiloh Ruth, Lubin Ruth, David Odeya, Geron Ifat, Okon Elimelech, Hazan Idit, Zaliova Marketa, Amarilyo Gil, Birger Yehudit, Borovitz Yael, Brik Dafna, Broides Arnon, Cohen-Kedar Sarit, Harel Liora, Kristal Eyal, Kozlova Daria, Ling Galina, Shapira Rootman Mika, Shefer Averbuch Noa, Spielman Shiri, Trka Jan, Izraeli Shai, Yona Simon, Elitzur Sarah
Abstract excerpt
Histiocytoses are inflammatory myeloid neoplasms often driven by somatic activating mutations in mitogen-activated protein kinase (MAPK) cascade genes. H syndrome is an inflammatory genetic disorder caused by germ line loss-of-function mutations in SLC29A3, encoding the lysosomal equilibrative nucleoside transporter 3 (ENT3). Patients with H syndrome are predisposed to develop histiocytosis, yet the mechanism is...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.