Modeling <i>TCIRG1</i> Neutropenia by Utilizing Patient Derived Induced Pluripotent Stem Cells.

ABSTRACT: Congenital neutropenia is characterized by a reduced neutrophil count, decreased innate immunity and increased susceptibility to recurrent infections. While congenital neutropenia has various genetic causes, recent studies have linked TCIRG1 mutations to this condition. TCIRG1, a key component of the vacuolar ATPase (V-ATPase) complex, is essential for osteoclast function, but its role in hematopoiesis remains unclear. We previously identified heterozygous TCIRG1 mutations, including R736S, R736C, R736P, and E722D, in individuals with congenital neutropenia. However, the mechanism by which these mutations lead to impaired granulopoiesis remains unknown. To investigate the functional consequences of TCIRG1 mutations, we generated induced pluripotent stem cells (i

SUBMITTER: Makaryan V 

PROVIDER: S-EPMC12439587 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature