RT Journal Article
T1 Acquired Senescent T-Cell Phenotype Correlates with Clinical Severity in GATA Binding Protein 2-Deficient Patients
A1 Ruiz-García, Raquel
A1 Ruiz Contreras, Jesús
A1 Paz Artal, Estela Natividad
A1 González Granado, Luis Ignacio
A1 Allende Martínez, Luis Miguel
AB GATA binding protein 2 (GATA2) de"ciency is a rare disorder of hematopoiesis, lymphatics, and immunity caused by spontaneous or autosomal dominant mutations in the GATA2 gene. Clinical manifestations range from neutropenia, lymphedema, deafness, to severe viral and mycobacterial infections, bone marrow failure, and acute myeloid leukemia. Patients also present with monocytopenia, dendritic cell, B- and natural killer (NK)-cell de"ciency. We studied the T-cell and NK-cell compartments of four GATA2-defcient patients to assess if changes in these lymphocyte populations could be correlated with clinical phenotype. Patients with more severe clinical complications demonstrated a senescent T-cell phenotype whereas patients with lower clinical score had undetectable changes relative to controls. In contrast, patients’ NK-cells demonstrated an immature/activated phenotype that did not correlate with clinical score, suggesting an intrinsic NK-cell defect. These studies will help us to determine the contribution of T- and NK-cell dysregulation to the clinical phenotype of GATA2 patients, and may help to establish the most accurate therapeutic options for these patients. Asymptomatic patients may be taken into consideration for hematopoietic stem cell transplantation when dysregulation of T-cell and NK-cell compartment is present.
SN 1664-3224
YR 2017
FD 2017-07-12
LK https://hdl.handle.net/20.500.14352/114311
UL https://hdl.handle.net/20.500.14352/114311
LA eng
NO Ruiz-García R, Rodríguez-Vigil C, Marco FM, Gallego-Bustos F, Castro-Panete MJ, Diez-Alonso L, Muñoz-Ruiz C, Ruiz-Contreras J, Paz-Artal E, González-Granado LI, Allende LM. Acquired Senescent T-Cell Phenotype Correlates with Clinical Severity in GATA Binding Protein 2-Deficient Patients. Front Immunol. 2017 Jul 12;8:802. doi: 10.3389/fimmu.2017.00802. PMID: 28747912; PMCID: PMC5506090.
DS Docta Complutense
RD 6 abr 2025