Associated Papers
Hemophagocytic lymphohistiocytosis secondary to isolated bronchial infection caused by Mycobacterium marseillense in a patient with GATA2 missense mutation: A rare case report.
Wu S et al.
Journal of Infection and Public Health, 2026
Whole-Genome Sequencing Reveals a Novel GATA2 Mutation in Lower-Grade Glioma: Bioinformatics Analysis of Functional and Therapeutic Implications.
Handoko et al.
Cancers, 2025
Age-dependent phenotypic and molecular evolution of pediatric MDS arising from GATA2 deficiency.
Kotmayer L et al.
Blood Cancer Journal, 2025
Clinical usefulness of next-generation sequencing-based target gene sequencing in diagnosis of inherited bone marrow failure syndrome.
Kwon YD et al.
Annals of Hematology, 2025
GATA2 deficiency and hemophagocytic lymphohistiocytosis (HLH): a systematic review of reported cases.
Rukerd MRZ et al.
Bmc Infectious Diseases, 2024
Genomic characterization of AML with aberrations of chromosome 7: a multinational cohort of 519 patients.
Halik A et al.
Journal of Hematology & Oncology, 2024
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function.
Alpaslan M et al.
Human Molecular Genetics, 2024
Pathogenic GATA2 genetic variants utilize an obligate enhancer mechanism to distort a multilineage differentiation program.
Katsumura KR et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
GATA2 deficiency in a patient with a somatic mutation of GATA2.
Liu Q et al.
Qjm : Monthly Journal of the Association of Physicians, 2024
A Nationwide Study of GATA2 Deficiency in Italy Reveals Novel Symptoms and Genotype-phenotype Association.
Roncareggi S et al.
Journal of Clinical Immunology, 2023
Cellular and metabolic characteristics of pre-leukemic hematopoietic progenitors with GATA2 haploinsufficiency.
Rein A et al.
Haematologica, 2023
The Clinical Spectrum, Diagnosis, and Management of GATA2 Deficiency.
Santiago M et al.
Cancers, 2023
Clinical, Imaging, and Laboratory Findings in Patients With GATA2 Deficiency Presenting With Early-Onset Ischemic Stroke.
Bierman-Chow S et al.
Neurology, 2023
Somatic mutations of activating signalling, transcription factor, and tumour suppressor are a precondition for leukaemia transformation in myelodysplastic syndromes.
Xu F et al.
Journal of Cellular and Molecular Medicine, 2022
GATA2 deficiency and MDS/AML: Experimental strategies for disease modelling and future therapeutic prospects.
Kotmayer L et al.
British Journal of Haematology, 2022
Syndromes predisposing to leukemia are a major cause of inherited cytopenias in children.
Gilad O et al.
Haematologica, 2022
Longitudinal dynamics of clonal hematopoiesis identifies gene-specific fitness effects.
Robertson NA et al.
Nature Medicine, 2022
Acquired somatic variants in inherited myeloid malignancies.
Armes H et al.
Leukemia, 2022
miR-181c regulates MCL1 and cell survival in GATA2 deficient cells.
Wang W et al.
Journal of Leukocyte Biology, 2022
Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification.
Liu T et al.
Nature Communications, 2022
IDH1 inhibitor-induced neutrophilic dermatosis in a patient with acute myeloid leukemia.
Dunn-Valadez S et al.
Cancer Treatment and Research Communications, 2022
GATA2 deficiency syndrome: A decade of discovery.
Homan CC et al.
Human Mutation, 2021
Genetic screening of children with marrow failure. The role of primary Immunodeficiencies.
Miano M et al.
American Journal of Hematology, 2021
Clinical utility of targeted next-generation sequencing for the diagnosis of myeloid neoplasms with germline predisposition.
Andrés-Zayas C et al.
Molecular Oncology, 2021
A novel germline GATA2 frameshift mutation with a premature stop codon in a family with congenital sensory hearing loss and myelodysplastic syndrome.
Nakazawa H et al.
International Journal of Hematology, 2021
Clinical and biological characteristics and prognostic impact of somatic GATA2 mutations in myeloid malignancies: a single institution experience.
Nanaa A et al.
Blood Cancer Journal, 2021
Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance.
Oleaga-Quintas C et al.
Journal of Clinical Immunology, 2021
Diagnosing MonoMAC Syndrome in GATA2 Germline Mutated Myelodysplastic Syndrome via Next-Generation Sequencing in a Patient with Refractory and Complex Infection: Case Report and Literature Review.
Shen Y et al.
Infection and Drug Resistance, 2021
Screening of genetic variants in ELANE mutation negative congenital neutropenia by next generation sequencing.
Arunachalam AK et al.
Journal of Clinical Pathology, 2020
2020 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.
Unknown Author
Journal of Clinical Immunology, 2020
Monitoring and treatment of MDS in genetically susceptible persons.
Davies SM
Hematology. American Society of Hematology. Education Program, 2019
Next-Generation Sequencing Improves Diagnosis, Prognosis and Clinical Management of Myeloid Neoplasms.
Carbonell D et al.
Cancers, 2019
MDS-associated mutations in germline GATA2 mutated patients with hematologic manifestations.
McReynolds LJ et al.
Leukemia Research, 2019
Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients.
Donadieu J et al.
Haematologica, 2018
Allogeneic Hematopoietic Stem Cell Transplantation for GATA2 Deficiency Using a Busulfan-Based Regimen.
Parta M et al.
Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation, 2018
Lethal Influenza in Two Related Adults with Inherited GATA2 Deficiency.
Sologuren I et al.
Journal of Clinical Immunology, 2018
Cellular stressors contribute to the expansion of hematopoietic clones of varying leukemic potential.
Wong TN et al.
Nature Communications, 2018
Heterogeneity of GATA2-related myeloid neoplasms.
Hirabayashi S et al.
International Journal of Hematology, 2017