Associated Papers
Age-dependent phenotypic and molecular evolution of pediatric MDS arising from GATA2 deficiency.
Kotmayer L et al.
Blood Cancer Journal, 2025
ctDNA-based liquid biopsy reveals wider mutational profile with therapy resistance and metastasis susceptibility signatures in early-stage breast cancer patients.
Bharde A et al.
The Journal of Liquid Biopsy, 2025
Non-Malignant Granulocyte and Monocyte Disorders: An Update.
Ahmad Hilmi SB et al.
British Journal of Biomedical Science, 2025
GATA2 deficiency and hemophagocytic lymphohistiocytosis (HLH): a systematic review of reported cases.
Rukerd MRZ et al.
Bmc Infectious Diseases, 2024
High frequency of GATA2 variants in patients with pulmonary fungal disease without immunocompromised risk factors: a retrospective study.
Zhuansun Y et al.
Journal of Thoracic Disease, 2024
Evaluation of the genetic basis of familial-associated early-onset hematologic cancers in an ancestral/ethnically diverse population.
Feng Q et al.
Haematologica, 2024
Haemophagocytic lymphohistiocytosis caused by GATA2 deficiency: a report on three patients.
Wu L et al.
Bmc Infectious Diseases, 2024
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT et al.
Genome Medicine, 2023
A Nationwide Study of GATA2 Deficiency in Italy Reveals Novel Symptoms and Genotype-phenotype Association.
Roncareggi S et al.
Journal of Clinical Immunology, 2023
Extensive dental caries and periodontal disease in a child with GATA2 deficiency.
Consonni F et al.
Journal of Clinical and Experimental Dentistry, 2023
Next-Generation Sequencing-Based Genomic Profiling of Children with Acute Myeloid Leukemia.
Krizsán S et al.
The Journal of Molecular Diagnostics : Jmd, 2023
Infection and myelodysplasia: A case report of GATA2 deficiency in a South African patient.
Nell EM et al.
Clinical Case Reports, 2023
Case Report: Missing zinc finger domains: hemophagocytic lymphohistiocytosis in a GATA2 deficiency patient triggered by non-tuberculous mycobacteriosis.
Huang X et al.
Frontiers in Immunology, 2023
Impaired Overall Survival in Young Patients With Acute Myeloid Leukemia and Variants in Genes Predisposing for Myeloid Malignancies.
Kirschner M et al.
Hemasphere, 2022
GATA2 deficiency syndrome: A decade of discovery.
Homan CC et al.
Human Mutation, 2021
A multimodal genomics approach to diagnostic evaluation of pediatric hematologic malignancies.
Hiemenz MC et al.
Cancer Genetics, 2021
Diagnosis of GATA2 Deficiency in a Young Woman with Hemophagocytic Lymphohistiocytosis Triggered by Acute Systemic Cytomegalovirus Infection.
Burak N et al.
The American Journal of Case Reports, 2021
Germline pathogenic variants in transcription factors predisposing to pediatric acute myeloid leukemia: results from the French ELAM02 trial.
Fenwarth L et al.
Haematologica, 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
Prevalence of germline GATA2 and SAMD9/9L variants in paediatric haematological disorders with monosomy 7.
Yoshida M et al.
British Journal of Haematology, 2020
Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels.
Lauhasurayotin S et al.
Npj Genomic Medicine, 2019
GATA2 deficiency and human hematopoietic development modeled using induced pluripotent stem cells.
Jung M et al.
Blood Advances, 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
2018 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.
Unknown Author
Journal of Clinical Immunology, 2018
Implications of mutational spectrum in myelodysplastic syndromes based on targeted next-generation sequencing.
Xu Y et al.
Oncotarget, 2017
Heterogeneity of GATA2-related myeloid neoplasms.
Hirabayashi S et al.
International Journal of Hematology, 2017
Multiple Opportunistic Infections in a Woman with GATA2 Mutation.
Vila A et al.
International Journal of Infectious Diseases : Ijid : Official Publication of the International Society for Infectious Diseases, 2017
Acquired Senescent T-Cell Phenotype Correlates with Clinical Severity in GATA Binding Protein 2-Deficient Patients.
Ruiz-García R et al.
Frontiers in Immunology, 2017
Successful umbilical cord blood hematopoietic stem cell transplantation in pediatric patients with MDS/AML associated with underlying GATA2 mutations: two case reports and review of literature.
Mallhi K et al.
Pediatric Transplantation, 2016
Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents.
Wlodarski MW et al.
Blood, 2016
GATA2 deficiency-associated bone marrow disorder differs from idiopathic aplastic anemia.
Ganapathi KA et al.
Blood, 2015
A woman with warts, leg swelling, and deafness.
Muszynski MA et al.
Journal of the American Academy of Dermatology, 2014
GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity.
Spinner MA et al.
Blood, 2014
Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation.
West RR et al.
Haematologica, 2014
GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome.
Hsu AP et al.
Blood, 2013
High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia.
Pasquet M et al.
Blood, 2013
Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia.
Holme H et al.
British Journal of Haematology, 2012
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).
Ostergaard P et al.
Nature Genetics, 2011