GATA2 Deficiency Syndrome: A Case Series and Literature Review.

GATA2 deficiency exacerbates chronic liver injury via disrupting hepatocyte death-regeneration balance: Clinical, histopathological, and molecular evidence.

Clinical relevance of mosaic variants detected by exome sequencing.

IL-1β as Target to Induce Synthetic Lethality in KRAS Mutant Biliary Tract Cancer.

GATA2 controls alveolar macrophage inflammatory gene expression and metabolic function.

A CRISPR-Based Humanized Model Reveals Cooperative Role of STAG2 Loss in Familial GATA2-Deficient MDS Progression.

GATA2 at 14: genotype-phenotype correlations.

Functional Properties of POU1F1 Mutants in the Transcriptional Regulation of the Thyrotropin β Gene Compared with the Prolactin Gene.

GATA2 deficiency presenting with Hodgkin's lymphoma and cryptogenic organizing pneumonia: a case report of two siblings.

Crucial roles of mesenchymal Gata2 in murine epididymal development.

Bone marrow transplantation of a GATA-2 patient with an active non-tuberculous mycobacterial infection.

[A case of pulmonary alveolar proteinosis secondary to GATA2 deficiency combined with splenic M. kansasii infection and literature review].

Multi-omics elucidation of KDM5C, KDM6A, and KMT2B roles in cancer epigenetic dysregulation and transcriptional reprogramming.

GATA2 deficiency in an adult with alveolar proteinosis, infections, lymphadenopathy with granulomatosis, and immune deficiency: case report.

Human iPSCs-based modeling unveils SETBP1 as a driver of chromatin rewiring in GATA2 deficiency.

Non-Malignant Granulocyte and Monocyte Disorders: An Update.

Pediatric MDS in GATA2 deficiency, narrowing the scope.

Pediatric Acute Megakaryoblastic Leukemia with a GATA2 Mutation and Monosomy 7: A Case Report and Clinical Management Challenges.

Disseminated mycobacterium kansasii infection revealing GATA2 haploinsufficiency after presumed tuberculosis and early lung cancer.

CRISPR-engineered human GATA2 deficiency model uncovers mitotic dysfunction and premature aging in HSPCs, impairing hematopoietic fitness.

A Case Report of Systemic Lupus Erythematosus in GATA2 Deficiency: Expanding the Spectrum of Rheumatological Features.

Case Report: GATA2 deficiency in two families with novel frameshift variants highlighting phenotypic diversity and need for early diagnosis.

Immune deficiency due to SARS-CoV-2 infection in a child with GATA2-mutated AML: A case report.

Impaired DNA damage responses and inflammatory signaling underpin hematopoietic stem cell defects in Gata2 haploinsufficiency.

GATA2 Deficiency in an Adolescent With Disseminated Herpes Simplex Virus Hemophagocytic Lymphohistiocytosis.

Treatment of GATA2 deficiency by allele-specific CRISPR-Cas9-directed gene correction in hematopoietic stem cells.

Further Personalizing Medicine in Immune Disorders: Genomic Findings and Hematopoietic Cell Transplantation Survival.

Age-dependent phenotypic and molecular evolution of pediatric MDS arising from GATA2 deficiency.

Sustained Remission of Refractory EBV-Associated CNS Post-Transplant Lymphoproliferative Disorder After Cord Blood Transplantation Using Donor-Derived CD19/CD20 Bispecific CAR-T Cells in a Pediatric Patient With GATA2 Deficiency.

Germline and somatic genetic landscape of pediatric myelodysplastic syndromes.

Growth hormone regulates deiodinase type 2 and 3 expression via GATA.

CT features of genetic mutation-related pulmonary alveolar proteinosis (CCR2 and GATA2 deficiency).

Diffuse molluscum contagiosum associated with GATA2 deficiency.

GATA2 Deficiency With Early-Onset and Progressive Interstitial Lung Disease.

Case Report: Hydroa vacciniforme-like lymphoproliferative disorder, an EBV-associated disease, successfully treated with hematopoietic stem cell transplantation.

DOCK2 Deficiency and GATA2 Haploinsufficiency Can Underlie Critical Coronavirus Disease 2019 (COVID-19) Pneumonia.

Hematological phenotypes in GATA2 deficiency syndrome arise from aging, maladaptation to proliferation, and somatic events.

Aggressive Head and Neck Squamous Cell Carcinoma in the Setting of GATA2 Deficiency.

Bone Marrow CD8 + Abundance Inversely Correlates with Progressive Marrow Fibrosis and Myelodysplastic Evolution in GATA2 Deficiency: Case Report.

Multiple phenotypes and epigenetic profiles in a three-generation family history with GATA2 deficiency.

GATA2 mutated allele specific expression is associated with a hyporesponsive state of HSC in GATA2 deficiency syndrome.

Modeling GATA2 deficiency in mice: the R396Q mutation disrupts normal hematopoiesis.

GATA2 participates in protection against hypoxia-induced pulmonary vascular remodeling.

Rare Case of Germline GATA2-Deficiency With Merkel Cell Carcinoma and Acute Myeloid Leukemia.

GSDMD Mediates Ang II-Induced Hypertensive Nephropathy by Regulating the GATA2/AQP4 Signaling Pathway.

Genome-first determination of the prevalence and penetrance of eight germline myeloid malignancy predisposition genes: a study of two population-based cohorts.

GATA2 deficiency and hemophagocytic lymphohistiocytosis (HLH): a systematic review of reported cases.

Genetic predisposition to myelodysplastic syndrome: Genetic counseling and transplant implications.

Inherited Predispositions to Myeloid Neoplasms: Pathogenesis and Clinical Implications.

BAFF-associated granulomatous lung disease in a patient with GATA2 deficiency.

High frequency of GATA2 variants in patients with pulmonary fungal disease without immunocompromised risk factors: a retrospective study.

Human papillomavirus disease in GATA2 deficiency: a genetic predisposition to HPV-associated female anogenital malignancy.

Renegotiation, uncertainty, imagination: Assemblage perspectives on reproductive and family planning with an Inborn Error of immunity.

Evaluation of recurrent and recalcitrant warts in a deaf adolescent male reveals GATA2 deficiency.

CEBPA and GATA2 mutation and a transient blood group discrepancy in a patient with acute myeloid leukaemia.

Long-term outcome after allogeneic stem cell transplantation for GATA2 deficiency: An analysis of 67 adults and children from France and Belgium.

Prognostic significance of GATA2 in patients with MDS/AML: a systematic review and meta-analysis.

Nudt15-mediated inflammatory signaling contributes to divergent outcomes in leukemogenesis and hematopoiesis.

The different faces of GATA2 deficiency: implications for therapy and surveillance.

GATA2 deficiency syndrome: A compensatory mechanism gone awry?

[Allogeneic hematopoietic stem cell transplantation in a patient with MonoMAC syndrome and hematopoietic dysplasia which was induced by GATA2 deficiency: a case report and literature review].

GATA2 heterozygosity causes an epigenetic feedback mechanism resulting in myeloid and erythroid dysplasia.

Haemophagocytic lymphohistiocytosis caused by GATA2 deficiency: a report on three patients.

Discerning clinicopathological features of congenital neutropenia syndromes: an approach to diagnostically challenging differential diagnoses.

Somatic mutations in four novel genes contribute to homologous recombination deficiency in breast cancer: a real-world clinical tumor sequencing study.

Malignant progression of preleukemic disorders.

Pathogenic GATA2 genetic variants utilize an obligate enhancer mechanism to distort a multilineage differentiation program.

Susceptibility to mycobacterial infection in VEXAS syndrome.

GATA2 deficiency of a novel missense variant with multiorgan inflammation.

Perturbed collagen metabolism underlies lymphatic recanalization failure in Gata2 heterozygous deficient mice.

Genetic Characteristics of Patients with Young-Onset Myelodysplastic Neoplasms.

Mechanisms of resistance to hypomethylating agents and BCL-2 inhibitors.

Development of MDS in Pediatric Patients with GATA2 Deficiency: Increased Histone Trimethylation and Deregulated Apoptosis as Potential Drivers of Transformation.

The role of GATA2 in adult hematopoiesis and cell fate determination.

Profound and selective lymphopaenia in primary lymphatic anomaly patients demonstrates the significance of lymphatic-lymphocyte interactions.

Cytogenetics in the management of bone marrow failure syndromes: Guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH).

Visceral Leishmaniasis Revealing Undiagnosed Inborn Errors of Immunity.

Gata2 noncoding genetic variation as a determinant of hematopoietic stem/progenitor cell mobilization efficiency.

A Nationwide Study of GATA2 Deficiency in Italy Reveals Novel Symptoms and Genotype-phenotype Association.

GATA2 deficiency in a patient with a somatic mutation of GATA2.

Extensive dental caries and periodontal disease in a child with GATA2 deficiency.

Disseminated Nontuberculous Mycobacterial Infection in a Tertiary Referral Hospital in South Korea: A Retrospective Observational Study.

Case Report: Missing zinc finger domains: hemophagocytic lymphohistiocytosis in a GATA2 deficiency patient triggered by non-tuberculous mycobacteriosis.

Recalcitrant multiple warts in GATA2 deficiency treated with systemic etretinate.

The Molecular and Genetic Mechanisms of Inherited Bone Marrow Failure Syndromes: The Role of Inflammatory Cytokines in Their Pathogenesis.

A novel GATA2 distal enhancer mutation results in MonoMAC syndrome in 2 second cousins.

Invasive mucorales sinusitis in a young patient with Emberger syndrome and newly diagnosed AML: A case report and literature review of invasive fungal infections in GATA2 deficiency.

Inherited bone marrow failure syndromes and germline predisposition to myeloid neoplasia: A practical approach for the pathologist.

Prevalence and significance of DDX41 gene variants in the general population.

Atypical Cutaneous Viral Infections Reveal an Inborn Error of Immunity in 8 Patients.

Lineage skewing and genome instability underlie marrow failure in a zebrafish model of GATA2 deficiency.

Interferon regulatory factor-8-dependent innate immune alarm senses GATA2 deficiency to alter hematopoietic differentiation and function.

GATA2 Deficiency: Predisposition to Myeloid Malignancy and Hematopoietic Cell Transplantation.

Prevalence and clinical expression of germ line predisposition to myeloid neoplasms in adults with marrow hypocellularity.

Successful allogeneic hematopoietic stem cell transplantation for myelodysplastic neoplasms complicated with secondary pulmonary alveolar proteinosis and Behçet's disease harboring GATA2 mutation.

Infection and myelodysplasia: A case report of GATA2 deficiency in a South African patient.

TP53 Mutations Are Associated with Increased Infections and Reduced Hematopoietic Cell Transplantation Rates in Myelodysplastic Syndrome and Acute Myeloid Leukemia.

The Clinical Spectrum, Diagnosis, and Management of GATA2 Deficiency.

Epigenome profiling reveals aberrant DNA methylation signature in GATA2 deficiency.

Pathogenic human variant that dislocates GATA2 zinc fingers disrupts hematopoietic gene expression and signaling networks.

Applicability of T cell receptor repertoire sequencing analysis to unbalanced clinical samples - comparing the T cell receptor repertoire of GATA2 deficient patients and healthy controls.

Introduction to a review series on germ line predisposition to hematologic malignancies: time to consider germ line testing.

[Nontuberculous mycobacteria infection and pulmonary alveolar proteinosis in a patient with hematopoietic defects].

Somatic genetic alterations predict hematological progression in GATA2 deficiency.

GATA2 deficiency detected by newborn screening for SCID: A case report.

Gata2-regulated Gfi1b expression controls endothelial programming during endothelial-to-hematopoietic transition.

Cellular and metabolic characteristics of pre-leukemic hematopoietic progenitors with GATA2 haploinsufficiency.

The spectrum of GATA2 deficiency syndrome.

Clinical, Imaging, and Laboratory Findings in Patients With GATA2 Deficiency Presenting With Early-Onset Ischemic Stroke.

GATA2 haploinsufficient patients lack innate lymphoid cells that arise after hematopoietic cell transplantation.

MonoMAC syndrome with GATA2 novel mutation: A case report.

Decreasing GDF15 Promotes Inflammatory Signals and Neutrophil Infiltration in Psoriasis Models.

Impaired Interleukin-15 Signaling via BMPR2 Loss Drives Natural Killer Cell Deficiency and Pulmonary Hypertension.

[GATA2 gene mutations: 3 cases].

Case report: Successful allogeneic stem cell transplantation in a child with novel GATA2 defect associated B-cell acute lymphoblastic leukemia.

Inflammatory diseases in hematology: a review.

Facial lymphoedema, viral warts, and myelodysplastic syndrome: the protean condition of GATA2 deficiency.

GATA 2 Deficiency: Focus on Immune System Impairment.

GATA2 deficiency and MDS/AML: Experimental strategies for disease modelling and future therapeutic prospects.

Utility of targeted next generation sequencing for inborn errors of immunity at a tertiary care centre in North India.

GATA2 deficiency associated with copy number variation: A reference for considering inborn errors of immunity.

Pulmonary Alveolar Proteinosis due to Familial Myelodysplastic Syndrome with resolution after stem cell transplant.

GATA2 Deficiency in Adult Life Is Characterized by Phenotypic Diversity and Delayed Diagnosis.

Heterozygous variants in GATA2 contribute to DCML deficiency in mice by disrupting tandem protein binding.

Single Center Experience With Pediatric Patients With GATA2 Deficiency.

Morbidity, Mortality, and Therapeutics in Combined Immunodeficiency: Data From the USIDNET Registry.

Renal Klotho and inorganic phosphate are extrinsic factors that antagonistically regulate hematopoietic stem cell maintenance.

GATA2 deficiency elevates interferon regulatory factor-8 to subvert a progenitor cell differentiation program.

Redefining WILD syndrome: a primary lymphatic dysplasia with congenital multisegmental lymphoedema, cutaneous lymphovascular malformation, CD4 lymphopaenia and warts.

A Nationwide Study of GATA2 Deficiency in Norway-the Majority of Patients Have Undergone Allo-HSCT.

Majocchi's granuloma in a patient with GATA2 haploinsufficiency undergoing hematopoietic stem cell transplantation.

Survey of germline variants in cancer-associated genes in young adults with colorectal cancer.

Combined Mutation of the GATA2 Gene and STAT5B Gene in a Patient with Hypogammaglobulinemia and Autoimmunity.

Deficiencies in the DNA Binding Protein ARID3a Alter Chromatin Structures Important for Early Human Erythropoiesis.

GATA2 deficiency phenotype associated with tandem duplication of GATA2 and overexpression of GATA2-AS1.

A 30-Year-Old Immune Deficient Woman With Persistent Cough and Shortness of Breath.

Differential Requirement of Gata2a and Gata2b for Primitive and Definitive Myeloid Development in Zebrafish.

Finding the best haematopoietic stem cell transplant regimen for GATA2 haploinsufficiency: how close are we?

Donor source and post-transplantation cyclophosphamide influence outcome in allogeneic stem cell transplantation for GATA2 deficiency.

ASXL1 and STAG2 are common mutations in GATA2 deficiency patients with bone marrow disease and myelodysplastic syndrome.

CISH attenuates homeostatic cytokine signaling to promote lung-specific macrophage programming and function.

Gata2 +9.5 enhancer regulates adult hematopoietic stem cell self-renewal and T-cell development.

Gata2 haploinsufficiency promotes proliferation and functional decline of hematopoietic stem cells with myeloid bias during aging.

Association of unbalanced translocation der(1;7) with germline GATA2 mutations.

Generalized verrucosis in GATA2 deficiency successfully treated with systemic acitretin and trichloroacetic acid.

GATA2 and marrow failure.

GATA2 deficiency syndrome: A decade of discovery.

Chronic Kidney Disease Induced by Cisplatin, Folic Acid and Renal Ischemia Reperfusion Induces Anemia and Promotes GATA-2 Activation in Mice.

Mycobacterial diseases in patients with inborn errors of immunity.

Generation of two heterozygous GATA2 CRISPR/Cas9-edited iPSC lines, R398W and R396Q, for modeling GATA2 deficiency.

"Oral Manifestations of Patients with Inherited Defect in Phagocyte Number or Function" a systematic review.

miR-181c regulates MCL1 and cell survival in GATA2 deficient cells.

Hematopoietic stem cell transplantation in children and adolescents with GATA2-related myelodysplastic syndrome.

Germline GATA2 variant disrupting endothelial eNOS function and angiogenesis can be restored by c-Jun/AP-1 upregulation.

Fertility preservation before hematopoetic stem cell transplantation: a case series of women with GATA binding protein 2 deficiency, dedicator of cytokinesis 8 deficiency, and sickle cell disease.

Single-cell ATAC-seq reveals GATA2-dependent priming defect in myeloid and a maturation bottleneck in lymphoid lineages.

Recalcitrant warts and lymphopenia in a young male.

Pulmonary Manifestations of GATA2 Deficiency.

Disseminated nontuberculous mycobacteriosis and fungemia after second delivery in a patient with MonoMAC syndrome/GATA2 mutation: a case report.

Hematopoietic Cell Transplantation and Outcomes Related to Human Papillomavirus Disease in GATA2 Deficiency.

High penetrance of myeloid neoplasia with diverse clinical and cytogenetic features in three siblings with a familial GATA2 deficiency.

A novel germline GATA2 frameshift mutation with a premature stop codon in a family with congenital sensory hearing loss and myelodysplastic syndrome.

When to suspect GATA2 deficiency in pediatric patients: from complete blood count to diagnosis.

Alveolar Proteinosis, Infectious Complications and Monocytopenia Associated with GATA2 Deficiency.

Diagnosis of GATA2 Deficiency in a Young Woman with Hemophagocytic Lymphohistiocytosis Triggered by Acute Systemic Cytomegalovirus Infection.

Somatic GATA2 mutations define a subgroup of myeloid malignancy patients at high risk for invasive fungal disease.

Deficiency of Rbpj Leads to Defective Stress-Induced Hematopoietic Stem Cell Functions and Hif Mediated Activation of Non-canonical Notch Signaling Pathways.

Effect of the unfolded protein response and oxidative stress on mutagenesis in CSF3R: a model for evolution of severe congenital neutropenia to myelodysplastic syndrome/acute myeloid leukemia.

Poly(ADP-ribose) polymerase inhibitor-associated myelodysplastic syndrome/acute myeloid leukemia: a pharmacovigilance analysis of the FAERS database.

Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance.

GATA2 mutation with recurrent haemophagocytic lymphohistiocytosis and panniculitis: a case report.

Severe influenza in a paediatric patient with GATA2 deficiency and Emberger syndrome.

Venetoclax/decitabine for a pediatric patient with chronic myelomonocytic leukemia.

Many signs, one mutation: Early onset of de novo GATA2 deficiency syndrome. A case report.

Secondary pulmonary alveolar proteinosis in GATA-2 deficiency (MonoMAC syndrome).

Genotypes versus phenotypes: The potential paradigm shift in the diagnosis and management of pediatric neoplasms.

GATA2 Related Conditions and Predisposition to Pediatric Myelodysplastic Syndromes.

Germline predisposition in myeloid neoplasms: Unique genetic and clinical features of GATA2 deficiency and SAMD9/SAMD9L syndromes.

Possible mechanisms by which silkworm faeces extract ameliorates adenine-induced renal anaemia in rats.

Human GATA2 mutations and hematologic disease: how many paths to pathogenesis?

Recalcitrant Herpes Zoster Ophthalmicus in a Patient Discovered to Have Underlying Functional Natural Killer Cell Deficiency.

Human NK cells prime inflammatory DC precursors to induce Tc17 differentiation.

Natural gene therapy in hematopoietic disorders: GATA too.

Allogeneic hematopoietic cell transplantation in the management of GATA2 deficiency and pulmonary alveolar proteinosis.

GATA2 deficiency in a young man with lymphoedema.

Hereditary Predisposition to Hematopoietic Neoplasms: When Bloodline Matters for Blood Cancers.

GATA2 functions in adrenal chromaffin cells.

Humoral deficiency in a novel GATA2 mutation: A new clinical presentation successfully treated with hematopoietic stem cell transplantation.

Sequencing of RNA in single cells reveals a distinct transcriptome signature of hematopoiesis in GATA2 deficiency.

Somatic genetic rescue in hematopoietic cells in GATA2 deficiency.

Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency.

Familial Emberger Syndrome With Autoimmunity, Hyper-Immunoglobulin E and Lymphatic Impairment Caused by a Novel GATA2 Mutation.

A Panoply of Rheumatological Manifestations in Patients with GATA2 Deficiency.

Breaking the spatial constraint between neighboring zinc fingers: a new germline mutation in GATA2 deficiency syndrome.

GATA2 +9.5 enhancer: from principles of hematopoiesis to genetic diagnosis in precision medicine.

Landscape of Tumor Suppressor Mutations in Acute Myeloid Leukemia.

Natural killer cells get under your skin.

Blood natural killer cell deficiency reveals an immunotherapy strategy for atopic dermatitis.