Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Germline GATA2 Mutation and Bone Marrow Failure.

Hematology/oncology clinics of North America - 1 Aug 2018

McReynolds Lisa J, Calvo Katherine R, Holland Steven M

Abstract excerpt

GATA2 deficiency is an immunodeficiency and bone marrow failure disorder caused by pathogenic variants in GATA2. It is inherited in an autosomal-dominant pattern or can be due to de novo sporadic germline mutation. Patients commonly have B-cell, dendritic cell, natural killer cell, and monocytopenias, and are predisposed to myelodysplastic syndrome, acute myeloid leukemia, and chronic myelomonocytic leukemia....

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Anemia, Aplastic
Share to Bone Marrow Diseases
Share to Bone Marrow Failure Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to GATA2 Transcription Factor

Share to Hemoglobinuria, Paroxysmal

Share to Leukemia, Myelogenous, Chronic, BCR-ABL Positive

Share to Leukemia, Myeloid, Acute

Share to Myelodysplastic Syndromes

Source

Open in PubMed Open full text

Identifiers

PMID: 30047422
DOI: 10.1016/j.hoc.2018.04.004
PMCID: PMC6128284

Genes

GATA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Germline GATA2 Mutation and Bone Marrow Failure.PMID 30047422Read ↗

GATA2 deficiency.Semantic proximity Read ↗

Haematopoietic and immune defects associated with GATA2 mutation.Semantic proximity Read ↗

The spectrum of GATA2 deficiency syndrome.Semantic proximity Read ↗

GATA2 deficiency and related myeloid neoplasms.Semantic proximity Read ↗

GATA2 Deficiency: Predisposition to Myeloid Malignancy and Hematopoietic Cell Transplantation.Semantic proximity Read ↗

GATA2 deficiency syndrome: A decade of discoverySemantic proximity Read ↗

The Clinical Spectrum, Diagnosis, and Management of GATA2 DeficiencySemantic proximity Read ↗

GATA factor mutations in hematologic disease.Semantic proximity Read ↗

[GATA2 gene mutations: 3 cases].Semantic proximity Read ↗

GATA 2 Deficiency: Focus on Immune System ImpairmentSemantic proximity Read ↗

Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.Semantic proximity Read ↗

GATA2 Deficiency in Adult Life Is Characterized by Phenotypic Diversity and Delayed Diagnosis.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.