GATA-2 anomaly and clinical phenotype of a sporadic case of lymphedema, dendritic cell, monocyte, B- and NK-cell (DCML) deficiency, and myelodysplasia
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Summary
Functional analysis of the patient’s GATA-2 mutation is required to understand the relationship between these distinctive syndromes.
- Type
- article
- Published
- 2012-03-21
- Cited by
- 56
- References
- 13
- OpenAlex
- https://openalex.org/W1970735597
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:22705268
Keywords
Missense mutation, Medicine, Mutation, Phenotype, Immunology
References
- Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.
- Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia.
- Heritable GATA2 Mutations Associated with Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia
- Successful allogeneic hematopoietic stem cell transplantation for GATA2 deficiency.
- Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency
- Prognostic significance of WT1 mRNA and anti-WT1 antibody levels in peripheral blood in patients with myelodysplastic syndromes.
- Emberger syndrome—Primary lymphedema with myelodysplasia: Report of seven new cases
- Immunity to Microbes: Lessons from Primary Immunodeficiencies
- Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)
- The Wilms’ tumor gene WT1 is a good marker for diagnosis of disease progression of myelodysplastic syndromes
- Myelodysplasia in autosomal dominant and sporadic monocytopenia immunodeficiency syndrome: diagnostic features and clinical implications
- The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency
- GATA-2 regulates granulocyte-macrophage progenitor cell function.
Cited by
- Myelodysplastic syndromes and acute leukemia with genetic predispositions: a new challenge for hematologists
- Host susceptibility to non-tuberculous mycobacterial infections.
- GATA2 Germline Mutations Impair GATA2 Transcription, Causing Haploinsufficiency: Functional Analysis of the p.Arg396Gln Mutation
- Paxillin-dependent control of tumor angiogenesis
- Contribution of the GATA2 transcription factor to the development and progression of myeloid disorders
- ANEMIA OF CENTRAL ORIGIN
- Haematopoietic and immune defects associated with GATA2 mutation
- Regulation of GATA-binding Protein 2 Levels via Ubiquitin-dependent Degradation by Fbw7
- The evolution of cellular deficiency in GATA2 mutation.
- Inherited predisposition to acute myeloid leukemia.
- Presence of hypogammaglobulinemia and abnormal antibody responses in 1 GATA2 deficiency
- Primary immunodeficiencies appearing as combined lymphopenia, neutropenia, and monocytopenia.
- Conditional Gata2 inactivation results in HSC loss and lymphatic mispatterning.
- Primary immunodeficiencies underlying fungal infections
- GATA2 and Lmo2 control angiogenesis and lymphangiogenesis via direct transcriptional regulation of neuropilin-2
- High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia.
- Rheumatologic manifestations of the “MonoMAC” syndrome. a systematic review
- Mutations in the VEGFR3 Signaling Pathway Explain 36% of Familial Lymphedema
- Spectrum of myeloid neoplasms and immune deficiency associated with germline GATA2 mutations
- A woman with warts, leg swelling, and deafness
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