Heterozygous familial or sporadic GATA 2 mutations cause a multifaceted disorder,
encompassing susceptibility to infection, pulmonary dysfunction, autoimmunity …

Familial cases of myelodysplastic syndromes are rare, but are immensely valuable for the
investigation of the molecular pathogenesis of myelodysplasia in general. The best …

The syndrome of monocytopenia, B-cell and NK-cell lymphopenia, and mycobacterial,
fungal, and viral infections is associated with myelodysplasia, cytogenetic abnormalities …

The human syndrome of dendritic cell, monocyte, B and natural killer lymphoid deficiency
presents as a sporadic or autosomal dominant trait causing susceptibility to mycobacterial …

Animal models and human in vitro systems indicate that dendritic cells (DCs) have a crucial
role in priming naive T cells, but just how important are they in the intact human? Recent …

We performed nonmyeloablative HSCT in 6 patients with a newly described genetic
immunodeficiency syndrome caused by mutations in GATA2—a disease characterized by …

Abstract GATA2 deficiency syndrome (G2DS) is a rare autosomal dominant genetic disease
predisposing to a range of symptoms, of which myeloid malignancy and immunodeficiency …

While most myelodysplastic syndrome/acute myeloid leukemia cases are sporadic, rare
familial cases occur and provide some insight into leukemogenesis. The most clearly …

Simple Summary Here we provide an overview of several genetically determined conditions
that predispose to the development of solid and hematologic malignancies in children …

Myelodysplastic syndromes (MDS) are a heterogenous group of hematologic malignancies
characterized by clonal expansion of BM myeloid cells with impaired differentiation. The …