Haploinsufficiency of the hematopoietic transcription factor GATA2 underlies monocytopenia
and mycobacterial infections; dendritic cell, monocyte, B, and natural killer (NK) lymphoid …

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

Background. Chronic granulomatous disease (CGD) is due to defective nicotinamide adenine
dinucleotide phosphate oxidase activity and characterized by recurrent infections with a …

Previous reports of GATA2 mutations have focused on the coding region of the gene or full
gene deletions. We recently identified 2 patients with novel insertion/deletion mutations …

Mutations in the transcription factor GATA2 underlie the syndrome of monocytopenia and B-
and natural killer (NK)-cell lymphopenia associated with opportunistic infections and cancers…

BACKGROUND: Impaired signaling in the IFN-γ/IL-12 pathway causes susceptibility to
severe disseminated infections with mycobacteria and dimorphic yeasts. Dominant gain-of-…

Germ-line GATA2 gene mutations, leading to haploinsufficiency, have been identified in
patients with familial myelodysplastic syndrome/acute myeloid leukemia, monocytopenia and …

Background Chronic granulomatous disease (CGD) is characterized by recurrent life-threatening
bacterial and fungal infections and aberrant inflammation. Mutations in CYBB cause X-…

<p id="p001">A patient with leukocyte adhesion deficiency type 1 (LAD1) had severe
periodontitis and an intractable, deep, nonhealing sacral wound. We had previously found a …

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