Mutations in the transcription factor GATA2 can cause MonoMAC syndrome, a GATA2
deficiency disease characterized by several findings, including disseminated …

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 …

A 3-year-old girl of nonconsanguineous healthy parents presented with cervical and
mediastinal lymphadenopathy due to Mycobacterium fortuitum infection. Routine blood …

Background GATA2 is a transcription factor that is a critical regulator of gene expression in
hematopoietic cells. GATA2 deficiency presents with multi-lineage cytopenia, mycobacterial …

Mutations in genes encoding transcription factors inactivate or generate ectopic activities to
instigate pathogenesis. By disrupting hematopoietic stem/progenitor cells, GATA2 germline …

Inherited or de novo germ line heterozygous mutations in the gene encoding the
transcription factor GATA2 lead to its deficiency. This results in a constellation of clinical …

Congenital neutropenia is a group of genetic disorders that involve chronic neutropenia and
susceptibility to infections. These neutropenias may be isolated or associated with …

GATA2 deficiency syndrome is an autosomal dominant disorder caused by germline
mutations in the GATA2 gene, which encodes a transcription factor with two zinc fingers that …

Constitutional GATA2 deficiency caused by heterozygous germline GATA2 mutations has a
broad spectrum of clinical phenotypes, including systemic infections, lymphedema …

We performed whole-genome and exome sequencing of a family with high-risk
myelodysplastic syndrome (MDS). Based on the sequencing results, the affected family …