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GenomicsGATA2 Deficiency and the MonoMAC Syndrome
GATA2 Deficiency and the MonoMAC Syndrome
PRJNA955848 | ENA
GenomicsGATA2 Deficiency and the MonoMAC Syndrome
GATA2 Deficiency and the MonoMAC Syndrome
PRJNA955837 | ENA
GenomicsmiR-181c is up-regulated in monoMAC cells related to increased cell death
Somatic and germline mutations in GATA2 were recently identified in patients diagnosed with monoMAC, the hallmarks of which include monocytopenia, B-cell and NK-cell lymphopenia, susceptibility to opportunistic infections (e.g. MAC), and a strong propensity to develop hypocellular MDS/AML or CMML. G...
ORGANISM(S): Homo sapiens 
2023-06-23 | GSE51132 | GEO
UnknownA novel GATA2 distal enhancer mutation results in MonoMAC syndrome in 2 second cousins.
Not available
S-EPMC10587712 | biostudies-literature
TranscriptomicsA novel GATA2 enhancer single nucleotide mutation results in the MonoMAC syndrome phenotype in two second cousins
Inherited or sporadic mutations in the transcription factor GATA2 have been shown to be responsible for MonoMAC syndrome, a GATA2 deficiency disease characterized by a constellation of findings including disseminated non-tuberculous mycobacterial infections, severe deficiencies of monocytes, natural...
ORGANISM(S): Homo sapiens 
2023-10-31 | GSE227436 | GEO
UnknownGATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome.
Not available
S-EPMC3650705 | biostudies-literature
GenomicsA novel GATA2 enhancer single nucleotide mutation results in the MonoMAC syndrome phenotype in two second cousins
A novel GATA2 enhancer single nucleotide mutation results in the MonoMAC syndrome phenotype in two second cousins
PRJNA945048 | ENA
UnknownGATA2 mutation in long stand Mycobacterium kansasii infection, myelodysplasia and MonoMAC syndrome: a case-report.
Not available
S-EPMC6489290 | biostudies-literature
GenomicsHomo sapiens
miR-181c is up-regulated in monoMAC cells related to increased cell death
PRJNA221244 | ENA
UnknownLoss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature.
Not available
S-EPMC3277359 | biostudies-literature
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