Condition: Emberger Syndrome
rs1426175410 in
GATA2 gene and
Emberger Syndrome
PMID 25879889 2015 Diffuse parenchymal lung disease as first clinical manifestation of GATA-2 deficiency in childhood.
PMID 26812071 2016 Single-gene association between GATA-2 and autoimmune hepatitis: A novel genetic insight highlighting immunologic pathways to disease.
PMID 24266605 2013 Abstracts of the UK PIN (Primary Immunodeficiency Network) Meeting. December 6-7, 2013. Liverpool, United Kingdom.
PMID 21892158 2011 Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).
PMID 23502222 2013 GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome.
PMID 27418648 2016 Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.
PMID 24077845 2014 Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation.
PMID 26492932 2015 Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia.
PMID 23365458 2013 Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset.
PMID 26702063 2016 Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents.
PMID 25676417 2015 Characterisation of a compound in-cis GATA2 germline mutation in a pedigree presenting with myelodysplastic syndrome/acute myeloid leukemia with concurrent thrombocytopenia.
PMID 21892162 2011 Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia.
PMID 21670465 2011 Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.
PMID 27894982 2017 Multiple Opportunistic Infections in a Woman with GATA2 Mutation.