Familial emberger syndrome with autoimmunity, hyper-immunoglobulin E and lymphatic impairment caused by a novel GATA2 mutation

摘要: E mberger syndrome is an autosomal dominantly inherited multisystemic disorder characterized by primary lower limb lymphedema associated with predisposition to myelodysplasia and acute myeloid leukemia [1]. It was first described in 1979 by Emberger et al.[2] who reported a two generational family with four individuals affected with severe postlingual congenital deafness, lymphedema, and hematological malignancies. In 2011, Ostergaard et al.[1] identified heterozygous (haploinsufficiency) GATA2 germline mutations in patients with Emberger syndrome [3]. GATA2 deficiency is now recognized as a protean disorder of hematopoiesis, lymphatics, skin, and immunity [4]. GATA2, which encodes three transcripts, is one of six ‘WGATAR’DNA motif binding transcription factors that regulate gene expression and also interact with other transcription factors via two zinc finger domains where most described mutations …