Abstract

GATA-2 is a transcription factor expressed in haematopoietic stem cell cells involved in differentiation and in lymphatic development. Mutations in this molecule explain four different previously known syndromes: monocytopenia and mycobacterial infection syndrome (MonoMAC); dendritic cell, monocyte, B cell and NK cell lymphoid deficiency syndrome; familiar myelodysplastic syndrome/acute myeloid leukaemia syndrome and Emberger syndrome (primary lymphedema with myelodysplastic syndrome) [ 1 Dickinson R.E. Griffin H. Bigley V. et al. Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. Blood. 2011; 118: 2656-2658 Crossref PubMed Scopus (330) Google Scholar , 2 Spinner M.A. Sanchez L.A. Hsu A.P. et al. GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. Blood. 2014; 123: 809-821 Crossref PubMed Scopus (458) Google Scholar ].

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