title: Multiple Opportunistic Infections in a Woman with GATA2 Mutation.
abstract: GATA2 deficiency is a genetic disorder caused by inherited or sporadic haploinsufficient mutations in the GATA2 gene. Patients have abnormalities in hematopoiesis, lymphangiogenesis and immunity; encompassing a broad range of clinical syndromes, mainly characterized by monocytopenia, B and NK cell cytopenia, severe or recurrent infections, and a high risk of developing myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). We report a case of an Argentinean woman who presented with multiple opportunistic infections as her first manifestation of GATA2 deficiency.
authors.affiliation: Department of Infectious Diseases, Hospital Italiano de Mendoza, Avenida Acceso Este 1070, San José, Mendoza, Argentina. Electronic address: santander@arlink.net.ar.
authors.forename: Andrea
authors.initials: A
authors.lastname: Vila
authors.affiliation: Department of Infectious Diseases, Hospital Italiano de Mendoza, Avenida Acceso Este 1070, San José, Mendoza, Argentina.
authors.forename: Juan I
authors.initials: JI
authors.lastname: Dapás
authors.affiliation: Department of Infectious Diseases, Hospital Italiano de Mendoza, Avenida Acceso Este 1070, San José, Mendoza, Argentina.
authors.forename: Cynthia V
authors.initials: CV
authors.lastname: Rivero
authors.affiliation: Department of Internal Medicine, Hospital Italiano de Mendoza, Avenida Acceso Este 1070, San José, Mendoza, Argentina.
authors.forename: Florencia
authors.initials: F
authors.lastname: Bocanegra
authors.affiliation: Department of Internal Medicine, Hospital Italiano de Mendoza, Avenida Acceso Este 1070, San José, Mendoza, Argentina.
authors.forename: Roberto F
authors.initials: RF
authors.lastname: Furnari
authors.affiliation: Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, USA.
authors.forename: Amy P
authors.initials: AP
authors.lastname: Hsu
authors.affiliation: Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, USA.
authors.forename: Steven M
authors.initials: SM
authors.lastname: Holland
mesh_terms: D005260:Female; D050989:GATA2 Transcription Factor / Q000235:genetics* / Q000276:immunology; D006801:Humans; D007694:Killer Cells, Natural / Q000276:immunology; D009154:Mutation; D009894:Opportunistic Infections / Q000150:complications / Q000235:genetics* / Q000276:immunology; D014777:Virus Diseases / Q000209:etiology / Q000821:virology; D055815:Young Adult
chemical_list: D050989:GATA2 Transcription Factor
keywords: GATA2 deficiency; GATA2 mutation; MonoMAC syndrome; monocytopenia