title: Granulomatous lung disease in a patient with a family history of hematological disorders.
abstract: A 29-year old patient presented with granulomatous lung disease and a family history of myelodysplastic syndrome/acute myeloid leukemia. She appeared to be a carrier of a mutation in the transcription factor GATA2. The case adds to the recent described heterogeneous clinical manifestations and syndromes in which, against a background of hematologic disorders, GATA2 mutations have been demonstrated, such as the Monomac and Emberger syndromes. In patients with a granulomatous disease and a history of (familial) hematologic disorders, the occurence of GATA2 mutations should be considered, as to gain further insight in the occurrence of granulomatous disease in a possible distinct phenotype among GATA2 mutation carriers.
authors.affiliation: Medical Center Haaglanden The Hague. m.overbeek@mchaaglanden.nl.
authors.forename: M J
authors.initials: MJ
authors.lastname: Overbeek
authors.forename: A A
authors.initials: AA
authors.lastname: van de Loosdrecht
authors.forename: A
authors.initials: A
authors.lastname: Vonk-Noordegraaf
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D050989:GATA2 Transcription Factor / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D005938:Glucocorticoids / Q000627:therapeutic use; D015769:Granuloma, Respiratory Tract / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D040941:Heredity; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis / Q000235:genetics*; D017563:Lung Diseases, Interstitial / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D009154:Mutation; D009190:Myelodysplastic Syndromes / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome
chemical_list: D050989:GATA2 Transcription Factor; C494711:GATA2 protein, human; D005938:Glucocorticoids