Granulomatous lung disease in a patient with a family history of hematological disorders

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 syndr...

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Veröffentlicht in:Sarcoidosis, vasculitis, and diffuse lung diseases vasculitis, and diffuse lung diseases, 2015-01, Vol.31 (4), p.350-353
Hauptverfasser: Overbeek, M J, van de Loosdrecht, A A, Vonk-Noordegraaf, A
Format: Artikel
Sprache:eng
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Zusammenfassung: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.
ISSN:1124-0490
2532-179X