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

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Maria Overbeek
Arjen Van de Loosdrecht
Anton Vonk-Noordegraaf


granulomatous disease, interstitial lung disease, GATA2 transcription factor, immunodeficiency, hematologic disease


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.


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